Abstracts from the Nineteenth Annual Education Conference of the National Society of Genetic Counselors (Savannah, Georgia, November 2000).

P1: FMN Journal of Genetic Counseling [jgc]

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Style file version Nov. 19th, 1999

Journal of Genetic Counseling, Vol. 9, No. 6, 2000

Abstracts from the Nineteenth Annual Education Conference of the National Society of Genetic Counselors (Savannah, Georgia, November 2000)1 Stephanie A. Cohen2,4 and Lyn Hammond3

Abstracts have been arranged by the Abstract Committee into the following categories: I. II. III. IV. V. VI. VII. VIII.

Award Papers Prenatal Molecular Cancer Adult Pediatrics Professional Issues Others I. AWARD PAPERS The Beth Fine Kaplan Student Abstract Award

Differences in Maternal and Paternal Perceptions of Raising a Child with Down Syndrome E. R. Levin, E. H. Zackai, and D. M. McDonald-McGinn Children’s Hospital of Philadelphia, Pennsylvania Elucidating and understanding how parents can perceive a common environment differently is a crucial component of genetic counseling. A questionnaire 1 The

authors wish to acknowledge Victoria Vincent, Julie Culver, and Martha Dudek for their help in preparing the abstracts for publication. 2 St. Vincent Hospital Family Life Center, Indianapolis, Indiana. 3 Medical University of South Carolina, Charleston, South Carolina. 4 Correspondence should be directed to Stephanie Cohen, Maternal Fetal Medicine and Genetics, 2001 W. 86th St, Indianapolis, Indiana, 46240-0970. 457 C 2000 National Society of Genetic Counselors, Inc. 1059-7700/00/1200-0457$18.00/1 °


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was sent to all parents of children diagnosed with Down Syndrome (DS) at the Children’s Hospital of Philadelphia born prior to 1990. A total of 262 completed surveys were included in the data analysis, yielding 89 parental couples. Cross tabulations were performed between all maternal and paternal responses as well as for parental responses within the same family. Mothers reported that the birth of the child altered their educational and occupational plans, whereas fathers reported that the birth did not impact their life plans. Mothers sought support from their own parents and declared that their partner and relatives provided their greatest sources of help. Alternatively, fathers reported that friends and relatives represented their greatest source of support. Within parental units close to 100% concordance was determined in terms of relative positive or negative feelings within the first year after the child’s birth. Mothers were more likely to report feelings of guilt and sadness than fathers at the time of the diagnosis; however, at the time of the questionnaire’s distribution, no such differences were determined. No differences were found with regard to parental perceptions of whose life changed the most, who adapted to the DS child more quickly, and who had the most difficulty adjusting to the presence of the child, indicating either successful perceptions of the other partner’s experience or adequate communication within parental units. Overall, 60% of parents reported that the birth of a child with DS influenced their future family planning; however, no significant gender differences were determined. Mothers were more likely than their male partners to have experienced premonitions that the child would have a birth defect, an issue not previously addressed in the literature. Both identifying differences in parental reactions and implementing relevant counseling techniques may help normalize gender differences among parents raising a child with DS. Best Submission by a Full Member of the National Society of Genetic Counselors Recommendations for Genetic Counseling and Screening of Consanguineous Couples and Their Offspring∗ R. L. Bennett, A. G. Motulsky, A. Bittles, L. Hudgins, S. Uhrich, D. LochnerDoyle, K. Silvey, C. R. Scott, E. Cheng, B. McGillivray, R. Steiner, and D. Olson University of Washington, Seattle, Washington There are few reports on advising and screening consanguineous couples, their pregnancies, and their offspring. A 1996 survey of U.S. medical geneticists and genetic counselors suggested that genetic screening practices and risk figures quoted for consanguineous couples and their offspring varied considerably. A Consanguinity Working Group (CWG) consisting of experts in genetic counseling, medical genetics, biochemical genetics, public health genetics, genetic epidemiology, pediatrics, and perinatology met to develop recommendations for genetic counseling and screening for this patient population, given health services ∗ This

work was supported by the NSGC Special Projects Fund.


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available in the US and Canada. The goals were (1) to provide reproductive options for family planning; (2) to improve pregnancy outcomes and identify prenatal screening options; (3) to reduce morbidity and mortality in the first years of life. Studies evaluating the risks for birth defects and mental retardation in this population were assessed using MEDLINE and PubMed. Our proposal was presented at regional meetings, and the CWG draft report is in the process of outside expert review. The recommendations are based on clinical experience, descriptive studies, and reports of expert committees. The CWG concludes that for consanguineous unions, no additional preconception screening outside of a thorough genetic family history is warranted. In pregnancy, no additional screening is needed beyond standard maternal-fetal marker screening and comprehensive fetal ultrasound at 18–20 weeks gestation. Newborns whose parents are related as second cousins or closer should be screened with tandem-mass-spectrometry, and those of incestuous unions should have hearing tested by the age of 6 months. Specific genetic counseling issues (e.g., ethnicity carrier testing, stigma, cultural issues, family resources) are discussed. A review of these recommendations is planned in 2–3 years to account for advances in newborn and first trimester pregnancy screening. II. PRENATAL Development of a Patient Activation Intervention and Assessment of the Feasibility of its Use in a Study of Prenatal Genetic Counseling Clients M. Barber, B. Bernhardt, and B. Biesecker Johns Hopkins University, Baltimore, Maryland The aims of this study were to use a health education model to develop and revise a patient activation intervention tool aimed at increasing client participation in prenatal genetic counseling and to assess the feasibility of conducting future research to evaluate it. Qualitative data concerning the design and use of the intervention and the feasibility of assessing its effectiveness were collected from genetic counseling clinic staff (n = 14) and genetic counseling clients (n = 16). We found that while the genetic counselors saw some potential utility for the tool in helping clients prepare for genetic counseling, they had some concerns about its potentially negative effect on client anxiety, on the counselor’s ability to perform her job, and on the relationship between counselor and client. The clients in this study reported seeing value in the intervention in terms of helping clients know what to expect from and be better prepared for genetic counseling. The clients also had concerns about exposure to the intervention, potentially raising client anxiety. The findings from these interviews led to a revised version of the patient activation intervention tool that is a two-sided document that includes an introductory paragraph about the purpose and scope of prenatal genetic counseling, an interactive chart containing both educational and psychosocial topics for clients to consider prior to their appointments, and a statement emphasizing the importance of their participation in the genetic counseling session. Barriers to future research were identified, such as the time commitment required for both clinicians and subjects,


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difficulties related to the logistics of subject recruitment, and potential client unwillingness to participate due to anxiety, being a “guinea pig,” and confusion about the distinction between clinical care and research. These results suggest that research evaluating the use of the intervention is warranted and would be feasible, given a study design that takes into account means to overcome some of these potential barriers. Second Trimester Ultrasound Findings in Fetuses with Trisomy 18 K. Barr, C. Hartlove, N. Chow, and E. Obelensky Kaiser Permanente, San Francisco, California Trisomy 18 has been associated with a variety of prenatal sonographic findings. Third trimester fetal findings have been reported in over 70% of affected fetuses, but there is limited data available on second trimester ultrasound findings. In order to better understand the frequency and variety of second trimester ultrasound findings in trisomy 18, we retrospectively reviewed the ultrasound findings in 150 cases of trisomy 18 diagnosed at Kaiser Northern California Regional Genetics Laboratory between August 1991 and March 2000. Only cases with ultrasounds performed between 15 and 24 weeks gestation were included. Medical and/or electronic records were reviewed in all cases. Ultrasound findings were divided into major and minor/soft findings. Major findings were defined as a finding that would prompt the offer of amniocentesis without any other risk factors. Similar to third trimester findings, a large percentage of fetuses with trisomy 18 have significant ultrasound findings during the second trimester; however, in this review, ultrasound abnormalities were not uniformly seen in fetuses with trisomy 18. A complete review of cases’ findings will be presented. These results will assist in counseling women who are referred during the second trimester with an increased risk for trisomy 18. Case Report: Resolution of an Ethical Dilemma R. Baughman University of North Carolina, Chapel Hill, North Carolina SC, a 21-year old G1 presented for genetic counseling and CVS due to a paternal family history of myotonic dystrophy (DM). BB, the FOB, has a 50% risk of having DM. BB explicitedly stated he did not want presymptomatic testing. BB’s sister, AB, is affected; the mutation in the family is known. AB released medical records to SC for prenatal diagnosis. However, an affected fetus will reveal BB’s status. The Institutional Ethics Committee reviewed the case. Their discussion focused on SC’s “need to know” vs BB’s “need not to know.” The committee concluded that if SC would terminate an affected pregnancy her need to know superceded BB’s need not to know. If SC would not terminate, BB’s need not to know superceded SC’s need to know. The committee recommended to meet with SC again, and review the “need to know” issues. SC & BB were young and both relied on the advice of their mothers. The second counseling session included SC, BB and their mothers. BB expressed concerns about documentation of his disease


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status. His affected sister recently had been denied life insurance. He was worried about future insurability and employability if medical records indicated he was affected with DM. Ultimately, BB did not object to the knowledge of his disease status, provided there was no documentation. The couple decided to proceed with CVS, but not to test BB. Fortunately, the fetus was unaffected and BB remains unaware of his disease status. This case illustrates how involvement of the Institutional Ethics Committee demonstrated to both parties the significance of their case. This facilitated expression of fears and needs leading to a mutually agreeable resolution, in which both parties’ needs were met. Prenatal Detection of a Complete Trisomy of 1q M. N. Berry and M. J. Pettenati Wake Forest University School of Medicine, Winston-Salem, North Carolina Trisomies of the long arm of chromosome 1 are rare, generally involve the distal half of the long arm, and are frequently found associated with other chromosome alterations. This is the first prenatal report of a trisomy involving the entire long arm of chromosome 1. A 28-year-old primagravida was referred to our center at 19.9 weeks gestation for a targeted ultrasound due to an ultrasound finding of fetal nuchal thickening. Our ultrasound findings included: a nuchal thickness of approximately 8 mm, bitemporal narrowing, a single choriod plexus cyst, and mild ventriculomegaly. Amniocentesis was performed and revealed an abnormal chromosome complement: 46,XY, der (14) t(1;14) (q11;p11.1). FISH analysis determined that the centromere of the derived chromosome was 14 in origin. Parental chromosomes were normal. Because a liveborn with complete trisomy 1q has not been reported, the parents were counseled that the highest likelihood was that this pregnancy would not go to term. The paucity of information and apparently poor prognosis regarding trisomy 1q made for difficult counseling encounters with this couple. A repeat ultrasound at 25 weeks gestation showed an increased amount of nuchal thickening (1.42 cm), a mass in the chest (4.5 × 4.3 cm) causing the heart to shift, pleural effusion, ascites, skin edema, a hyperechoic bowel, an abdominal mass, an enlarged abdomen, and a two vessel cord. A heart defect could not be ruled out. The baby was stillborn at 26 weeks gestation. The parents inadvertently declined a full autopsy; however, X-rays and photographs were obtained, as were cord blood and tissue. Interestingly, the baby’s peripheral blood showed a mosaicism: 46,XY, der (14) t(1;14) (q11;p11.1)[3]/46,XY[22]. This mosaicism may explain the long-term survival of the fetus. We intend to present our case including the psychosocial issues and review the literature regarding trisomy 1q. Development of Recommendations for Future Amniocentesis Education and Decision-Aiding Videos L. Cheng Sarah Lawrence College, Bronxville, New York One method of utilizing new technology to save time and standardize information provision is to incorporate educational and decision-aiding videos into


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patient-care programs. A significant number of prenatal clinics in the United States and Canada are showing amniocentesis videos to their clients in conjunction with individualized genetic counseling. An investigation into the number of patient-oriented amniocentesis videos produced for clinical use revealed 13 programs. Four of these videos were obtained, and their contents were analyzed by 26 subject-matter experts, using a set of questionnaires developed from previous studies evaluating the quality of educational materials and decision-aids, based in the framework of Consumer Information Processing Theory. The results of the study revealed a number of findings which were developed into the following recommendations: (1) Necessary topics to be covered include the accuracy of chromosome and alphafetoprotein tests, post-amniocentesis instructions and warning signs, and the patient’s choice to forego testing. (2) Be explicit when providing information: (a) state the relevance of the educational content of the video to the patient in the beginning of the program, (b) clearly state the risk of miscarriage using both ratios and percentages, (c) specifically list the capabilities and limitations of amniocentesis on the screen for the viewer in the form of a list. (3) Use graphics and tables to help summarize, simplify, and clarify the information given to the client. (4) Label drawing and images, assuming that the patient has no scientific or medical background. (5) Use multiple client testimonials of women, with and without their partners, who have undergone amniocentesis and genetic counseling. (6) Particular attention should be made to the style and flow of the film, which consistently impacted the overall impression across all four videos. The combined results of this study in conjunction with patient evaluation of the four videos can be utilized by educators and/or health care professionals involved in the development of future amniocentesis video programs. Methotrexate Embryopathy: A Case Report and Review of the Literature S. A. Cohen and L. F. Escobar St. Vincent Hospital, Indianapolis, Indiana The first case of methotrexate embryopathy was reported in 1952 by Thiersch. Since that time, there have been a handful of other case reports. Methotrexate embryopathy has been described with features of cloverleaf skull, typical facial features, prenatal onset growth deficiency, and limb abnormalities. Feldcamp and Carey suggested a critical time period of 6–8 weeks at a dose of 10 mg/week as the teratogenic threshold. We present a case of a woman exposed to methotrexate at 6 weeks gestation for a suspected ectopic pregnancy. She had a normal ultrasound and normal chromosomes (46,XY) on amniocentesis. Follow up ultrasounds revealed polyhydramnios, an atrial septal defect and intrauterine growth retardation. Dysmorphic features at birth were suggestive of methotrexate embryopathy. After repair of a large patent ductus arteriosus, the baby did well until 4 months of age when he developed pulmonary hypertension and died. Family history was significant for a previous twin pregnancy; one twin had holoprosencephaly, unilateral cleft lip, bilateral cleft palate, and a normal 46,XY karyotype. He died shortly after birth; no definitive diagnosis was ever made. This case is unique in that congenital heart defects and pulmonary hypertension have not been reported previously with


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methotrexate exposure. The question remains whether the abnormalities in our case are due to a recurrent genetic condition, due to methotrexate exposure, a combination of methotrexate exposure and a genetic condition, or due to methotrexate exposure and a sporadic heart defect. Medical and Behavioral Risk Factors in a Preconception Counseling Population S. Cooper, M. Strecker, and L. Gilstrap The University of Texas Medical School at Houston, Houston, Texas Background: Preconception counseling is gaining recognition as an effective tool for identifying risk factors and providing opportunities to modify behavior in order to improve pregnancy outcome. Through the Pre-Pregnancy Health Program (sponsored by the Episcopal Health Charities) at a county hospital in Houston, Texas, we ascertained medical, family history, and behavioral information from 1,197 women of reproductive age for the purpose of identifying risk factors for pregnancy-related complications and birth defects. A majority of participants belong to an ethnic minority (24% African American, 68% Hispanic), and many rely on Medicaid or lack health insurance coverage. We were interested in studying this medically underserved population in order to determine specific areas of need and better serve these women in the future. Methods: Participants were ascertained through LBJ General Hospital’s gynecology clinic and asked to complete a survey regarding previous and current medical history, social behavior, and family history. Each form was entered into a database and subsequently screened by a genetic counselor for risk factors. Results: Despite relatively optimistic reports from various folic acid awareness campaigns, only 29% (271/940) of our population had heard of folic acid or “a vitamin that can prevent certain types of birth defects.” Of the 29% that knew of the benefits of folic acid, 37% (103/280) reported taking a daily multivitamin and only 19% (50/271) reported taking folic acid on a regular basis. Nearly 50% (506/1035) of our population reported one or more risk factors that could potentially affect a future pregnancy, and 7.8% (91/1171) of our patients had major risk factors for which preconception genetic counseling was indicated. Conclusions: Knowledge regarding the benefits of folic acid is not satisfactory, and new strategies must be developed to reach economically disadvantaged women. The data also highlight the important role of preconception care and counseling in educating and encouraging women to adopt healthier practices both prior to and during pregnancy, thus reducing the risk of potential pregnancy-related complications and birth defects. Cystic Fibrosis Newborn Screening: Will Anxiety from “False Positive” Test Results Influence Testing Decision Making? E. Estrella, P. Hawley, B. Lerner, and R. Parad Brandeis University, Waltham, Massachusetts On February 1, 1999 the Massachusetts Newborn Screening Program began a pilot study to screen all newborns for Cystic Fibrosis (CF). The goal of the program


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is to identify newborns affected with CF and begin treatment as soon as possible in an attempt to improve quality of life. Preliminary studies from other states with CF newborn screening programs have supported this hypothesis (Farrell et al., 1997). Critics of CF newborn screening cite adverse psychosocial sequelae as a result of CF newborn screening. This concern is greatest with regard to carrier or “False Positive” families, identified as a result of CF newborn screening. It is postulated that the screening test causes unnecessary stress and anxiety, which will interfere with parent–child relationships (Baroni et al., 1997). This study attempts to determine whether “False Positive” families experience increased anxiety as a result of CF newborn screening and if given their experience they would elect CF newborn screening again. In addition, parental attitudes toward CF newborn screening, factors important in decision making, parental knowledge and understanding of CF testing, and carrier status were also evaluated. This was accomplished by surveying via a mailed questionnaire, parents of newborns identified as “False Positive” by the CF newborn screening program from 1/1/99 to 1/1/00. The responses to these questionnaires were compared to responses from parents whose newborns were diagnosed with CF following newborn screening as well as responses from parents whose newborns were screen negative (normals). The results show that parents identified as “False Positive” do experience an increase in anxiety resulting from CF newborn screening as compared to normals. This increased anxiety does not appear to influence parental view or bonding with their newborn. It further shows that despite this anxiety, “False Positive” parents overwhelmingly report that they would again choose CF newborn screening for their child. Parents consistently report that the medical benefit of learning their child’s and family’s carrier status outweighs the putative harm caused by the screening test. The Information Needs of Women Continuing Pregnancies Prenatally Diagnosed with Down Syndrome K. Hays, B. Reininger, R. Ferrante, and V. Vincent University of South Carolina, Columbia, South Carolina The purpose of this study was to identify the information and resource needs of mothers who continue pregnancies prenatally diagnosed with Down syndrome. Eighteen women who received the prenatal diagnosis of Down syndrome at one of three genetic centers and subsequently delivered liveborn infants were interviewed. Of the 18 participants, 13 (72.2%) were Caucasian and 5 (27.8%) were AfricanAmerican. The average maternal age at the time of diagnosis was 31.8 years (range 18–44); the average age of the participants’ children with Down syndrome was 26.4 months (range 1–60 months). The structured telephone interview included questions about the information and resources provided to the participants during their follow-up genetic counseling sessions, usefulness of these materials, and suggestions for similarly situated patients. Participants felt that their genetic counselor’s description of Down syndrome was accurate and resources, such as books, pamphlets, and articles, were useful. Twelve women (70.6%) were given support group information and 11 (64.7%) were given the name of a parent of a child with Down syndrome. The 9 women who contacted a support group and


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10 who contacted another parent felt it was valuable and would recommend it to other women. Seventeen participants reported having additional contacts with their genetic counselor, 14 (82.4%) felt these additional interactions were helpful. The women’s suggestions to other parents were to gather resources and information and to contact support groups and peer parents. Therefore, genetic counselors should give current information and facilitate contact with support groups and peer parents. The final suggestion for genetic counselors and their patients was to refocus attention on the baby rather than the diagnosis. This study provides some insights into ways genetic counselors can best serve families continuing pregnancies after receiving the diagnosis of Down syndrome. Incidence of 22q11 Deletion Detected by FISH Analysis in Pregnancies Identified to Have a Congenital Heart Defect by Ultrasound: Retrospective and Prospective Analysis J. Horwitz, S. Wilson, G. Binder, R. Berry, J. Moore, and A. Lamb Genzyme Genetics, Santa Fe, New Mexico The association of a variety of congenital heart defects in patients with DiGeorge/Velocardiofacial syndrome and a 22q11.2 deletion is well established. In a study of patients with 22q11.2 deletions, 74% were found to have congenital heart defects (DM McDonald–McGinn–McGinn et al. 22q11 deletion syndrome. www.geneclinics.org Sept 1999). It has been estimated that 12.5% of children with congenital heart defects have deletions of 22q11.2 (SB Olsen et al. (1994) Am. J. Hum. Genet. 55: A975). In our study, we seek to define the incidence of 22q11.2 deletions in the prenatal population with heart defects noted on fetal ultrasound. The retrospective analysis includes amniocentesis samples received in our laboratories between August 1, 1999 and April 22, 2000. This sample group consists of those cases with a heart defect seen on ultrasound, a request for FISH 22q11.2, and normal routine cytogenetics results. Out of 105 specimens that fit these criteria, 8 had the 22q11.2 deletion for a 7.6% positive rate (95% confidence interval: 2.4%–12.8%). Since April 24, 2000 we have proactively offered 22q11.2 deletion testing, if not already ordered, for all prenatal specimens with a heart defect noted and the subsequent finding of a normal karyotype. Prospective data through September 23, 2000 will be presented. Since prenatal studies have been limited, we hope these data will aid in decision-making regarding prenatal testing options when a fetus is found to have a heart defect. Sonogram Findings with Brachmann–de Lange Syndrome G. A. Jervis, K. S. Kalter, and B. G. Kousseff University of South Florida Regional Genetics Program and Florida Perinatal Associates, Tampa, Florida We present KK, a 32-year-old woman, G4 P3, who had a sonogram at 21 weeks of gestation which revealed bilateral ulnar hypoplasia, bilateral radial aplasia, single ray distal digit, single umbilical artery, micrognathia and small right pleural effusion. No movements were noted in the elbows. The humeri and


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the legs appeared normal. Fetal growth, fetal echocardiogram, and amniotic fluid volume were also normal. Family history was unremarkable for limb abnormalities. There was a maternal second cousin with Trisomy 13 and a paternal first cousin with Turner syndrome. The differential diagnosis based on the sonogram findings of upper-limb abnormalities included chromosomal abnormalities, Roberts syndrome, Holt–Oram syndrome, Tabatznick syndrome, Weyers syndrome, TAR syndrome and Baller–Gerold syndrome. Amniocentesis at 33 weeks revealed normal female chromosomes and no evidence of premature separation of the centromeres, as seen in Roberts syndrome. RK was born by spontaneous vertex delivery at 37 weeks by dates; birth weight: 2300 g (2nd centile), length: 445 cm (2nd centile) and head circumference: 32.5 cm (2nd centile). Three-vessel cord was reported. RK had micromelia of the arms, bilateral single digital ray, underdeveloped forearms and flexion contractures at 30 degrees were impossible to passively correct. Legs were normal and toes were somewhat small; ears were lowset; synophrys was present; short, upturned nose, long, thin philtrum and thin lips were noted; short neck and low posterior hairline were present; and nipples were wide spaced and hypoplastic. The phenotype was consistent with Brachmann–de Lange syndrome (MIM No. 122470). This is a well-delineated syndrome, which includes limb deformities. RK did not have prenatal growth retardation and did not have lower limb deformities, which can include absent tibia and bifurcated femur. However, the upper limb deformities are consistent with Brachmann–de Lange syndrome. This case illustrates the variability seen in Brachmann–de Lange syndrome and emphasizes the importance to include this condition in the differential diagnosis when limb defects are seen on prenatal sonogram. Genetic Counseling and Prenatal Diagnosis of X-linked Hydrocephalus and Tetralogy of Fallot M. T. Jodah, B. G. Kousseff, and J. L. Angel University of South Florida Regional Genetics Program, Tampa, Florida Congenital hydrocephalus is seen in approximately 0.4–0.8/1,000 livebirths and stillbirths. It may be caused by chromosome abnormalities, neural tube defects, infections, teratogens, trauma, syndromic and nonsyndromic conditions, and mendelian disorders. X-linked hydrocephalus with aqueductal stenosis (HSAS; MIM No. 307000) is the most common genetic form of congenital hydrocephalus; incidence estimated at 1/30,000. The phenotype shows macrocephaly, adducted thumbs, and mental retardation; aqueductal stenosis may or may not be present. Approximately 5% of cases with congenital hydrocephalus belong to this type. The gene, L1CAM (L1 cell adhesion molecule), was mapped to Xq28 along with three other genetic conditions: MASA (mental retardation, aphasia, shuffling gait), ACC (agenesis of the corpus callosum) and SPG1 (spastic paraplegia type 1). This represents allelic heterogeneity with mutations in the same gene resulting in different phenotypes. Associated anomalies typically involve the central nervous system. To our knowledge, this is the first prenatal diagnosis of X-linked hydrocephalus with Tetralogy of Fallot. The patient presented at 18.4 weeks gestation for genetic counseling and prenatal diagnosis. The referral was for suspected


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ventriculomegaly on sonogram and abnormal triple screen suggestive of trisomy18. Prior to counseling, the patient underwent a targeted level II sonogram that showed severe bilateral ventriculomegaly with dangling choroid plexus, bilateral clubbed feet, clenched hands, and a ventricular septal defect. Amniocentesis showed normal chromosomes (46,XY) and alpha-fetoprotein concentration. The couple elected to continue the pregnancy. Repeat fetal sonogram and echocardiogram demonstrated Tetralogy of Fallot. Pedigree analysis revealed an affected maternal uncle and two male cousins, related through females. Their records showed hydrocephalus without aqueductal stenosis. Compared to the counseling provided to the family in 1979, genetic counseling in this case was more complex and extensive because of the sonographic and biochemical findings suggestive of trisomy 18, availability of DNA testing for X-linked hydrocephalus, and the emotional reaction of the patient’s mother, who presumed she was a carrier. Thus, X-linked hydrocephalus remains a challenge for diagnosis and genetic counseling. Klinefelter Syndrome Diagnosed as a Result of Multiple Pregnancy Loss— Creating Unforeseen Dilemmas L. B. Karns and J. E. Ferguson University of Virginia Health Sciences Center, Charlottesville, Virginia We present a case of Klinefelter syndrome diagnosed as part of an evaluation of multiple pregnancy loss. An unexpected finding, this result generated debate involving issues of privacy, confidentiality and disclosure. Mrs. R is a 31-yearold G2A2, initially seen in the first trimester of her second pregnancy. Her first pregnancy ended in a spontaneous loss at 8 weeks of gestation. Both pregnancies were conceived naturally with the same partner and were documented pathologically by products of conception. Following the loss of her second pregnancy, Mrs. R. and her husband were evaluated for possible causes of multiple pregnancy loss. As part of a complete evaluation, cytogenetic analysis was performed. The results of Mrs. R’s studies were normal, however, Mr. R was found to have an abnormal result, 47,XXY, consistent with a clinical diagnosis of Klinefelter syndrome. Men with Klinefelter syndrome are generally expected to be infertile, either due to azoospermia or severe oligospermia. It is highly unusual for a diagnosis of Klinefelter syndrome to be made as part of an evaluation for multiple pregnancy loss. Although there are documented cases of men with Klinefelter syndrome fathering children, these results raised the possibility of nonpaternity in both pregnancies. Unlike the context of other genetic testing, the issue of nonpaternity was never discussed prior to obtaining consent for cytogenetic analysis. This completely unforeseen result created a dilemma regarding disclosure of results. Considerable debate ensued among members of the medical team regarding the issue of nonpaternity. How could we call Mrs. R to explore this issue without violating Mr. R’s privacy? In light of the few published cases of paternity in men with Klinefelter syndrome, how strongly should this issue be addressed, as after all, this is speculated but not proven nonpaternity. We will present the resolution of this case and discuss how the ethical issues impacted the counseling strategy.


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Prenatal Diagnosis of Fragile X Syndrome: Identification of a Male Fetus Mosaic for a Premutation on Chorionic Villus Sampling—Management and Follow-up S. J. Kennedy, C. Wei, L. Steele, and A. S. Teebi1 The Hospital for Sick Children, Division of Clinical and Metabolic Genetics, Toronto, Ontario, Canada Families at risk to have a child with fragile X syndrome are routinely counselled regarding the limitations of performing prenatal analysis via chorionic villus sampling (CVS) due to incomplete methylation status at this point in gestation. However, this testing option appeals to families due to the timing of the prenatal procedure. Here we report on the identification of a male fetus, by polymerase chain reaction (PCR) and Southern blot analysis, mosaic for a premutation. The mother carries a premutation allele with a (CGG)n repeat size of 101 and was identified as a carrier after her first son was diagnosed with fragile X syndrome (630 repeats). Analysis of direct CVS in the current pregnancy identified a male fetus. Molecular analysis revealed a fetus mosaic for FMR-1 alleles with (CGG)n repeat sizes ranging from 130–170. After counseling, the couple chose to pursue amniocentesis to confirm that the expansion in the extraembryonic tissue accurately reflected the somatic expansion size in the fetus and to assess FMR-1 methylation status. Amniocentesis revealed a male with an unmethylated premutation and a (CGG)n repeat size of 170 repeats. Based on these findings we predict that the fetus is unlikely to be affected with fragile X syndrome. Analysis of cord blood at birth revealed an unmethylated premutation and a (CGG)n repeat size of 150 repeats. The majority of published recommendations regarding the identification of a male carrier of fragile X syndrome on CVS suggest confirmation of this result through amniocentesis or cordocentesis. Additional cases describing the accurate diagnosis of male carriers of fragile X syndrome by CVS need to be reported to facilitate the development of evidence-based protocols regarding the management of these cases. This could potentially alleviate the need for a second invasive prenatal procedure. Excessive First Trimester Use of Isoniazid and Pregnancy Outcome C. Lovell, L. Seaver, and R. Schroer Greenwood Genetic Center, Greenwood, South Carolina Our patient presented for genetic counseling based on an overdose of isoniazid (INH) at approximately 8 weeks gestation. She was a G3 P2 Ab0, 21-year-old Mexican who had been experiencing depression and took 36 of her husband’s INH pills in an attempt to commit suicide. She was unaware of her pregnancy at the time of the ingestion. Historically, INH has been the antimicrobial drug of choice when treating women with tuberculosis during pregnancy. Known effects for therapeutic doses of INH on a developing fetus include intrauterine growth retardation, central nervous system anomalies, skeletal malformations, neural tube defects (anencephaly), cardiac defects, and possible lifetime cancer risk. This risk is estimated to be 1–2%. Literature review revealed a single case report of a


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Mexican-American female who took 50 INH pills at approximately 12 weeks gestation in an effort to commit suicide. Her pregnancy ended in a stillbirth at 27 weeks gestation. Fetal autopsy showed malformations compatible with the diagnosis of Arthrogryposis Multiplex Congenita. Multiple joint contractures involving ankles, knees, hips, fingers, wrists, elbows, and shoulders were noted. The authors of this case report speculate about whether their findings in this fetus were coincidental or whether this “safe” drug is dangerous in excessive amounts during pregnancy. Our patient delivered at approximately 40+ weeks gestation. The baby’s newborn physical examination was normal. He had no musculoskeletal deformities. Hence, there was no definite evidence of prenatal effects from exposure to INH. We offer our case as food for thought in the discussion of the teratogenicity of isoniazid in excessive amounts during early pregnancy. How do Patients’ Health Loci of Control and Points of Referral Affect Their Perceptions of and Responses to Pre-Amniocentesis Genetic Counseling? S. Moramarco, R. Zinberg, and J. McGlynn Department of Human Genetics, Mount Sinai School of Medicine, New York, New York Genetic counseling prior to amniocentesis has become an integral part of women’s routine obstetric care. As the demand for genetic services increases, genetic counselors continue to expand their understanding of the complexities of the overall counseling process. In the past, many studies have assessed client expectations and satisfaction within the genetic counseling setting. However, they have not addressed the situation of counseling to two different cohorts of patients—those referred by private obstetricians and those referred by an urban hospital’s prenatal clinic—and how their respective needs and responses to formal genetic counseling may differ. In order to assess satisfaction with pre-amniocentesis counseling and fulfillment of expectations as they relate to a patient’s point of referral and health locus of control, we are surveying women who are considering the option of amniocentesis at The Mount Sinai Medical Center. These women receive ongoing prenatal care from private obstetricians or the hospital’s prenatal clinic. Upon arrival to the session, a precounseling questionnaire assessing demographics, health locus of control, and expectations of the service is distributed. A postcounseling questionnaire is mailed to the client approximately two weeks after the amniocentesis is performed or two weeks after the counseling session, if amniocentesis is declined. This questionnaire assesses the fulfillment of expectations and the overall satisfaction with the experience. The information gained from this investigation will enable counselors to anticipate and meet the specific needs of their clients who are referred from distinct settings, thereby improving the quality of the genetic counseling experience. A Study of the Attitudes of Individuals Affected with and At-risk for Hereditary Hemorrhagic Telangiectasia Toward Prenatal Diagnosis J. Murphy, M. Faughnan, R. Hyland, and S. Kennedy The Hospital for Sick Children, Toronto, Ontario, Canada


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HHT is an autosomal dominant, genetically heterogeneous disorder involving abnormalities in the vascular structure. In 1994 and 1996, two causative genes for HHT were identified. HHT type 1 (HHT1) is on chromosome 9q34 and encodes the endoglin protein. HHT type 2 (HHT2) maps to chromosome 12q13 and encodes a TGF-b receptor, activin receptor-like kinase (ALK1). An endoglin protein assay and molecular testing, for both endoglin and ALK1, are currently available on a limited basis through a research laboratory. It is anticipated that molecular testing will eventually become available on a clinical basis and that prenatal diagnosis (PND) will become an option for families with HHT. We surveyed the attitudes of affected and at-risk individuals with HHT towards PND to assess the potential demand for this service. From two centers in Toronto, a total of 207 eligible individuals were invited to participate in the study. Preliminary results from 53 completed surveys indicated that the majority were interested in utilizing PND. Demographic factors, other than sex, did not appear to impact perceived utilization of this service. Most respondents indicated that they would want to have a say in whether they received PND for HHT, and the majority indicated that they would only use this service if it had a 0% risk of miscarriage. Perceived burden of disease and the severity of symptoms of HHT were found to be predictive factors of an individual’s willingness to use PND that has a risk of miscarriage. These factors also appeared to impact upon the acceptability of termination of pregnancy for HHT, although the vast majority felt that termination of pregnancy for HHT was unacceptable. By gaining a better understanding of the factors involved in decision making regarding PND for HHT and patient interest in this service prior to its availability, we hope to be better prepared to serve and understand the needs of this patient population. Prenatal Counseling for a Rare Event: An Inherited Ring Chromosome 19 G. Ouellette, N. Bolduc, A. Duncan, and V. D´esilets McGill University Health Centre, Montreal, Quebec, Canada Ring chromosomes are rare cytogenetic anomalies, especially in autosomes. Moreover, among patients with rings, the proportion of cases with inherited rings is probably no more than 1%. We report on a prenatal diagnosis of a ring chromosome 19 found in a non-mosaic form on a repeat amniocentesis (46,XX,r(19)) and subsequently in the phenotypically normal mother in a mosaic state (46,XX,r(19)[15]/46,XX[85]). The breakpoints have been assigned to bands 19p13.3 and 19q13.4 but a small deletion cannot be excluded. It should be noted that the amniocyte culture from a first sample failed to grow. Detailed ultrasonography and fetal echocardiography were performed. No abnormalities or growth failure were observed. The presence of a ring 19 chromosome morphologically identical to the mother does not exclude the possibility of an abnormal fetal outcome. The parents in the present case were faced with a heartbreaking dilemma and finally opted for termination. Upon autopsy, no particular external dysmorphic features were noted in the fetus. However, a dysmature villous pattern in the placenta was observed. Fetal blood karyotype was found to be 46,XX,r(19)[96]/45,XX, -r(19)[2]/46,XX[3]. Prenatal counseling was difficult because of the rare occurrence of inherited rings in general and of this event in particular (7 cases of ring


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chromosome 19 reported, including only one familial). Data in the current literature suffers from ascertainment bias. A “ring syndrome” has been described for patients with an autosomal ring (severe somatic retardation, no major malformation, no or only a few minor anomalies, mild to moderate mental retardation). It is believed that familial cases have even milder clinical manifestations than the sporadic cases. However, one report revealed that in about one third of familial cases, the offspring were more severely (mentally) affected. Conflicting predictive factors, diagnostic uncertainty, problematic genetic counseling, and final outcome related to this rare cytogenetic finding will be discussed. A Study of Women Whose Pregnancies were Affected by a Neural Tube Defect J. Rinsky-Eng and L. Miller Colorado Department of Public Health, Denver, Colorado Objectives: To determine whether women who have had a pregnancy affected by a neural tube defect (NTD) are knowledgeable of the 1991 Centers for Disease Control and Prevention (CDC) recommendations to prevent NTD recurrence. Purpose: Educate women about these recommendations for future pregnancies. Methods: Colorado women who had a pregnancy affected by an NTD in 1999 or later were identified through Colorado Responds to Children with Special Needs (CRCSN)—the birth defects monitoring and prevention program in Colorado. A genetic counselor telephoned women to provide counseling and information regarding folic acid and NTDs. The counselor also asked about knowledge of NTD recurrence prevention, current folic acid use, and plans for another pregnancy. Women were offered written information and a voucher for free folic acid. Results: Twelve women have been interviewed whose pregnancies ended in 1999. Thirty-six percent of women interviewed were aware, prior to their affected pregnancy, of the recommendations to consume 0.4 mg of folic acid prior to becoming pregnant. Only 36% of the women interviewed were aware of the recommendation to consume 4.0 mg of folic acid when planning a subsequent pregnancy. Not all women who were aware of the 4.0 mg recommendation were aware of the 0.4 mg recommendation. About half of women reported that they currently take a vitamin with folic acid. At the time of the interview, 9% of women were pregnant; 45% of women said they were planning another pregnancy in the future; 27% said they were not planning additional pregnancies; and 27% said they were not sure. Eightyone percent requested that information regarding folic acid and neural tube defects be sent by mail. Conclusions: Several years after the 1991 CDC NTD recurrence prevention recommendation, only 36% of women with affected pregnancies were aware of the recommendation. Health care providers, genetic counselors, and public health officials need to assure that education regarding folic acid is provided to women with NTD-affected pregnancies. The Unexpected Finding of Congenital Nephrosis in the Fetus of an Ashkenazic Jewish Couple B. Schmalz, M. Aulik, and R. Reiss Ohio State University, Columbus, Ohio


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JC was referred for prenatal diagnosis due to advanced maternal age of 38 years. She is Jewish of German and Russian ancestry; her husband is Jewish of Russian and Turkish ancestry. Her ultrasound evaluation at 18 weeks gestation was within normal limits. Fetal karyotype was 46,XY. An unexpected finding was a markedly elevated amniotic fluid alpha-fetoprotein (AFAFP) level of 19.8 multiples of the median (1833.8 ng/ml). Acetylcholinesterase (AChE) was negative with no evidence of fetal blood contamination. (Records from an amniocentesis in JC’s previous pregnancy with a normal outcome revealed an AFAFP level of 1.15 MoM.) At 20 weeks gestation, JC’s serum AFP was drawn and a repeat amniocentesis was performed. The MSAFP was 8.44 MoM; AFAFP was 17.1 MoM (1084.9 ng/ml). Amniotic fluid levels of albumin (280 mg/dl) and transferrin (13 mg/dl) were not elevated over controls. Cells were sent to the University of Oulu, Finland for prenatal diagnosis of congenital nephrotic syndrome (CNS). The most common form of this condition is the Finnish type (NPHS1). Proteinuria associated with NPHS1 often presents prenatally as markedly increased AFP levels. Without dialysis and kidney transplantation, the condition is lethal. Congenital nephrotic syndrome is caused by mutations in the nephrin gene. Diagnosis of congenital nephrotic syndrome at the University of Oulu is achieved through sequencing all 39 gene exons, as well as the core promoter DNA. Current data indicate that the majority of mutations causing NPHS1 are detected by this method. Sequencing of fetal DNA from JC’s sample did not identify any detectable mutations in either fetal nephrin allele. A third amniocentesis was performed at 23 weeks gestation. The AFAFP was 9.97 MoM (369 ng/ml); albumin and transferrin were not elevated at 257 mg/dl and 17.8 mg/dl, respectively. The couple elected to proceed with a fetal renal biopsy at Thomas Jefferson University Hospital. Pathology results from the biopsy were consistent with congenital nephrotic syndrome. The pregnancy was terminated following these results. The Association Between First Trimester Screening and Maternal Anxiety M. Shepard, E. Pergament, and K. DeMarco Northwestern University, Chicago, Illinois The goal of this study was to determine the level of maternal anxiety associated with first trimester screening for aneuploidy. Research has suggested that heightened maternal anxiety is related to various pregnancy complications; it is important, therefore, to ascertain the anxiety levels in women undergoing screening procedures. This anxiety study was conducted in conjunction with the NIHsponsored Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening study, which provides women between 10 and 14 weeks gestation with a risk assessment for Down syndrome and trisomy 18. In our current study, 47 women participating in the NIH study protocol for first trimester screening were also given the Spielberger State-Trait Anxiety Inventory (STAI) on three occasions: prior to screening, immediately after receiving the risk assessment, and two weeks after receiving the risk assessment. The Spielberger STAI measures the amount of anxiety present at a particular point in time (State anxiety) and the level of anxiety generally present in a person’s life (Trait anxiety). Only the patients receiving negative screen


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assessments were included in our current study. In the study population it was found that State anxiety was significantly increased over Trait anxiety prior to screening but once participants were aware of their results, anxiety decreased significantly. Two weeks afterwards, the anxiety rose slightly, although this was not statistically significant. Utilizing previously published data, comparisons were made to women in their first trimester not undergoing screening. Subjects undergoing first trimester screening had transiently increased anxiety prior to screening ( p = 0.010) as compared to the controls but these same subjects were significantly less anxious after screening ( p = 27, elevated systolic blood pressure, Mexican or African American heritage, and a strong family history of type 2 diabetes. Counseling Without Prognostic Information J. Habecker-Green, V. L. Ramey, and G. Cohn Baystate Medical Center, Springfield, Massachusetts In pediatric genetic counseling there are generally 3 categories of patients: those who can be diagnosed with a specific known condition and provided with


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information about that condition, those who cannot be diagnosed at all, and those who receive a diagnosis about which there is little or no information. The third category may include individuals with previously undescribed chromosomal anomalies, individuals with extremely rare conditions, and individuals with a described diagnosis but atypical presentation. We present a series of nine cases for which diagnostic information was available, but prognostic information was not and discuss similarities in psychosocial processing. We found that the initial reaction of parents receiving isolated diagnostic information was anger. In some cases, expressed anger was so extreme it interfered with medical treatment of the affected child. It has been assumed in genetic counseling that diagnostic information provides meaning and thus a sense of control. Control is thought to aid in the acceptance of threatening facts [Kessler S (1984) Psychologic responses to stresses in genetic disease. Birth Defects OAS 20:114–117]. Interactions with our group of patients implies that, at may be prognosis. Our group of parents did, with time, resolve their anger, and learned to accept the uncertainty of their child’s condition. The turning point seemed to be the acceptance of their child’s uniqueness. The ability to say “she’s one of a kind” with fondness and pride was a clear indicator that the parents were moving forward with their lives. This group of nine sets of parents includes five who volunteered themselves or their child to provide other parents or the medical community with additional information about their child’s condition. These numbers are greatly in excess of our experience with other groups of patients. Influence of Support Network Status on Coping Skills Used by Parents of Children with Neurofibromatosis M. Hathaway, E. Schorry, A. Lovell, and J. Zins University of Cincinnati, Cincinnati, Ohio Neurofibromatosis type 1 (NF1) affects approximately 1 in every 3,000 people, making it one of the most common genetic conditions. In addition to medical complications, individuals with NF1 may experience learning difficulties and behavioral problems. Parents of children with NF1 may face stressors related to these difficulties, and because the progression of NF1 is both unpredictable and variable. How parents cope with these stressors influences their physical and psychological health, the well-being of the child with NF1, and family adaptation to the condition. This descriptive study explores the role of social support in parents’ ability to cope with their child’s diagnosis of NF1. Subjects consist of 53 parents or guardians of children, age 18 or younger, who have had a diagnosis of NF1 for at least 12 months. Subjects were ascertained using two methods: convenience sampling at the multidisciplinary NF Clinic at Children’s Hospital Medical Center in Cincinnati, OH, and via a mail survey. Subjects completed a coping assessment tool, entitled the COPE, and a questionnaire containing demographic and social support questions. Subjects with a high social support network scored significantly higher for COPE measures of Positive Reinterpretation and Growth, Active Coping, Planning, Emotional Support, and Instrumental Support. Subjects with low support networks scored significantly higher for the Denial subscale. Data are further analyzed for relationships between coping abilities and parental variables including gender, marital status, age, education, diagnosis of NF1 in the parent,


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and percent of life stress due to raising a child with NF1. Relationships between parental coping abilities and variables associated with the child, such as time since diagnosis, parental perception of severity of the child’s NF1, and clinical severity ratings are also examined. Comparisons are made between parental perception of the child’s severity of NF1, and the child’s clinical severity rating. Suggestions for future research and recommendations for implementing study results into clinical practice are included. Perceptions of Reproductive Risk and Carrier Testing Among Adolescent Sisters and Parents of Individuals with Chronic Granulomatous Disease C. James, N. Holtzman, and D. Hadley National Human Genome Research Institute, Bethesda, Maryland Although substantial research has investigated the impact of having a sibling with a chronic disease, little is known about how genetic etiology influences an adolescent sibling’s experience, impeding the provision of effective genetic counseling. To explore adolescent sisters’ (1) perceptions of their reproductive risks, (2) resources for information and support, and (3) attitudes toward carrier testing (appropriate age, risks, benefits), we interviewed 14 parents and 9 sisters (age 12–15) of males with Chronic Granulomatous Disease (CGD), a primary immunodeficiency disorder inherited in both an X-linked recessive and autosomal recessive fashion. Our semistructured telephone interviews were audiotaped, transcribed, and subjected to template analysis (a common qualitative methodology). Girls were all aware that CGD is an inherited condition and each had made an assessment of her reproductive risk. All girls considered their parents their best source of information and support. However, girls reported sometimes having trouble initiating discussions for fear of upsetting their parents. Girls commonly favored carrier testing at a later age than their parents. Even girls who favored carrier testing for minors expressed more concerns about psychological risks associated with testing than did parents. Four out of 14 parents considered childhood carrier testing necessary for medical knowledge and the emotional adaptation of the child. Eight out of 14 parents advocated carrier testing during adolescence based on concerns about their child becoming sexually active. All girls and parents believed eventual carrier testing was vital for reproductive decision-making and relationship-building. This study provides insight into the experiences of families with CGD, which may have relevance for other X-linked and autosomal recessive conditions. We found that adolescent sisters think about their reproductive risks, develop opinions about carrier testing, and want to discuss these issues with their parents, but have trouble initiating conversations. Therefore, including adolescent sisters in family-based genetic counseling would be beneficial. Further research is needed to explore how counselors can facilitate communication within families about these issues. Hearing Parental Voices: An Opinion Survey on the Use of Facial Reconstruction for Children with Down Syndrome


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M. Lewis, J. Tsipis, D. Robison, J. Maranian, and C. Brasington Brandeis University, Waltham, Massachusetts While facial reconstruction for children with Down syndrome has remained a controversial procedure for several decades, parents of children with Down syndrome have had few opportunities to express their opinions regarding this intervention. For this reason, a national Internet parent survey was created to facilitate an open discussion on this topic. This survey was designed to accomplish two goals: to ensure that parents’ feelings about this procedure were being thoroughly represented, and to further assess the social value of facial reconstruction for children with Down syndrome. In this project, 265 parents participated to share their perspectives on various issues regarding facial reconstruction as well as other medical interventions. The majority (87.5%) of our respondent population thought surgical procedures were appropriate when used to improve the physical health of a child. By contrast, altering a child’s self-esteem or increasing social acceptance of a child were considered inappropriate reasons for surgical intervention by a majority of parents. Most respondents did not think at the time of diagnosis that their child’s facial features would negatively affect parent/child bonding, the child’s self-esteem, or the child’s social development. Though most parents (70.9%) believed at the time of diagnosis that the facial features of Down syndrome would decrease social acceptance of their child, many respondents had since discovered that these facial features provide helpful social cues. Parents had significant concerns about the physical risk of the surgery, as well as the child’s reaction to facial reconstruction. Most respondents (90.6%) indicated that they would not pursue this procedure for their child if it were made available to them. While parents supported the notion of further integrating children with Down syndrome into society, facial reconstruction was not considered an appropriate avenue toward achieving this goal. Parents offered alternative suggestions on how families and society could facilitate increased integration of children with Down syndrome. Genetic Counseling for Congenital Fibrosis of the Extraocular Muscles (CFEOM) N. McIntosh and E. C. Engle Children’s Hospital, Boston, Massachusetts Congenital fibrosis of the extraocular muscles (CFEOM) refers to a genetically heterogeneous group of congenital eye movement disorders that are characterized by restrictive ophthalmoplegia and result from dysfunction of all or part of the oculomotor nerve and/or the muscles it innervates. Affected individuals are born with their eyes in an abnormal primary position and have restricted movements into some or all fields of gaze. The disorder is congenital, nonprogressive, frequently associated with ptosis, and can affect one or both eyes. If left untreated, CFEOM can result in amblyopia and blindness. The genetic component of familial cases has been appreciated since 1879 and to date three CFEOM loci (CFEOM1-3) have been identified. However, adequate information for genetic counseling purposes,


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specifically regarding prevalence, variability of clinical presentation, and mode of inheritance is lacking. We present clinical and genetic data on 34 families and 14 sporadic cases of CFEOM. Analysis of the families shows that CFEOM is found in diverse ethnic groups, and the minimal prevalence in the United States is 1 in 2.3 million individuals. Clinically, individuals in our database can be classified as either classic or non-classic CFEOM. Individuals with classic CFEOM are born with bilateral ptosis and ophthalmoplegia with both eyes partially or completely fixed in a downward position and have an inability to raise either eye above the horizontal midline. Individuals with non-classic CFEOM are born with unilateral disease, one or both eyes fixed above the horizontal, or the ability to raise one or both eyes above the horizontal. Families in which all affected individuals exhibit a classic CFEOM phenotype are referred to as having a classic CFEOM presentation. The most common presentation is the classic phenotype. All classic CFEOM families exhibit autosomal dominant inheritance with complete penetrance and their disease genes nearly always map to the CFEOM1 locus. However, autosomal dominant inheritance with reduced penetrance and variable expression, and autosomal recessive inheritance have been documented. Genetic testing by linkage analysis on a research basis is available. Healthcare Professionals’ Perspectives on Individuals Born with Ambiguous Genitalia J. Ng, L. Murrelle, P. Kaplowitz, L. Phelps, P. Sprecher, and J. Ellison Medical College of Virginia at Virginia Commonwealth University, Richmond, Virginia Individuals born with ambiguous genitalia are in a unique situation both medically and socially. Sex assignment is based on a variety of factors, including chromosomal makeup, the potential fertility and function of the internal and external genitalia, and the presence or absence of sex hormones or their precursors. Different specialists are consulted in these cases for diagnosis and treatment. The purpose of this project was to discover if differences in beliefs about gender identity influence decisions regarding patient treatment, to see what different clinicians experienced in handling these cases, and to ascertain how much exposure to genetics and genetic counseling that patients of these specialists have. Genetic counselors completed the survey at the 1999 NSGC meeting, pediatric endocrinologists completed the survey through an electronic message board, and geneticists completed the survey through postal mailing, giving a total response rate of approximately 10% (135 completed surveys). It was found that although the majority of clinicians (43.6%) thought that parents should make most of the decisions regarding gender and sex of rearing, their experience was that the endocrinologists (26.4%) and urologists (34.6%) made the majority of decisions. While most of the surveyed physicians (61.5%) believed that hormones are what determine gender identity, the majority of genetic counselors (29.4%) believed that the appearance of the external genitalia is the determining factor. Although gender identity (54.7%) and function (37.5%) are considered more important than aesthetic appearance and function in determining sex of rearing, the majority of clinicians (44.4%)


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would have intersexual children undergo cosmetic reconstructive surgery on their external genitalia as infants. The majority of the clinicians’ patients always receive referrals for genetic counseling (50.5%), psychological counseling (60.9%), and support groups (65.7%). In conclusion, genetic counselors, geneticists, and endocrinologists have varying experiences and beliefs regarding individuals born with ambiguous genitalia. These differences appear to influence treatment approaches of specialists caring for individuals born with ambiguous genitalia. Stigma and Coping Responses in Children with Neurofibromatosis Type 1 and Their Unaffected Siblings L. Pike-Buchanan and B. Biesecker Johns Hopkins University, Baltimore, Maryland Although clinical experience suggests children in families with neurofibromatosis type 1 (NF1) experience stigma, no prior studies have been done to investigate this. Assessing stigma in children with NF1 may enhance the effectiveness of genetic counseling, given the potential negative impact stigma may have on overall adjustment. Using a qualitative approach, one of us (LP-B) interviewed 22 children, 11 with sporadic NF1 and 11 unaffected siblings of these children, between the ages of 7 and 17 years to gain insights about their stigma experience and subsequent coping responses. Analysis of interview transcripts revealed themes contributing to the stigma experience which could be grouped into dimensions, or categories. The two most significant dimensions pertained to an ability to hide the stigma (concealability) and the effect of the stigma on social interactions (disruptiveness). The themes that emerged from the concealability dimension were covering the physical stigmata of NF1 and concealing the diagnosis, mainly through secrecy. Significant themes that materialized from the disruptiveness dimension were teasing, ability to form and maintain friendships, learning disabilities, diminished involvement in sports activities, and physical pain. Stigma, whether experienced or anticipated (expected to occur in the future), was found in all of the affected participants. With one exception, the unaffected siblings did not experience or anticipate stigma due to their sibling’s NF1. The coping response utilized most often by this study population involved an attempt to prevent the stigmatizing event from happening by changing the situation around it. This coincides with the concealability dimension of stigma. A second coping mechanism involved an attempt to control stress after the stigmatizing event occurred. A recurrent theme among affected children was a strong need for social support from other children with NF1. This need was not prevalent among the unaffected siblings. Findings from this study will help genetic counselors and other health care professionals to anticipate concerns about stigma in these children and to explore effective ways of coping with them, such as participating in peer support groups. Mutation in FGFR2 Gene and Absence of Craniosynostosis L. Terry, F. Schaefer, and T. Jewett Wake Forest University, Winston Salem, North Carolina


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Advances in molecular studies have shown that mutations in the fibroblast growth factor receptor (FGFR) genes are responsible for six autosomal dominant craniosynostosis syndromes. Specifically, mutations in FGFR2 have been identified in Crouzon, Pfeiffer, Apert, and Jackson–Weiss syndromes. A mutational hotspot in the FGFR2 gene involves the replacement of cysteine at codon 342 and the disruption of the third immunoglobulin-like domain involved in ligand binding. The C342Y mutation in FGFR2 is described in Crouzon and Pfeiffer syndromes resulting in severe craniosynostosis with or without digital malformations. To further expand the phenotype of this mutation, we describe a nine-month-old female infant with a C342Y FGFR2 mutation who has craniofacial and digital anomalies but no evidence of craniosynostosis. Our patient was born at full term to a 39-year-old G3P2A0 woman. Birth weight was 3657 g (75th–90th percentile) and length was 50.8 cm (50th percentile). At six months of age, the patient’s weight had fallen to the 40th percentile, and she was frequently refusing to feed. The patient was admitted to the hospital at nine months of age for evaluation of FTT at which time she was evaluated by a clinical geneticist. Her features include relative macrocephaly, large anterior fontanelle, ocular hypertelorism, proptosis, downslanting palpebral fissures, depressed nasal bridge, narrow palate, maxillary hypoplasia, and broad great toes. A skeletal survey revealed a normal skull and triangulation of the distal phalanges of the great toes. A head CT scan was normal without evidence of craniosynostosis. Subsequent molecular testing of the FGFRs indicated a C342Y mutation of FGFR2. Our case serves to widen the clinical variability associated with a mutation in codon 342, a critical region of the FGFR2 gene. Although the craniofacial and digital anomalies present in this case have been previously described, to our knowledge, the absence of craniosynostosis has not been described, which expands the phenotypic variation of this mutation. This case underscores the importance of providing a range of possible outcomes for individuals with FGFR mutations. VII. PROFESSIONAL ISSUES Assessing Parental Perception of the Cause of their Child’s Diagnosis Using Anophthalmia as a Model T. Bardakjian, M. Dwyer, and A. Schneider Albert Einstein Medical Center, Philadelphia, Pennsylvania Parents of children with anomalies or genetic conditions seek explanations about the cause of their child’s problem. There are certain conditions that do not yet have a well-understood genetic etiology, which can make counseling families difficult. Anophthalmia/microphthalmia (A/M) is a rare birth defect with etiologic heterogeneity. As a result, parents of children with A/M may be more likely to judge environmental factors as the cause of problems in a child than parents who have children with a well-defined genetic condition or parents with healthy children. A questionnaire was sent to parents of children with A/M, Down syndrome, and those with no known problems. Parents were asked to rate their beliefs


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on possible causes of A/M, Down syndrome, and muscular dystrophy. Ratings were based on a scale of zero being no effect and 100 meaning the factor is the sole cause of the given disorder. A total of 90 questionnaires were returned. Fortyfive were from parents of children with A/M. Fourteen of these were collected at the conclusion of the A/M educational conference where the genetics of A/M was discussed in great detail and DNA samples were collected for gene screening. Twenty questionnaires were from parents of children with Down syndrome and 25 were from parents of healthy children. The parents of children with A/M rated genetic/chromosomal causes lower than other groups did as a cause of A/M and muscular dystrophy. They also considered pesticides to be more of a factor in the cause of all three disorders than the other parent groups. We also discuss the differences in A/M parents’ responses postconference to those who did not attend the conference. The developed questionnaire can be used to assess parental beliefs concerning a variety of possible causative factors of any condition. A discussion of how humans reach contingency judgements to determine cause and effect, as well as what implications these beliefs have on the genetic counseling process will be presented. Cross-Cultural Genetic Counseling Issues in Individuals of Pakistani Descent in Brooklyn, NY: A Genetic Counseling Survey S. Barrett, D. Rosa, S. Begum, A. Hafeez, and G. Kupchik Maimonides Medical Center, Brooklyn, New York Maimonides Medical Center is located in an area of racial and ethno-cultural diversity where cross-cultural communication is often a challenge. Approximately 15% of the patients in our medical genetics division originate from Pakistan and many practice a conservative form of Islam. Often included in genetic counseling sessions are issues regarding autopsy, prenatal diagnosis, and termination of pregnancy. In general, the majority of individuals tend to make these difficult reproductive decisions based on their religious beliefs. According to Muslim law, none of these procedures are strictly forbidden. We developed a survey that asked individuals of Pakistani origin to respond to scenarios which asked them to choose their most likely course of action in each scenario. Demographic and social parameters were also recorded to see how certain social factors might influence responses. From the early data, we were surprised to note this population’s apparent disdain for autopsy, while their responses to the prenatal diagnosis and the termination of pregnancy scenarios were not appreciably different from the control group. More intriguing was the difference in response to the autopsy scenario between the study population and non-Pakistani Muslims. The data presented suggests a cultural, rather than religious, bias against autopsy in this study population. Genetic Counseling in the Bone Marrow Transplant Setting for Adrenoleukodystrophy Families L. Berkheim, M. Ahrens, and B. LeRoy University of Minnesota, Minneapolis, Minneapolis


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Adrenoleukodystrophy (ALD) is an X-linked genetic disorder of very long chain fatty acid metabolism that affects the nervous system white matter and the adrenal cortex. Bone marrow transplant is the most promising treatment for the severe phenotype, childhood-onset cerebral adrenoleukodystrophy (COCALD). Genetic counseling, not a traditional component of the bone marrow transplant service at the University Medical Center, has recently been incorporated into the evaluation and consultation for COCALD patients. This provided us the opportunity to study the utility of genetic counseling for patients seen in this unique setting and assess family perceptions regarding the genetic issues of greatest concern. Parents of eleven COCALD patients who had bone marrow transplant participated in a structured phone interview. The results of this study indicate that information traditionally provided through genetic counseling appears to be of varying utility to families during the course of the bone marrow transplant process. The genetic issues identified as being of greatest concern are the genetic mechanisms of inheritance including risk, genetic testing options, psychosocial issues, and the variability of the disease. Also identified as being significant was information about support systems and life after a transplant. Issues relating directly to the transplant appear to be of greatest concern. Information from this study was used to develop written patient materials specifically for this unique setting. The implications to genetic counseling practice are discussed. Assessing the Need to Expand the Profession: Should Genetic Counselors Be Employed by Dialysis Corporations? V. Binns and V. Hannig Beaver College, Glenside, Pennsylvania The End-Stage Renal Disease (ESRD) program is expanding at a rapid rate, making it an attractive market for independent and corporate entrepreneurs. Although an increasing number of patients require treatment, numerous reports have highlighted the need for physician extenders and have documented a lack of genetic knowledge within the ADPKD and Alport syndrome populations. Because many of these patients reach ESRD, the present study examined the need for genetic counselors’ employment by dialysis facilities. A quantitative and qualitative questionnaire was distributed to nephrologists, nephrology social workers, and genetic counselors, in order to assess their experience with these hereditary renal diseases, knowledge of genetics, and the perceived need for genetic counselor involvement with ESRD patients. Results demonstrate that nephrologists and nephrology social workers are fully extended, and that nephrologists and genetic counselors have greater genetic knowledge than nephrology social workers. The majority of professionals responded that corporations should employ genetic counselors at least on a regional or consultation basis. Thus, results from this study open a new avenue for the genetic counseling field, suggesting that genetic counselors may indeed be valuable ESRD extenders. Future research is proposed, with the inclusion of cost/benefit analysis.


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Parental Attitudes Toward Genetic Testing for Pediatric Deafness J. W. Brunger, A. L. Matthews, M. O’Riordan, G. S. Murray, R. J. H. Smith, and N. H. Robin Case Western Reserve University School of Medicine, Cleveland, Ohio Recent advances in understanding the molecular genetic basis of deafness has resulted in genetic testing becoming an option for deaf individuals and their families. However, there is little information about the level of interest in such testing. To investigate this question, a survey was carried out addressing attitudes toward diagnostic, carrier, and prenatal genetic testing for deafness. The target population, parents with normal hearing who have one or more deaf children, represents the vast majority of individuals who will be encountered in clinical practice, as 90–95% of deaf individuals are born to normal hearing persons. Collaborating audiologists, otolaryngologists, and geneticists distributed 328 questionnaires, and 96 (29%) were completed and returned. Overall, 96% recorded a positive attitude toward genetic testing for deafness, including 70/96 (76%) who were interested in or had had such testing. 61/70 (87%) believed that genetic testing for deafness should be offered prenatally, but only 1/61 stated she would terminate her pregnancy because of profound deafness. The vast majority would not terminate such a pregnancy and did not believe that deafness implied a poor quality of life. In general, however, these parents had a poor understanding of genetics. The vast majority (98%) incorrectly estimated the recurrence risk of deafness, and misunderstood the mode of inheritance in their family. Notably, these findings were similar in both the group who had had genetic testing for their children and those who had not had testing. This similarity suggests that the parents who received genetic testing (n = 32) did not receive genetic counseling, or that the counseling was not effective. Based on these results, we conclude that this population is interested in utilizing genetic testing. The testing should not be done without first providing formal genetic counseling. By including appropriate counseling, the risks, benefits, and limitations of genetic testing can be addressed. Each individual will then have the ability to make an informed decision whether to utilize this testing. Cancer Genetics Network Educational Tools: Development of an InternetBased Resource for Health Professionals A. Buchanan, S. Clark, C. S. Skinner, W. Sarratt, C. McLamb, and B. DeVellis Duke Comprehensive Cancer Center, Durham As Genetic Counselors continue to move into nontraditional roles such as research coordinators and project managers within multidisciplinary teams, counselors are being called upon to act as planners and coordinators of educational, outreach, and research-based symposia. Though invaluable in planning programs about cancer, pediatric and prenatal genetics, counselors rarely receive practical and specific training in program development. The website Planning Educational


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Programs (http://cancer.duke.edu/CGN/Planning/) was developed to aid genetic counselors and other health professionals in planning, implementing, and evaluating health-related educational programs. In addition to substantive issues associated with topics and materials, the website has information about logistical issues, for example, arranging for continuing education credits and financial support. This Internet-based resource is one function of the Carolina Georgia Center of the Cancer Genetics Network (CGN)—a registry of cancer families funded by the National Cancer Institute. Planning Educational Programs is based on participant and planner evaluations of the Center’s first annual symposium—Cancer Genetics: Answers to Your Patients’ Questions. This primary care-focused symposium featured genetic counselors in various roles. Counselors were major symposium presenters, coordinated interactions and instructions for other speakers during the planning process, involved in symposium materials development and, after the symposium, assisted planning the website content, design, and evaluation. The Planning Educational Programs website provides recommendations on eight major topics: Agenda, Finances, Speakers, Recruitment, Continuing Medical Education, Educational Materials, Symposium Site, and Program Evaluation. Presentations (including one on genetic counselors’ roles on multidisciplinary clinical teams) from the cancer genetics symposium are used throughout the website to illustrate specific suggestions. Genetic counselors who seek to enhance program planning skills will find support and guidance in the experienced perspective of the CGN-sponsored Planning Educational Programs website. Perception of Burden for Genetic Disorders in the Chinese Population T. Chiu, D. H. K. Chui, and C. Shuman University of Toronto, Toronto, Canada Health services which address medical and emotional needs such as social work, psychology, and genetic counseling may be underused by the Chinese community due to issues such as privacy, protection of family, and avoidance of the stigma of illness. It was anticipated that the Chinese community would perceive a greater psychosocial burden for genetic conditions, because of issues unique to their cultural framework, when compared with a control population with a similar risk for the condition. A questionnaire was developed to ascertain the perception of burden for beta-thalassemia, a genetic disorder relevant to the Chinese community given the gene frequency in this population. Low scores for a set of questions pertaining to disclosure and help-seeking behaviors indicated a reluctance to seek help or to share information with others. Additional questions examined perception of burden for individuals in the hypothetical event of having a child with thalassemia, and were scored with a Likert-type scale. This survey was distributed to individuals of Chinese and Mediterranean descent to determine if there were differences between these two communities. As expected, the Chinese study population scored consistently lower than the Mediterranean study population for all the questions related to disclosure and help-seeking behavior, and higher on most of the questions regarding perception of burden related


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to having a child with thalassemia. Trends in the data indicate that the Chinese population may feel a greater sense of burden for genetic conditions such as thalassemia when compared to a control population; however, the majority of differences between the two groups were not statistically significant. Factors such as the scoring system design, sociodemographics of the study population, and use of hypothetical situations in ascertaining perception of burden may have confounded the attempt to draw clear conclusions. Additional research is indicated in order to improve access to and provision of genetic counseling for the Chinese community. Strong Market for Recent Graduates: Results of the Genetic Counseling Graduate Job Search Study∗ M. Dudek and P. Robbins-Furman University of Texas Health Science Center, Houston, Texas Concern has been raised in the genetic counseling community about job availability and opportunities for new graduates of genetic counseling training programs. To address these issues, we developed a questionnaire to evaluate the job search experiences of recent graduates. The questionnaire was mailed to 410 genetic counselors that graduated in 1997, 1998, or 1999. We had 206 questionnaires returned, with a response rate of 50%. Eighty-eight percent of the respondents are currently working as genetic counselors. Fifty-two percent reported that they had accepted a job prior to graduation. For respondents who were unemployed at the time of graduation, 70% accepted a job within three months of graduation and 88% were employed by six months. Specific job search strategies were also addressed in the questionnaire. Of respondents, 91% attended the NSGC AEC during their second year of graduate school. Of those attending the AEC, 66% distributed their resume at the meeting. Nine percent reported that they received a job offer as a direct result of networking at the annual meeting. Location was ranked as the most important factor when seeking employment, followed by specialty, salary, and job setting. Of respondents who had a geographic preference, 75% were able to obtain a job in their city of choice. Other responses indicated that networking was the most helpful job search strategy for new graduates, followed by the NSGC listserve and Perspectives In Genetic Counseling. Graduates were also asked about their preferred specialty, job setting, and success in finding an ideal job. These results indicate that new graduates are finding desirable jobs that fit their preferences. Suggestions for future graduates were solicited, as well as suggestions for the NSGC and genetic counseling training programs in assisting students in their job search. An Assessment of the Types of Educational Resources Available to Participants of Genetic Research Studies S. Estabrooks, E. Melvin, R. Hutchison, C. Wolpert, and M. Speer Duke University Medical Center, Durham, North Carolina ∗ This

project has been supported by the NSGC Membership Committee.


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With the completion of the Human Genome Project, the number of human gene mapping studies, particularly for common complex disorders, is escalating, implying a surge in the number of individuals enrolled in these studies. Previous studies, focused mostly on clinical research, have shown a reliance on the informed consent document to educate participants about the research, despite the fact that studies have shown this as a poor educational tool. We distributed a questionnaire at the 1999 NSGC AEC to determine the types of educational materials currently used by genetic counselors working on genetic research studies, as well as the perceived educational utility of these materials by individuals who refer patients to such studies. The total responses received were 113. Of the respondents, 30% ascertain individuals for gene identification research (74% of these ascertain for complex disorders). Of these counselors, 91% provide participants with at least one form of supplementary education, including informed consent documents (80%), brochures (56%), and educational videos (6%), confirming use of the informed consent document as the primary educational tool in the genetic research setting. As genetic counselors with an expertise in genetic education, we are poised to research and improve the education of research participants who may not be privy to extensive interactions with the study coordinator/genetic counselor. Therefore, the survey also attempted to establish which educational tools of a research study are important to genetic counselors who refer patients to such studies. Genetic counselors referring patients to genetic studies indicated willingness to pass on not only informed consent documents (90%), but also brochures (96%), study newsletters (87%), and educational videos (49%). Also interesting is the fact that though most counselors use study materials to educate their patients (95%), they also use them to better their own understanding of the study (83%), providing yet another use for such resources. Further research is needed to determine and develop the best educational tools for the participants. Working with Members of the Adoption Triad S. K. Florance, H. M. Saal, J. Zins, and N. S. Warren University of Cincinnati, Cincinnati, Ohio Members of the adoption triad—adoptive parents, birthparents, and adoptees—are clients who have unique needs in genetics. An initial step towards enhancing genetic services for members of the adoption triad is to assess their expectations of health care professionals. This descriptive study utilized a mail survey created with input from both genetics and adoption professionals. The three-part survey tool was designed to elicit perceptions of genetics and suggestions for health care professionals. Participants were 151 adoptive parents, birthparents or adoptees over the age of 18 years who were ascertained through convenience sampling of nine local adoption agencies and support groups. Participants indicated a high degree of concern about the implications of prenatal exposures, positive family histories, and genetic conditions. Dissatisfaction with the amount of information shared during the adoption process was also high. Of the participants, 87% indicated that they would consult a genetics professional if they had a question about a genetic condition. Responses to the open-ended question “What do you


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think health professionals should know about adoption?” followed these themes: (1) understand adoption basics; (2) respect adoption; (3) use positive adoption language; (4) avoid assumptions about adoption; (5) question carefully; and (6) be familiar with adoption resources. We recommend that genetic counselors incorporate these suggestions into their clinical practice to increase client satisfaction. The guidelines could also be used to improve services to this population through community outreach and education. Awareness and Understanding of Genetics and Counseling Issues Within the High School Population D. Grant, R. Zinberg, and L. Sherman Mount Sinai Medical Center, New York, New York Previous studies have shown that many patients who meet with genetic counselors lack information and find the most basic genetics difficult to understand. Patients are forced to make decisions while dealing with new issues and ideas, many times in high-pressured situations. Instilling genetic counseling concepts outside the immediate setting of the counselor/patient relationship might enhance accurate decision making in clinical settings by improving and correcting the layperson’s prior beliefs and misconceptions. An ideal time for exposure to the basics of genetics is during one’s secondary education. The conclusion of high school is an entry into the realities of life, decision making, and an end of controlled education. An exploratory study of high school juniors and seniors in the public school system of New York City was conducted to evaluate these students for their knowledge and retention of genetics covered in the high school biology curriculum. The specific areas being assessed in this study include topics such as understanding of basic principles of genetics, lay beliefs about patterns of inheritance, knowledge of the availability of genetic technology, and psychological implications of different genetics issues through multiple choice, true false, and attitudinal questions. Three out of ten schools have completed the study, with a sample of 90 individuals, of which 73 answered the questionnaire completely. The majority of students were aware of basic terminology such as “DNA” and “chromosomes,” with a range of 78–94.5% correct responses. However, there was a lack of proper understanding of various inheritance patterns (5% of respondents accurately defined the term “Dominant,” 6.8% “Recessive,” and 12.3% “X-linked”). Most students (87.5%) indicated a great interest in learning more about genetics. Additional results have already been gained and will be expanded upon through further recruitment. Evaluating the level of understanding of these young adults will determine the need for implementing programs that may enhance future decision-making abilities. Genetic Counseling for Occupational Hazards G. Hepler, C. Rice, R. Hopkin, K. Huelsman, and N. Warren University of Cincinnati, Cincinnati, Ohio Each year, an estimated 20 million workers in the US are exposed to occupational hazards; 4% of cancer-related deaths are linked to occupational exposure.


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Individuals in the workplace are not the only family members at risk, if a spouse or parent carries home toxic residue on their clothing, skin, or vehicle. Workplace hazards include chemicals, noise, heat, and vibration. These hazards can result in infertility, miscarriages, birth defects, and cancer in exposed individuals or their offspring. Genetic counselors (GCs) commonly counsel individuals having such outcomes. This study assessed if GCs collect occupational histories, and how this information is used in risk assessment and counseling. A questionnaire was mailed to 300 randomly chosen GCs. Currently, 44% (131) have returned the anonymous questionnaire; respondents represent a cross section of genetic counseling practice. Overall, 49% indicated they always ask about client’s current occupation, whereas 35% rarely or never do. Respondents rarely or never ask about current occupation of client’s partner (51%), previous occupations of client (95%) or client’s partner (98%). Although 59% ask about exposure to chemicals when exploring occupational roles, less than 10% ask about other types of workplace hazards such as noise, stress, or physical exertion. If a possible occupational risk is identified, 88% report always documenting this information and 52% report always discussing the exposure. Some (75%) report being asked about occupational hazards on a regular basis. Most use Medline (79%), Reprotox (78%), and Brigg’s, Drugs in Pregnancy and Lactation (72%) to research exposures. Although 69% did feel adequately trained to identify potential risks to a fetus, 65% felt they were not adequately trained to identify occupational risks. Of the respondents, 71% think GCs should be trained to address occupational risks with their clients, and 96% indicated they would like to learn more about occupational hazards through a website, shortcourse, or manual. Education in this area is warranted as research in gene–environment interactions may foster future counseling demands regarding genetic susceptibility to environmental influences. The Genetic Services Needs of Consumers Within Managed Care N. Isaac, N. Wilker, B. Little, C. Holmes, N. Hanson, A. Smith, and M. Davidson Genetic Alliance, Inc., Washington, D.C. The Partnership Pilot Program is working with two managed care sites in the Pacific Northwest to enhance existing genetic services. Baseline surveys with consumers from both sites support the “Consumer Indicators of Quality Genetic Services” published by the Partnership in 1999. This publication resulted from focus group discussions and consumer surveys conducted between 1997 and 1999. The Consumer Indicators identify what consumers value in quality genetic services and establish a measurable set of priorities that can translate into decision making within healthcare delivery systems. Fifty-nine consumers, 39 at one site and 20 at the other, were surveyed through an open-ended, IRB approved, telephone interview. The interviews elicited an understanding of consumer experiences with genetic services and identified the most helpful condition-specific resources. Although over half (54%) of the interviewees accessed genetic services through their primary care providers, 24% of referrals stemmed from consumer


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requests. Consumers responded that the most helpful aspects of genetic services were explanations and clarifications of genetic concepts, specific genetic information (e.g., risk assessment, prognosis, research), thorough and caring staff, family history information collection, and availability of trained genetics staff. The least helpful aspects of genetic services were lengthy appointment waiting times, poor provider–patient interactions, and inadequate information provision. The most useful resources for consumers included written materials, the availability of an experienced genetic professional or primary care provider to answer questions, follow up letters from genetic professionals, condition-specific organizations, and parent networks. Some consumers indicated that they provide their physicians or care teams with articles, information from the Internet, and/or information from condition-specific organizations. Consumer responses confirmed 7/12 published Consumer Indicators. The Partnership has developed CME sessions at the pilot sites that incorporate consumer presentations along with provider presentations, coordinated with the on-site genetics providers, on specific genetic conditions. Consumers focus on their navigation through genetic services and how a specific genetic diagnosis has impacted their lives, whereas genetic providers focus on clinical information about the condition(s). Assessing Genetic Counselors’ Knowledge and Position on Professional Licensure K. Jochmann, B. Lerner, P. Reilly, and B. Rosen Brandeis University, Waltham, Massachusetts Whether or not genetic counselors should be licensed healthcare professionals is a timely and somewhat contested issue. California is the only state to have successfully lobbied for professional licensure and although licensure there seems imminent, it has not yet been put into effect. In order for other states to determine whether it is reasonable to pursue licensure and for the National Society of Genetic Counselors (NSGC) to make a general position statement, a great deal of data is still needed. This study seeks to gauge the position and knowledge base of genetic counselors regarding professional licensure related issues. Specifically, this study investigates genetic counselors’ positions on professional licensure, perceived differences between licensure and certification, perceived advantages and disadvantages of licensure, and willingness to join in licensure attempts. In addition, current billing practices are assessed. Results show that genetic counselors overwhelmingly support the movement to obtain professional licensure (78%) and that they principally see it as a vehicle through which they can obtain the authority to bill for their services and be reimbursed. Despite the unproven connection between licensure and reimbursement, a majority of respondents believe that licensure will positively impact on reimbursement capabilities (88%). Results also indicate that although a majority of genetic counselors support the effort to obtain licensure, a significant percentage do not fully understand the differences between licensure and certification and the advantages and disadvantages of each. Results from this study should be used to educate the professionals


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in the field and to stimulate discussion on the direction of future attempts at licensure. Counseling Across the Lifecycle for Ehlers–Danlos Syndrome L. Jay, J. Farmer, and W. Afifi Beaver College, Glenside, Pennsylvania The present study examined the role of a genetic counselor in the care of individuals with Ehlers–Danlos syndrome (EDS) through the lifecycle. EDS is a collection of disorders that involve the skin, connective tissue, joints, and blood vessels affecting children and adults. The purpose of the study was to determine what components of a genetic counseling session are significant predictors of satisfaction in counseling. A survey was designed to assess content covered in past genetic counseling sessions and to rate overall level of satisfaction with the counseling experience. Additionally, participants were asked to describe their ideal genetic counseling session, and individuals were asked to rate several issues and topics relevant to living with EDS. Participants were recruited from the 1999 Ehlers–Danlos National Foundation Annual Conference. Seventy-six individuals with EDS completed the survey. Regression analysis was used to analyze the relationship between satisfaction and components of genetic counseling sessions. Significant predictors of satisfaction with genetic counseling include discussion of support groups, discussion of other effects of illness on the family, and provision of information for support resources. Eighty-five percent of participants reported an interest in meeting with a genetic counselor on a regular basis. Findings shed light on how genetic counselors can conduct their sessions incorporating a lifecycle perspective. The results of the study are especially salient for genetic counselors working in long-term care situations, such as specialty clinics in pediatric and adult settings where more emphasis can be placed on psychosocial issues involving the family and support. The Emotions Genetic Counselors Experience in Delivering Bad News J. L. Kaufman, A. Kennedy, K. Spitzer Kim, and D. Wertz Brandeis University, Waltham, Massachusetts Although there is a wealth of information on the most effective ways for health care providers to give bad news to their patients, little research has been conducted on the emotional effects of being the messenger. The purpose of this study was to (1) determine what genetic counselors define as “bad news,” (2) record the emotions genetic counselors experience pre-, during, and post-delivery of bad news, (3) document the resources genetic counselors use to deal with their emotions and their level of satisfaction, and (4) make recommendations for additional resources. Surveys were mailed to 500 full members of the NSGC. Only surveys completed by those who were currently clinical genetic counselors were analyzed. The response rate was 160/500 (32%), but 30 were ineligible to participate. Respondents reported a variety of “bad news” experiences with a general theme of


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increased risk of morbidity and/or mortality. A wide range of emotions were reported throughout the bad news delivery process, with feelings of sadness being listed most often followed by feelings of fear. Significant ( p < 0.05) trends were found associating increased reporting of sadness with older genetic counselors and those who delivered bad news more frequently. Additional significant ( p < 0.05) trends were found associating increased reporting of fear with younger and less experienced genetic counselors. Respondents reported utilizing a variety of coping methods to deal with their emotions with the most popular response (91%) being “discussing with colleagues at work.” Although 75% of respondents felt that their coping methods were “very” or “extremely helpful,” a need for support groups for genetic counselors and formal time to discuss cases at work was expressed. Current Donor Screening Practices Among U.S. Sperm Banks K. Kitson and M. Barth Northwestern University, Chicago, Illinois The intent of this study was to assess the current status of sperm banks to evaluate screening practices with regard to the need for mandatory national standards, and to determine if advancements in micromanipulation techniques have had an effect on the number of facilities banking sperm. Sperm banks listed in the 1999 Official Confidential Directory were asked to participate in a telephone survey. Of 117 banks, 61 agreed to participate. Data is derived from the 32 banks currently accepting donors and offering sperm for donor insemination. The study evaluated the percentage of banks that require carrier screening of donors for cystic fibrosis, sickle cell disease, Tay-Sachs disease, canavan disease, and thalassemia. There was considerable variability in the use of well-established screening tests for these disorders. Thirty-one percent screen all donors for cystic fibrosis, where carrier detection rates can range from 30% in Asians to 97% in Ashkenazi Jews. Given this range in detection and the difficulties genetic counselors with expertise in carrier screening already report, this raises several questions including the efficacy of screening all donors, whether banks understand and are communicating the screening nature of these tests, and whether donors are told of their results and the limitations of screening. Only 22% of banks routinely screen Ashkenazi Jews for canavan disease despite a recent American College of Obstetrics and Gynecology (ACOG) statement recommending screening this population. Despite the apparent need, genetic counselors were on staff at only 12.5% of surveyed banks. While there is a trend for smaller banks to close, it appears to be due to stringent screening recommendations rather than advances in micromanipulation. Most larger banks seem to be following the recommendations of the American Society of Reproductive Medicine (ASRM); however, there is clearly variability in the screening offered from bank to bank. As the need for donor sperm continues and the Human Genome Project makes more tests available, greater input from genetic counselors is needed to facilitate a more consistent and widespread use of standard testing.


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The Importance of Minorities in the Genetic Counseling Field S. MacKay Sarah Lawrence College, Bronxville, New York The issue of minority representation is a concern in the relatively new profession of genetic counseling. In genetic counseling, “minority” includes nonWhite individuals, males and individuals with disability. This study surveyed students from all North American genetic counseling master’s programs to determine their demographics and the factors which played important roles in career choice. Among respondents, 16.7% were non-White, 1.8% were male, and 1.9% were disabled. The majority of students, 57.8%, learned about genetic counseling in their undergraduate years. The Internet and practicing genetic counselors appear to be the most important source of career information. The Internet was considered the most accessible for 53.2% of students and the best location for career information for 56.9% of students. The most useful information that 51.4% of students actually received came from genetic counselors. Close to 50% of students found it difficult or very difficult to finance their education. This study shows that minorities are underrepresented in genetic counseling and suggests that the Internet, genetic counselors, and undergraduate or high school classes would be resources for strategic recruitment efforts, and that financial aid programs should be examined. Recruitment efforts in other health professions are discussed as models. How do Obstetric Providers Discuss Referrals for Prenatal Genetic Counseling? C. Mastromarino, B. Bernhardt, and G. Geller The Johns Hopkins University, Baltimore, Maryland Physicians and other health care providers serve as gatekeepers for referral of the majority of genetic counseling clients. Yet little research has been done on the circumstances under which patients are referred or what patients are told about genetic counseling by referring providers. Discussion at the time of referral will affect client’s expectations of genetic counseling. This study utilized secondary data to examine referrals made for prenatal genetic counseling. Audiotapes and transcripts were available from the first prenatal visits of 104 pregnant patients with 45 providers (24 obstetricians and 21 certified nurse–midwives). Seventy-two visits were with actual patients and 32 were with a simulated patient; all patients had at least one indication for referral for genetic counseling, and the simulated patient had multiple indications. Transcript analysis documented the circumstances under which patients do and do not get referred and the content of the discussion about genetic counseling. Also, interviews with 23 of these obstetric providers were analyzed to help interpret what was observed in prenatal visits. We found that only 10% of visits with actual patients included a referral to a genetic counselor, compared to 78% with the simulated patient. Although 26% of visits with actual patients included some description of genetic counseling, 78% of visits with the simulated patient did. The most common descriptions were that genetic counseling was separate from testing, and counselors would give patients risks, statistics, and


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information; however, facilitating decision making and addressing psychosocial concerns were rarely mentioned. Data from interviews with providers revealed that they refer less than they say they do, but that their perceptions of genetic counseling generally match how they discuss the service with patients. This study shows that the majority of pregnant women with an indication for referral to a genetic counselor are not referred. In addition, obstetric providers’ inadequate descriptions of prenatal genetic counseling may leave women poorly prepared for genetic counseling sessions. These data lead to specific recommendations for referring patients for prenatal genetic counseling. Carrier Testing: When to Tell and Test? A. McConkie-Rosell, G. A. Spiridigliozzi, J. A. Sullivan, D. V. Dawson, and A. M. Lachiewicz Duke University, Durham, North Carolina In this longitudinal study of women at 50% risk for inheriting fragile X mutation we explored perceptions about the carrier-testing process, effect on selfconcept, and attitudes about age to learn at-risk (tell) and actual carrier status (test). We report here data about when to tell and test. Fourty-two women [20 carriers/ 22 noncarriers] completed a structured interview at 2 times, prior to carrier testing (T1) and 6.6 ms (SD 34 days) after learning their result (T2). Participants were asked about optimal age to learn at-risk and actual carrier status for themselves and their children. The reported ages fell into 4 distinct categories: child (0–9 years), preteen (10–13 years); teen (14–17 years); and adult (>18 years). The majority favored learning at-risk status and actual carrier status 3 hr). During the 1960s, a genetic outreach program was established to meet the needs of rural communities. Recently, revisions to the Northern Alberta Community Genetics Program (NACG) were undertaken given the rapid changing knowledge and technology in genetics as well as changes to the delivery of healthcare in Alberta. There


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are 15 community genetic nurses (CGN), with experience levels of 5 months to 18 years, employed to represent the EGC in rural areas. EGC is responsible for ensuring that the CGNs are appropriately skilled and competent to provide genetic services. Therefore, a three-day training inservice was conducted for the CGNs. A 50-point multiple-choice examination was used to assess knowledge level, the effectiveness of the inservice and to determine future educational needs. Lectures, interactive presentations, and role-playing were used for educational sessions. Training and examination topics included referral criteria, pedigree assessment, prenatal genetics, cytogenetics, molecular genetics, cancer genetics, and genetic counseling. The examination was given at baseline, following the inservice, and 5 months post-inservice. Overall CGN knowledge increased significantly from baseline to post-inservice ( p < .001) and remained increased over time ( p = .01). There was a decrease in scores from exam 2 to exam 3, however this was not statistically significant ( p = .19). The mean and range of scores for exam 1, 2, and, 3 were 29.7 (20–39), 35.5 (23.5–42.5), and 33.6 (25–40) respectively. The CGNs scored similarly well in all subject areas, scoring highest in referral criteria (68.7%) and lowest in genetic counseling (61.5%). The inservice was an effective way to increase knowledge and the knowledge was maintained over time. By incorporating an evaluation component into the NACG, we are able to target our efforts for future inservices.

Abstracts from the Twentieth Annual Education Conference of the National Society of Genetic Counselors (Washington, DC, November 2001).

Abstracts from the Twenty-First Annual Education Conference of the National Society of Genetic Counselors (Phoenix, Arizona, November 2002).

Abstracts from the Seventeenth Annual Education Conference of the National Society of Genetic Counselors (Denver, Colorado, October 1998).

Abstracts from the Twenty-Second Annual Education Conference of the National Society of Genetic Counselors (Charlotte, NC, September 2003).

Abstracts of papers and posters presented at the Fifteenth Annual Education Conference of the National Society of Genetic Counselors.

An Oral History of the National Society of Genetic Counselors.

Abstracts of the Caribbean Urological Association 16th Annual Conference, November 7-8, 2014, Montego Bay, Jamaica.

The American Society for Cell Biology 32nd annual meeting. November 15-19, 1992, Denver, Colorado. Abstracts.

Abstracts of the 54th Annual Conference of the Indian Society of Gastroenterology in association with the Indian National Association for Study of the Liver and the Society of Gastrointestinal Endoscopy of India. November 28-December 1, 2013. Gujarat, India.

Abstracts of the RCOG National Trainees Conference (NTC) 2014, 27-28 November 2014, Manchester, United Kingdom.

Abstracts of papers presented at the Thirteenth Annual Education Conference : 25 years of genetic counseling Expanding roles, extending horizons.

Abstracts of the British Psychosocial Oncology Society, 2015 Annual Conference, 19 - 20 March 2015, England, UK.

Abstracts of the British Psychosocial Oncology Society, 2014 Annual Conference, 27 - 28 February 2014, Preston, UK.

Abstracts of the 48th Annual Scientific Meeting of the Vascular Society of Great Britain and Ireland, 27–29 November 2013.

Abstracts of papers presented at the Fourteenth Annual Education Conference : Conditions that affect adults.

Abstracts of the 41st Annual Meeting of the Austrian Diabetes Society. November 21-23, 2013. Salzburg, Austria.

Abstracts of the 2013 Annual Scientific Meeting of the Irish Thoracic Society (ITS). November 15-16, 2013. Derry, Ireland.

Pancreatic Society of Great Britain and Ireland. 14th annual meeting. 17 November 1989. Abstracts.

Abstracts of the 49th Annual Scientific Meeting of the Vascular Society of Great Britain and Ireland, November 26-28, 2015.

The College of Podiatry Annual Conference 2014: meeting abstracts.

Abstracts of the 16th Annual Meeting of the Israel Society for Neuroscience, November 25-27, 2007, Eilat, Israel.

Biophysical Society. Program and abstracts. Twenty-third annual meeting, February 26-28, 1979, Atlanta, Georgia.

The college of podiatry annual conference 2013: meeting abstracts.

Abstracts of the British Society of Breast Radiology Annual Scientific Meeting, 10-12 November, 2013, Liverpool, UK.