American Journal of Medical Genetics 40:129 (1991)
Letter to the Editor Low AFP and Congenital Diaphragmatic Defects To the Editor: In 1987 [Resta, et al., 19873, we reported a possible association between low maternal serum alpha-fetoprotein levels (MSAFP) and congenital diaphragmatic defects. Subsequently, Crossley et al. [19881 reported a larger series in which there appeared to be no association between low MSAFP and congenital diaphragmatic defects. Over the last 5 years, we have seen approximately 580 patients for amniocentesis for low MSAFP level. We recently came across a third case of congenital diaphragmatic hernia in this population. The patient was a 38-year-old gravida 1 Caucasian woman with a n unremarkable family or pregnancy history. Serum AFP at 16 weeks was 21.7 IU/ml(O.6 MOM). Ultrasound examination at 20 weeks showed a single fetus of appropriate gestational age with no apparent anomalies. Amniocentesis karyotype was 46,XX, and the amniotic fluid AFP level was 2.6 KIU/ml (0.46 MOM).The patient delivered a female infant a t term; she developed severe respiratory problems several minutes after birth. A large left diaphragmatic hernia was diagnosed, and the child died shortly after surgery. An autopsy was not performed. The data of Crossley et al. suggest that AFP is probably a n inefficient predictor of congenital diaphragmatic defects. However, the frequency of diaphragmatic hernia in our low AFP population is approximately 1/200, which is appreciable. Other centers have not reported this outcome. Because of the high mortality rate associated with congenital diaphragmatic defects, it is possible that routine follow-up by AFP programs may simply record the loss as a stillbirth.
Received for publication December 10, 1990.
0 1991 Wiley-Liss, Inc.
Because of the relative infrequency of diaphragmatic hernias, only a multi-institutional study can address the sensitivity of AFP to diaphragmatic defects. However, because of the poor prognosis for this disorder as well as for the potential hope offered by fetal surgery [Harrison e t al., 19901, detection of even a few cases in utero may have medical benefits. We suggest that AFP programs pay specific attention to diaphragmatic hernias in their follow-up to evaluate this finding.
REFERENCES Resta RG, Luthy DA, Karp LE, Hickok DE (1987): Low maternal serum alpha-fetoprotein levels and congenital diaphragmatic defects. Am J Med Genet 26:991-994. Crossley JA, Tolmie JL, Aitken DA, Easton S (1988): Congenital diaphragmatic defects and maternal serum alpha-fetoprotein. Am .I Med Genet 31:183-184. Harrison MR, Adzick NS, Longaker MT, Goldberg JD, et al. (1990): Successful repair in utero of a fetal diaphragmatic hernia after removal of herniated viscera from the left thorax. N Engl J Med 322:1583-1584.
Robert Resta Genetic Counseling Services David A. Luthy Division of Perinatal Medicine Swedish Hospital Medical Center Seattle, Washington
Letter to the Editor Low AFP and Congenital Diaphragmatic Defects To the Editor: In 1987 [Resta, et al., 19873, we reported a possible association between low maternal serum alpha-fetoprotein levels (MSAFP) and congenital diaphragmatic defects. Subsequently, Crossley et al. [19881 reported a larger series in which there appeared to be no association between low MSAFP and congenital diaphragmatic defects. Over the last 5 years, we have seen approximately 580 patients for amniocentesis for low MSAFP level. We recently came across a third case of congenital diaphragmatic hernia in this population. The patient was a 38-year-old gravida 1 Caucasian woman with a n unremarkable family or pregnancy history. Serum AFP at 16 weeks was 21.7 IU/ml(O.6 MOM). Ultrasound examination at 20 weeks showed a single fetus of appropriate gestational age with no apparent anomalies. Amniocentesis karyotype was 46,XX, and the amniotic fluid AFP level was 2.6 KIU/ml (0.46 MOM).The patient delivered a female infant a t term; she developed severe respiratory problems several minutes after birth. A large left diaphragmatic hernia was diagnosed, and the child died shortly after surgery. An autopsy was not performed. The data of Crossley et al. suggest that AFP is probably a n inefficient predictor of congenital diaphragmatic defects. However, the frequency of diaphragmatic hernia in our low AFP population is approximately 1/200, which is appreciable. Other centers have not reported this outcome. Because of the high mortality rate associated with congenital diaphragmatic defects, it is possible that routine follow-up by AFP programs may simply record the loss as a stillbirth.
Received for publication December 10, 1990.
0 1991 Wiley-Liss, Inc.
Because of the relative infrequency of diaphragmatic hernias, only a multi-institutional study can address the sensitivity of AFP to diaphragmatic defects. However, because of the poor prognosis for this disorder as well as for the potential hope offered by fetal surgery [Harrison e t al., 19901, detection of even a few cases in utero may have medical benefits. We suggest that AFP programs pay specific attention to diaphragmatic hernias in their follow-up to evaluate this finding.
REFERENCES Resta RG, Luthy DA, Karp LE, Hickok DE (1987): Low maternal serum alpha-fetoprotein levels and congenital diaphragmatic defects. Am J Med Genet 26:991-994. Crossley JA, Tolmie JL, Aitken DA, Easton S (1988): Congenital diaphragmatic defects and maternal serum alpha-fetoprotein. Am .I Med Genet 31:183-184. Harrison MR, Adzick NS, Longaker MT, Goldberg JD, et al. (1990): Successful repair in utero of a fetal diaphragmatic hernia after removal of herniated viscera from the left thorax. N Engl J Med 322:1583-1584.
Robert Resta Genetic Counseling Services David A. Luthy Division of Perinatal Medicine Swedish Hospital Medical Center Seattle, Washington
