http://informahealthcare.com/jmf ISSN: 1476-7058 (print), 1476-4954 (electronic) J Matern Fetal Neonatal Med, 2015; 28(3): 344–349 ! 2014 Informa UK Ltd. DOI: 10.3109/14767058.2014.916681
ORIGINAL ARTICLE
Relevance of labor room fetal autopsy in increasing its acceptance Manisha Kumar1, Abha Singh1, Usha Gupta1, Rama Anand2, and Seema Thakur3 Department of Obstetrics & Gynaecology and 2Department of Radiology, Lady Hardinge Medical College, New Delhi, India, and 3Department of Genetics, Fortis La Femme, GK II, New Delhi, India
J Matern Fetal Neonatal Med Downloaded from informahealthcare.com by Nyu Medical Center on 04/19/15 For personal use only.
1
Abstract
Keywords
Background: Fetal autopsy is included in the basic protocol of investigating a perinatal death, parental refusal is the main reason for its low rate. Aim: To increase acceptance of fetal autopsy and to provide better counselling to the couple regarding risk of recurrence in future pregnancies. Materials and methods: All cases with antenatally diagnosed congenital anomaly resulting in stillbirth or termination before 20 weeks were offered fetal autopsy and it was performed in labor room itself by the fetal medicine specialist after consents. External and internal examination, photograph, infantogram and karyotyping were done, and relevant tissue was sent for histopathology. Correlation between the ultrasound and autopsy finding was done. Results: Total 674 cases of antenatally detected major congenital anomaly were included in the study. Out of 403 cases of stillbirth and abortion, consent for autopsy was given in 312. Most common defect was cranio-vertebral defect followed by genitourinary anomaly. The autopsy finding correlated with USG findings fully in 63.5% cases, there were additional findings altering diagnosis in 24.7% cases, the diagnosis completely changed in 11.8% cases. Conclusion: Autopsy if done in labor room increases its acceptance by the couple. Additional findings on autopsy helped in reaching at diagnosis and counseling accordingly.
Congenital anomaly, fetal autopsy, prenatal diagnosis
Introduction A fetal loss at whatever gestation is a matter of grief and concern to the family. The information regarding the prognosis of an anomaly can be gained by doing an ultrasound but this knowledge may not be enough for counseling regarding future risk. When anomaly is detected during the antenatal scan, besides prognosis the chance of recurrence is also a matter of concern to the couple. Fetal autopsy is included in the basic protocol of investigation in case of perinatal death even when the cause is obvious [1]. Fetal autopsy is found to add to the diagnosis in 30–50% cases and thus aid in counseling regarding risk of recurrence in future [1,2]. Co-ordinated efforts of obstetrician, pediatrician and pathologist are required while investigating a perinatal death. The uptake of fetal autopsy in India is low because the attending physicians, obstetricians and pediatricians are not ambivalent about the value of necropsy. Parent’s refusal to allow the investigation is the main reason for low rate, but the failure of clinicians to request necropsy – is also common [3]. If the couple is advised regarding need for examination of fetus after a still birth, the request is declined quite often as there is grief and bereavement. Even if they agree for autopsy Address for correspondence: Dr Manisha Kumar, Associate Professor, Department of Obstetrics and Gynaecology, Lady Hardinge Medical College, Bhagat Singh Marg, New Delhi 110001, India. Tel: 91-09818014887. E-mail: [email protected]
History Received 12 January 2014 Revised 13 April 2014 Accepted 16 April 2014 Published online 27 May 2014
due to their religious beliefs and cultural practices they would want the baby back for the last respect; therefore, allowing the baby to be taken to a pathologist is quite often declined. If the fetal medicine specialist performs the antenatal ultrasound, counsels the couple regarding need for examination after delivery, consent is readily given by the parents. If the autopsy is performed in labor room by the same fetal medicine team, better correlation between ultrasound (USG) and post-natal examination findings is observed, thus increasing the likelihood of reaching at a diagnosis. The objective of our study was to perform autopsy in labor room itself and send the relevant tissue for histopathological examination so that acceptance of autopsy is increased. The outcome was to provide better counseling to the couple regarding risk of recurrence in future pregnancies.
Materials and methods It was a prospective study. All patients with prenatally detected major congenital malformation who underwent delivery at our hospital for a 4-year study period (Oct 2009–Sept 2013) were included. The Modified Kuppuswamy scale was used for assessing the socioeconomic status (SES) of the family [4]. All women with congenital anomaly diagnosed in pregnancy had detailed fetal scan done by the fetal medicine team. Appropriate referral and subsequent counseling was done. After investigations and counseling,
Fetal autopsy in labor room
J Matern Fetal Neonatal Med Downloaded from informahealthcare.com by Nyu Medical Center on 04/19/15 For personal use only.
DOI: 10.3109/14767058.2014.916681
termination of pregnancy was advised in cases with gestation less than 20 weeks. Those who came after 20 weeks were followed with USG at regular intervals till delivery. In case of stillbirth, couple was counseled regarding the need for fetal examination and investigation, it was performed if consent was given. Fetal autopsy was done according to the routinely followed protocol. All post-mortem examinations were carried out with written consent. The body was kept in formalin if delay was more than few hours. The autopsy was done in labor room itself by the fetal medicine team; the ultrasound and clinical details were already with the fetal medicine specialist, photograph, X-ray of fetus (AP and lateral) were taken; external measurements (external malformations, crown rump length, head circumference, femur length) were done. Internal examination was done, presence of all organs or any internal malformations were noted, weight of important organs was taken. All measurements and weights were compared with a nomogram. The relevant tissue was sent for histopathological examination. Cord blood collected in a heparinized tube was sent for karyotyping. After autopsy, counseling regarding probable diagnosis and advice regarding need for re-evaluation after investigations was given, subsequently baby was handed over to the relatives. The couple was called after 2–3 weeks for re-counselling. The findings at autopsy were correlated with ultrasound findings, note was taken of any additional finding whether present or not, whether the diagnosis remained the same or changed after autopsy.
Results In the four-year study period, 674 women with major fetal anomaly were booked and delivered at our institution. The epidemiological profile of women is shown in Table 1. Most women were in the age group of 23–26 years and were primiparous. Only 93 women came before 20 weeks of gestation, most of them presented between 30 and 34 weeks, as termination of pregnancy was not possible after 20 weeks most of them delivered at spontaneous onset of labor after 36 weeks. Figure 1 provides an overview of management after prenatal diagnosis of congenital anomalies, all patients who presented before 20 weeks (93 cases) were counseled regarding prognosis, and termination of pregnancy was advised in all except one case with bilateral tallipes equino varus with normal karyotype. One patient with spina bifida in fetus, wanted to continue pregnancy, termination of pregnancy was done in 91 cases. In patients who presented after 20 weeks of gestation (581 cases), pregnancy was continued till intrauterine death ensued or there was spontaneous onset of labor. In 268 cases, there was live birth and 313 were stillborn. Autopsy was done in 312 (77.2%) cases. There was a full agreement between ultrasound and autopsy finding in 198 (63.5%), there were added findings but the diagnosis remained the same in 77 (24.7%) and added finding changed the diagnosis completely in 37 (11.9%) cases. Karyotyping was done in 84 cases, chromosomal anomalies present in 14 (16.7%) cases. Trisomy 21 and monosomy X were the most common chromosomal anomaly, seen in four cases each, trisomy 13 in three, trisomy
345
Table 1. Epidemiological characteristics of study group.
Antenatal characteristics Gestational age 18–22 23–26 27–30 31–34 35 Parity 0 1 2 3 4 Previous Still birth/Death after birth 0 1 2 3 Singletons Twins Gestation at presentation 20 weeks 21–25 26–30 31–35 36–40 Gestation at delivery 20 weeks 21–25 26–30 31–35 36–40 Socio-economic status Lower Middle Higher
Pregnancy with fetal anomaly (674)
%
187 284 141 38 24
27.7 42.1 20.9 5.7 2.4
402 156 83 24 9
59.6 23.1 12.3 3.6 1.4
567 56 34 17 660 14
84.1 8.3 5.1 2.5 97.9 2.1
93 101 173 157 150
13.8 15.0 25.7 23.3 22.2
92 63 80 98 341
13.6 9.3 11.9 14.5 50.6
445 213 16
66.0 31.6 2.4
18 in one and autosomal unbalanced translocation was found in two cases. Among stillborn/abortions multiple defects were found in 187 cases (46.3%). The system wise distribution of stillbirth and autopsy findings is shown in Table 2. Cranio-vertebral defects (298 cases) were most common. Many of them (197 cases) were either stillbirth or abortion, autopsy was done in 81.2% cases, but in only 23 cases (14.4%) findings added to diagnosis, there was change in diagnosis in five cases (3.8%). Autopsy of brain was not possible without fixation of brain tissue, important findings such as any other associated abnormality, chromosomal abnormality if found helped in reaching at diagnosis. For example, in a case with holoprosencephaly with diaphragmatic hernia and polydactyly, Trisomy 13 was found on karyotyping. The urogenital defects were second most commonly seen, stillbirth occurred in nearly half of them, there was added finding in almost 50% of cases in which autopsy was performed, histopathology was possible in all cases where autopsy was done. In one case with uro-rectal septal defect there was atresia of distal portion of vagina and urethra with communication between proximal urethra and vagina causing urine to flow from urethra to vagina and retrograde to uterus and tubes causing urinary ascites. In cardiothoracic defects, stillbirth occurred in nearly half of those enrolled in the study;
346
M. Kumar et al.
J Matern Fetal Neonatal Med, 2015; 28(3): 344–349
Figure 1. Flow diagram of congenital anomaly cases and their subsequent management.
Total congenital anomaly – 674
>20 weeks – 581
ORIGINAL ARTICLE
Relevance of labor room fetal autopsy in increasing its acceptance Manisha Kumar1, Abha Singh1, Usha Gupta1, Rama Anand2, and Seema Thakur3 Department of Obstetrics & Gynaecology and 2Department of Radiology, Lady Hardinge Medical College, New Delhi, India, and 3Department of Genetics, Fortis La Femme, GK II, New Delhi, India
J Matern Fetal Neonatal Med Downloaded from informahealthcare.com by Nyu Medical Center on 04/19/15 For personal use only.
1
Abstract
Keywords
Background: Fetal autopsy is included in the basic protocol of investigating a perinatal death, parental refusal is the main reason for its low rate. Aim: To increase acceptance of fetal autopsy and to provide better counselling to the couple regarding risk of recurrence in future pregnancies. Materials and methods: All cases with antenatally diagnosed congenital anomaly resulting in stillbirth or termination before 20 weeks were offered fetal autopsy and it was performed in labor room itself by the fetal medicine specialist after consents. External and internal examination, photograph, infantogram and karyotyping were done, and relevant tissue was sent for histopathology. Correlation between the ultrasound and autopsy finding was done. Results: Total 674 cases of antenatally detected major congenital anomaly were included in the study. Out of 403 cases of stillbirth and abortion, consent for autopsy was given in 312. Most common defect was cranio-vertebral defect followed by genitourinary anomaly. The autopsy finding correlated with USG findings fully in 63.5% cases, there were additional findings altering diagnosis in 24.7% cases, the diagnosis completely changed in 11.8% cases. Conclusion: Autopsy if done in labor room increases its acceptance by the couple. Additional findings on autopsy helped in reaching at diagnosis and counseling accordingly.
Congenital anomaly, fetal autopsy, prenatal diagnosis
Introduction A fetal loss at whatever gestation is a matter of grief and concern to the family. The information regarding the prognosis of an anomaly can be gained by doing an ultrasound but this knowledge may not be enough for counseling regarding future risk. When anomaly is detected during the antenatal scan, besides prognosis the chance of recurrence is also a matter of concern to the couple. Fetal autopsy is included in the basic protocol of investigation in case of perinatal death even when the cause is obvious [1]. Fetal autopsy is found to add to the diagnosis in 30–50% cases and thus aid in counseling regarding risk of recurrence in future [1,2]. Co-ordinated efforts of obstetrician, pediatrician and pathologist are required while investigating a perinatal death. The uptake of fetal autopsy in India is low because the attending physicians, obstetricians and pediatricians are not ambivalent about the value of necropsy. Parent’s refusal to allow the investigation is the main reason for low rate, but the failure of clinicians to request necropsy – is also common [3]. If the couple is advised regarding need for examination of fetus after a still birth, the request is declined quite often as there is grief and bereavement. Even if they agree for autopsy Address for correspondence: Dr Manisha Kumar, Associate Professor, Department of Obstetrics and Gynaecology, Lady Hardinge Medical College, Bhagat Singh Marg, New Delhi 110001, India. Tel: 91-09818014887. E-mail: [email protected]
History Received 12 January 2014 Revised 13 April 2014 Accepted 16 April 2014 Published online 27 May 2014
due to their religious beliefs and cultural practices they would want the baby back for the last respect; therefore, allowing the baby to be taken to a pathologist is quite often declined. If the fetal medicine specialist performs the antenatal ultrasound, counsels the couple regarding need for examination after delivery, consent is readily given by the parents. If the autopsy is performed in labor room by the same fetal medicine team, better correlation between ultrasound (USG) and post-natal examination findings is observed, thus increasing the likelihood of reaching at a diagnosis. The objective of our study was to perform autopsy in labor room itself and send the relevant tissue for histopathological examination so that acceptance of autopsy is increased. The outcome was to provide better counseling to the couple regarding risk of recurrence in future pregnancies.
Materials and methods It was a prospective study. All patients with prenatally detected major congenital malformation who underwent delivery at our hospital for a 4-year study period (Oct 2009–Sept 2013) were included. The Modified Kuppuswamy scale was used for assessing the socioeconomic status (SES) of the family [4]. All women with congenital anomaly diagnosed in pregnancy had detailed fetal scan done by the fetal medicine team. Appropriate referral and subsequent counseling was done. After investigations and counseling,
Fetal autopsy in labor room
J Matern Fetal Neonatal Med Downloaded from informahealthcare.com by Nyu Medical Center on 04/19/15 For personal use only.
DOI: 10.3109/14767058.2014.916681
termination of pregnancy was advised in cases with gestation less than 20 weeks. Those who came after 20 weeks were followed with USG at regular intervals till delivery. In case of stillbirth, couple was counseled regarding the need for fetal examination and investigation, it was performed if consent was given. Fetal autopsy was done according to the routinely followed protocol. All post-mortem examinations were carried out with written consent. The body was kept in formalin if delay was more than few hours. The autopsy was done in labor room itself by the fetal medicine team; the ultrasound and clinical details were already with the fetal medicine specialist, photograph, X-ray of fetus (AP and lateral) were taken; external measurements (external malformations, crown rump length, head circumference, femur length) were done. Internal examination was done, presence of all organs or any internal malformations were noted, weight of important organs was taken. All measurements and weights were compared with a nomogram. The relevant tissue was sent for histopathological examination. Cord blood collected in a heparinized tube was sent for karyotyping. After autopsy, counseling regarding probable diagnosis and advice regarding need for re-evaluation after investigations was given, subsequently baby was handed over to the relatives. The couple was called after 2–3 weeks for re-counselling. The findings at autopsy were correlated with ultrasound findings, note was taken of any additional finding whether present or not, whether the diagnosis remained the same or changed after autopsy.
Results In the four-year study period, 674 women with major fetal anomaly were booked and delivered at our institution. The epidemiological profile of women is shown in Table 1. Most women were in the age group of 23–26 years and were primiparous. Only 93 women came before 20 weeks of gestation, most of them presented between 30 and 34 weeks, as termination of pregnancy was not possible after 20 weeks most of them delivered at spontaneous onset of labor after 36 weeks. Figure 1 provides an overview of management after prenatal diagnosis of congenital anomalies, all patients who presented before 20 weeks (93 cases) were counseled regarding prognosis, and termination of pregnancy was advised in all except one case with bilateral tallipes equino varus with normal karyotype. One patient with spina bifida in fetus, wanted to continue pregnancy, termination of pregnancy was done in 91 cases. In patients who presented after 20 weeks of gestation (581 cases), pregnancy was continued till intrauterine death ensued or there was spontaneous onset of labor. In 268 cases, there was live birth and 313 were stillborn. Autopsy was done in 312 (77.2%) cases. There was a full agreement between ultrasound and autopsy finding in 198 (63.5%), there were added findings but the diagnosis remained the same in 77 (24.7%) and added finding changed the diagnosis completely in 37 (11.9%) cases. Karyotyping was done in 84 cases, chromosomal anomalies present in 14 (16.7%) cases. Trisomy 21 and monosomy X were the most common chromosomal anomaly, seen in four cases each, trisomy 13 in three, trisomy
345
Table 1. Epidemiological characteristics of study group.
Antenatal characteristics Gestational age 18–22 23–26 27–30 31–34 35 Parity 0 1 2 3 4 Previous Still birth/Death after birth 0 1 2 3 Singletons Twins Gestation at presentation 20 weeks 21–25 26–30 31–35 36–40 Gestation at delivery 20 weeks 21–25 26–30 31–35 36–40 Socio-economic status Lower Middle Higher
Pregnancy with fetal anomaly (674)
%
187 284 141 38 24
27.7 42.1 20.9 5.7 2.4
402 156 83 24 9
59.6 23.1 12.3 3.6 1.4
567 56 34 17 660 14
84.1 8.3 5.1 2.5 97.9 2.1
93 101 173 157 150
13.8 15.0 25.7 23.3 22.2
92 63 80 98 341
13.6 9.3 11.9 14.5 50.6
445 213 16
66.0 31.6 2.4
18 in one and autosomal unbalanced translocation was found in two cases. Among stillborn/abortions multiple defects were found in 187 cases (46.3%). The system wise distribution of stillbirth and autopsy findings is shown in Table 2. Cranio-vertebral defects (298 cases) were most common. Many of them (197 cases) were either stillbirth or abortion, autopsy was done in 81.2% cases, but in only 23 cases (14.4%) findings added to diagnosis, there was change in diagnosis in five cases (3.8%). Autopsy of brain was not possible without fixation of brain tissue, important findings such as any other associated abnormality, chromosomal abnormality if found helped in reaching at diagnosis. For example, in a case with holoprosencephaly with diaphragmatic hernia and polydactyly, Trisomy 13 was found on karyotyping. The urogenital defects were second most commonly seen, stillbirth occurred in nearly half of them, there was added finding in almost 50% of cases in which autopsy was performed, histopathology was possible in all cases where autopsy was done. In one case with uro-rectal septal defect there was atresia of distal portion of vagina and urethra with communication between proximal urethra and vagina causing urine to flow from urethra to vagina and retrograde to uterus and tubes causing urinary ascites. In cardiothoracic defects, stillbirth occurred in nearly half of those enrolled in the study;
346
M. Kumar et al.
J Matern Fetal Neonatal Med, 2015; 28(3): 344–349
Figure 1. Flow diagram of congenital anomaly cases and their subsequent management.
Total congenital anomaly – 674
>20 weeks – 581
