Abstract:
BACKGROUND: Congenital anomalies are one of the major causes of fetal loss and accounts for 8%-15% of perinatal deaths in India. Amongst these, 3% neonates suffer from major congenital malformations and 0.7% to 1% with multiple system congenital malformations. When a serious fetal anomaly is suspected in the scans , obstetrician may suggest termination of pregnancy in order to avoid the heavy emotional and socioeconomic burden on both the fetus and parents or in cases where it is implied that the anomaly is almost certainly lethal. Fetal autopsy defines the examination of external and internal body parts after the demise of a fetus due to an elective termination of pregnancy or congenital anomalies and is considered as gold standard to evaluate the efficiency of ultrasound findings, along with confirming these findings to arrive to an accurate diagnosis.
AIMS: To compare prenatal ultrasonographic findings with fetal autopsy and to study the role of fetal autopsy in making the diagnosis of various fetal anomalies in cases of spontaneous miscarriage and medically terminated fetuses for structural anomalies.
MATERIALS AND METHODS: Hospital-based cross-sectional study with sample size of 150 fetuses. The study was conducted from April 2023 to December 2024. For all cases, consent was taken from parents and standard autopsy protocol were followed and histopathological examination was done. Photodocumentation of internal and external anomalies for majority of cases was maintained.
RESULTS: A total of 150 fetuses were included. On comparing ultrasound reports and autopsy findings there was complete concordance in 54.6% cases (82/150), additional findings on autopsy in 39.4% cases (59/150) cases and could not confirm the ultrasound findings in 6% cases (09/150). The most common system involved was central nervous system comprising of 34 out of 150 cases (22.6%), followed by skeletal system with 16 cases (10.6%) and then cardiovascular system with 13 cases (8.6%). We also came across 23 syndromes, for which complete concordance between ultrasound and autopsy was seen in 04 cases out of 23 (17%), 07 cases out of 23 (31%) were suspected with syndrome on ultrasound and confirmed through autopsy with minor additional findings that did not lead to change in final diagnosis and 12 cases(52%) were classified into syndromes solely on the basis of autopsy.
CONCLUSION: Study confirms the need for fetal autopsy after fetal loss to identify and confirm the underlying cause, which further aids in genetic counselling of the couple. Fetal autopsy plays an important role in analysing the recurrence risk thus helping in better planning for future conception plans of the parents.