Abstract

Congenital anomalies diagnosed on Ultrasound scan, autopsy plays a vital role in confirming the diagnosis and many times gives information regarding additional malformations. Autopsy on dead fetuses/infants helps the parents by giving information regarding the recurrence risk of fetal anomaly. This study confirms the utility of fetal autopsy in identifying the cause of fetal loss which will indicate the need in genetic counseling of the couple. Aim: The study is done to record the incidence of congenital malformations in Fetal Autopsy. Details are collected from the department of Obstetrics and Gynecology. Methodology: A total of 98 fetal autopsies were done in the department of Pathology in a tertiary care teaching hospital, South India from the period of June 2015 to May 2020. Results: In 98 autopsies performed, 90 were fetal deaths and 8 neonatal deaths. Out of 62 autopsies on male fetuses, 22 had congenital malformations and of 36 autopsies on female fetuses, 14 had congenital malformations. Congenital anomalies were commonest in the birth weight group of <1000 gms, accounting for 28 cases. Most of the fetal deaths occurred in mothers with age group of 21-30 accounting to 27 cases out of 72 autopsies. Incidence of congenital anomalies was highest in primigravida. Congenital malformations were seen in 36 cases which accounted for 36.7% of fetal and early neonatal deaths. Malformations of the central nervous system (33.3%) were the most common. Neural tube defects like anencephaly and spina bifida were seen in 8 cases. The second most common anomalies were encountered in Gastrointestinal system (19.4%), followed by genito-urinary system (13.8%) and cardiovascular system (8.3%). Tracheo esophageal fistula was the only case seen involving the respiratory system. Rare cases like Prune belly syndrome, Jarcho Levin syndrome were observed. Two cases of cystic hygroma and one case of Phocomelia with a history of Thalidomide intake by the mother were seen. Conclusion: Due to financial constraints only karyotyping was performed in the present study. Further studies including molecular biology should be carried out to identify more cases with congenital anomalies so that proper genetic counseling can be given to the parents to avoid subsequent anomalous births.

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