Role of Autopsy in Diagnosis and Genetic Counselling of Congenital Malformations: a Prospective Analytical Study

The objectives of the study were to correlate the findings of antenatal ultrasound with that of perinatal autopsy, to determine the contribution of autopsy in refining the antenatal diagnosis and whether it altered the genetic counseling. This was a prospective, non-interventional analytical study conducted in the Department of Obstetrics and Gynaecology, JIPMER with the approval of Institutional Ethics Committee. Fourty-six fetuses which were stillborn/aborted or expired in newborn period due to congenital malformations were included. The findings of antenatal ultrasound were correlated with postnatal autopsy findings. The genetic counselling based on antenatal findings were compared with that based on postnatal findings and any change in the counselling given were noted and analysed. More than 70% of anomalies among the 46 fetuses included in the study were detected by the mid trimester anomaly scan. Male predominance was seen in this  study (24 male fetuses). A definitive diagnosis or documentation of anomalies by autopsy was possible in all 46 fetuses (100%). Single system anomalies were noted in 24 (52.17%) fetuses and multisystem involvement was observed in 19 (41.3%) fetuses. Among fetuses with multiple malformation syndr ome, 15.8% of fetuses had probable single gene etiology, 26.3% were probably sporadic and 57.9% were unclassified. Autopsy was valuable in prenatal genetic counseling by confirming the USG findings with (5) or without additional information (30) in...
Source: Journal of Fetal Medicine - Category: Perinatology & Neonatology Source Type: research