Recurrence of Esophageal Atresia with Tracheoesophageal Fistula in Consequent Pregnancy with Co-existence of Defect in Twins

Introduction: Congenital malformations are a common cause of perinatal deaths accounting for 1015% of perinatal mortality in India. The recurrence risk of these disorders varies from negligibly low to 25% depending on the genetic disorder and its inheritance pattern. Although an anomaly scan at 1820 weeks can give a fairly accurate diagnosis, examination of the terminated fetus for associated anomalies is essential to reach the etiological diagnosis and provide genetic counseling. Materials and methods: One hundred and thirty four consecutive fetuses showing congenital malformations on ultrasonography were included in the study. Each fetus was examined according to a pre-designed protocol. This included a photograph, whole body radiograph, external and internal examination. Histopathological examination of the relevant tissue and chromosomal analysis was done when possible. Results: Out of 134 fetuses with prenatally diagnosed malformations, fetal autopsy confirmed the findings in 132 (98.5 %) cases. The remaining two cases showed absence of renal aplasia which was suspected on prenatal ultrasound, but they had other associated malformations which were not detected on ultrasonography. Fetal autopsy provided additional findings in 77 (57.4 %) cases. In 24 (31 %) of these 77 cases, the additional findings led to revision of etiological diagnosis. This resulted in significant change in the risk of recurrence in subsequent pregnancies. Conclusion: The study confirms utility of fetal autopsy for providing extra information after detection of a malformation on prenatal ultrasonography.