Post-mortem examination of prenatally diagnosed fatal renal malformation

Objective: Renal malformations can be associated with genetic syndromes and chromosomal disorders. Fetal autopsy including histopathological examination of kidney is important to arrive at definite diagnosis. The objective was to assess importance of fetal autopsy and histopathology. Study Design: Retrospective analysis of cases with fetal renal malformations was done. All fetuses terminated were examined with whole body radiograph, external and internal examination and histopathological examination. Result: A total of 21 cases with renal malformations were studied. Of all 3 were of bilateral renal agenesis, 4 showed autosomal recessive polycystic kidney disease and 13 showed features of multicystic kidney. Three of these had hyperplasic-enlarged bladder and autopsy confirmed urorectal septum malformations in two cases and posterior urethral valve in one case. One case had associated malformations like encephalocele that suggested diagnosis of Meckel-Gruber syndrome and another had associated lateral body wall defect. In five cases kidney was hypoplastic suggestive of Potter type IIa. Conclusion: Ultrasound is an effective diagnostic modality; however fetal autopsy after termination of pregnancy is important to arrive at a definitive diagnosis. It's important to distinguish between autosomal recessive polycystic kidney disease (ARPKD) and cystic dysplastic kidney as recurrence risk is 3% in case of cystic renal dysplasia in contrast to 25% in case of ARPKD. Gross examination may point toward syndromic diagnosis like Meckel-Gruber syndrome; hence mode of prenatal diagnosis may vary in subsequent pregnancies.