Publication:

Congenital urogenital anomalies detected in foetal autopsies: a case series

Foetal anomalies are congenital defects that can affect multiple organ systems, including the urogenital system. Congenital anomalies of the kidney and urinary tract (CAKUT) are a significant subset of these disorders, often leading to severe complications that impact foetal viability and affect postnatal outcomes. Early prenatal detection through imaging and genetic testing plays a crucial role in managing these conditions. Despite advances, foetal autopsy remains the gold standard for confirming diagnoses, identifying other associated anomalies, and understanding the embryological developmental basis of these defects. This autopsy series was conducted at the department of pathology, Sri Ramachandra institute of higher education and research, to analyse urogenital anomalies detected in foetal autopsies over a four-year period (January 2020-January 2024). Out of 352 foetal autopsies, 19 cases exhibited urogenital anomalies. We present a detailed analysis of five representative cases, which include unilateral renal agenesis associated with pentalogy of Cantrell, autosomal recessive polycystic kidney disease (ARPKD), Pearson syndrome with renal involvement, foetal megacystis, and bilateral renal agenesis with oligohydramnios (Potter syndrome). Each case highlights the complexity of urogenital malformations, their systemic implications, and the necessity for genetic counselling. These findings reinforce the importance of foetal autopsy in validating prenatal imaging and genetic results. Autopsy data provide valuable insights into the anatomical and pathological characteristics of these anomalies, aiding in the accurate classification of congenital disorders. Additionally, this series emphasises the role of genetic counselling in assisting parents with recurrence risk assessment and future planning. By integrating prenatal diagnostic techniques with post-mortem findings, this series emphasises the need for a multidisciplinary approach in managing congenital urogenital anomalies, thereby improving diagnostic accuracy, management, and family support strategies.