Integration of Prenatal Sonography, Fetal Autopsy, Histopathology and Genetic Tests in Anomalous Fetuses and Diagnostic Yield.

Background: Congenital abnormalities or birth defects occur in approximately 2-4% of live births. These birth defects can commonly occur due to genetic association, infections, nutritional, environmental factors or multifactorial. Role of ultrasound in detecting these anomalies is already established. Fetal autopsy is a valuable adjunct toward establishing the correct diagnosis and narrowing the field of investigations for a specific etiology.

Methodology: A prospective observational study was conducted in Vardhman Mahavir Medical College and Safdarjung Hospital including 50 women who underwent termination of pregnancy due to prenatal ultrasound diagnosis of anomalous fetus. In 6% women who had advanced gestation beyond 24 weeks, termination was done after taking permission from medical board of the institute. All data were collected and agreement between initial ultrasound diagnosis and autopsy, histopathology and genetic testing was evaluated.

Results: Among the study group 56% of women were between 20 and 25 years of age and 14% were a consanguineous couple. Recurrent anomalous condition was present in 8% fetuses. The most frequently involved system in this study was the urinary system (22%) followed by cardiovascular system (16%) and central nervous system (16%) equally. Multisystem involvement was identified in 10% on ultrasound. Autopsy added to prenatal ultrasound diagnosis in 54% cases, histopathology in 22%, prenatal or post-autopsy and histopathology-based genetic testing added to the diagnosis in 32% of cases.

Conclusion: We conclude that autopsy, histopathology and genetic testing can significantly improve the diagnostic yield when performed all together or even in isolation.