Pathological and Genetic Analysis of Foetuses with Ultrasonogram Detected Congenital Anomalies: A Cross-sectional Study from Southern India

Introduction: Prenatal Ultrasonogram (USG) detects the majority of congenital anomalies, but a few cases may be missed due to multiple reasons. Hence, a detailed post-mortem evaluation of foetuses following termination of pregnancy can help to arrive at a final diagnosis and aid in counselling couples about future pregnancies. Aim: To compare prenatal ultrasound findings with autopsy findings and karyotyping in medically terminated foetuses between 12 and 20 weeks of gestation. Materials and Methods: A cross-sectional hospital-based study was conducted at Department of Obstetrics and Gynaecology (OBG), Government Medical College, Trivandrum, Kerala, India, from February 2018 to January 2019. Pregnant women who underwent Medical Termination of Pregnancy (MTP) for ultrasound-detected congenital anomalies between 12 and 20 weeks were included in the study. A detailed foetal autopsy was done and karyotyping of the foetuses was carried out. Prenatal ultrasound findings were compared with the ultrasound reports. Descriptive statistics were used and results were expressed in terms of frequency and percentages. Results: The mean maternal age of the study participants was 26.32±4.9 years. Among the 50 foetuses examined, majority had Central Nervous System (CNS) anomalies, with 34 cases (46.5%). Foetal autopsy confirmed the ultrasound findings in all cases except one, resulting in 49 confirmed cases. Autopsy had full agreement with prenatal ultrasonogram in 28 cases (56%). Major additional autopsy findings were noted in 10 cases (20%), minor additional findings in 7 cases (14%) and both minor and major additional findings in 4 cases (8%). Major congenital anomalies are those that have medical, surgical, or cosmetic significance, like neural tube defects or orofacial clefting. Conclusion: Foetal autopsy plays a major role in providing additional information for counselling couples and the management of future pregnancies.