Congenital Central Nervous System and Associated Systemic Anomalies in Foetal and Perinatal Autopsy- A Retrospective Study

Abstract

Introduction: Congenital malformations in India accounts for 10-15% of perinatal deaths. Congenital Heart Defects (CHD) is most common congenital anomaly followed by Central Nervous System (CNS) anomalies, among which Neural Tube Defects (NTD) are most common. Folic acid deficiency can lead to NTDs and can be corrected by its supplementation in subsequent pregnancies. The authors analysed neurological anomalies in foetal and perinatal autopsies to ascertain distribution of various congenital neurological malformations and to classify those according to World Health Organization (WHO) classification system and their association with other systemic malformation. Aim: To study CNS and its assosciated systemic anomalies in foetal autopsies. Materials and Methods: This retrospective study was conducted in Department of Pathology, Karnataka Institute of Medical Sciences, Hubli, Karnataka, India from July 2015 to June 2020 and analysed 500 foetal autopsies retrospectively. Data regarding maternal age, parity, history of previous abortion, foetal birth weight, gestational age, gender and CNS and other systemic anomalies detected at autopsy were included from departmental autopsy database. Data was presented as frequencies and percentages using Microsoft Excel 2017. Results: In the study, 500 foetal autopsies were analysed, out of which 70 (14%) foetuses had CNS anomalies. Among 70 foetuses with CNS anomalies, anencephaly was most common 25 (35%) followed by meningomyelocele 19 (27%), Arnold chiari type 2 malformation 8 (11.4%), congenital hydrocephalus and encephalocele 5 (7%). Multiple neurological anomalies were observed in various combinations. Neurological with musculoskeletal anomalies were also observed in the present study. Conclusion: Foetal autopsy plays an important role in arriving at final diagnosis and detecting cause of death. Findings of autopsy are of practical significance to clinicians in the form of estimating risk of recurrence and genetic counselling.

Keywords

• congenital malformations
• neural tube defects
• perinatal death