Spectrum of Neural Tube Defects Among the Fetal Autopsies in a Tertiary Care Hospital in Southern India

Abstract

Background: Neural tube defects (NTDs) are congenital disorders with multifactorial etiology that increase the risk of death as well as disability in early neonatal period and infancy. Objective: The study was conducted in a tertiary care referral hospital to analyse the disease burden of neural tube defects and to study the associated anomalies in the affected fetuses. Materials and Methods: This study was conducted retrospectively from January 2011 to December 2020 on a total number of 402 fetal autopsies received after abnormal ultrasonographic findings and intrauterine deaths diagnosed prenatally. Results: Out of the total 402 cases of fetal autopsies, 42 neural tube defects were detected, 33(79 %) were open type and 9(21%) were closed type neural tube defects. Out of the open type, majority were meningomyeloceles with 18 (43% of NTDs) cases, 11(26% of NTDs) cases were of anencephaly. Arnold chiari malformation was associated in 4 cases and a rare case of craniorachischisis was encountered. Among the closed type, 6 (14%) were meningoceles and 3(7%) were encephaloceles. A case of Meckel Gruber syndrome with an associated encephalocele was diagnosed. Conclusion:The present study would contribute to the prevalent disease burden of neural tube defects in Southern India, proving to be useful in the design and implementation of appropriate comprehensive preventive strategies including nutritional fortification, swift antenatal diagnosis and prompt intervention to reduce the morbidity.