Fetal Autopsy: Insights Into the Spectrum of Dysraphisms With Associated Anomalies

Introduction and aim Malformations of the central nervous system (CNS) are one of the most devastating, yet most common congenital anomalies. Congenital CNS anomalies are structural or functional abnormalities of the brain and spinal cord that occur during the intrauterine developmental period and have a high intrauterine mortality. This study aimed to determine the frequency and distribution of neural tube defects (NTDs) in a tertiary care center for a period of 4.5 years. The neural tube defect was analyzed along with the other associated anomalies in the fetus. Its association with maternal risk factors was also analyzed. Materials and methods This retrospective study includes a total of 48 cases of neural tube defects, over a period of 4.5 years from January 2019 to June 2023, retrieved from the archives of the Department of Pathology at Saveetha Medical College. The study population included all fetuses diagnosed with NTDs during the fetal autopsies conducted at Saveetha Medical College during the period of study. The variables studied include maternal age, maternal risk factors, sex of the fetus, other associated anomalies in the fetus, and placental anomalies associated with the NTDs. Results A total of 48 cases of NTDs were included in this study. NTDs were more common among the female fetuses when compared with the male fetuses. The most common NTD observed in our study was anencephaly. The associated anomalies seen with NTDs include dysplastic kidney, unilateral renal agenesis, agenesis of urinary bladder, sacral agenesis, diaphragmatic hernia, bilateral talipes equinovarus deformity in both lower limbs. In the present study, among the placental defects seen in fetuses with NTDs, single umbilical artery was seen in four fetuses with NTDs. Twelve out of the 48 females included in the study did not take folic acid supplements during the antenatal period, and two females had a history of neural tube defects in their previous pregnancies. Conclusion  This study emphasizes that intensive screening and documentation of coexistent abnormalities of NTDs is needed. Either ultrasonography/MRI or fetal autopsy should be conducted in order to exhibit certain diagnoses and to conduct proper prenatal genetic counseling for parents with fetuses having NTDs or having a history of fetuses with NTDs regarding ongoing and future pregnancies.