Introduction: Central nervous system accounts for the most common malformation seen in fetal life. It is associated with extracranial malformations, chromosomal aneuploidies, single gene mutation and associations. Accurate diagnosis helps in identifying the etiology and preventing risk of recurrence.
Materials and Methods: The study was a retrospective observational study conducted in the department of Maternal and Reproductive Health at Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, from January 2010 to December 2018. Antenatal women with fetal CNS malformations were included, spectrum of fetal malformation was observed, prenatal invasive testing and fetal MRI was offered when indicated. Antenatal findings were correlated with fetal autopsy.
Results: During the study period, 3018 fetal malformations were observed. Of them 462(15.3%) fetuses had CNS malformations. 354(76.62%) had isolated CNS malformations and 108(23.38%) had malformations of other systems in addition. Majority of foetuses with isolated CNS malformations had NTD (195, 55%) whereas 45% (n=159) had malformations confined to brain. 68% of foetuses with NTD were referred after 20weeks of gestation. Of 108 foetuses with multiple malformations, 44 were syndromic. Conclusion: CNS malformations are most common fetal malformations. NTD are most common CNS malformation but more than half of them are diagnosed after legal limit of termination. Fetal MRI and autopsy should be offered to can women with fetal CNS malformations.
