Study of Central Nervous System Malformations of Perinatal Autopsies

ABSTRACT

Background: Congenital malformations remain a common cause of perinatal deaths accounting for 10-15% in developing countries like India. They are the most severe disorders of the central nervous system. Although antenatal screening for congenital anomalies has been improved over the years, fetal autopsy remains the gold standard for the iden?fica?on and confirma?on of congenital malforma?ons. The present study emphasizes the importance of perinatal autopsy for understanding the cause of death and also conforma?on of the antenatal diagnosis of the spectrum of various congenital CNS malforma?ons. Methods: We studied 644 perinatal autopsies conducted in our hospital. The dura?on of the study was 5 years, from 1st August 2015 to 31st July 2020 that included all perinatal autopsies with gesta?onal age of 22 weeks to less than 7 days. Results: Out of 644 perinatal autopsies 125 cases (19.4%) had congenital anomalies, of which 62 cases (9.6%) showed CNS malforma?ons. The most common CNS anomalies encountered were anencephaly 14 cases (22.6%) followed by 10 cases (16.1%) each of spina bifida and meningocele, and 8 cases (12.9%) of meningomyelocele. In the present study, 6 (9.7%) cases of CNS malforma?ons were associated with known syndromes namely Edward syndrome, Potter’s syndrome, and KlippelFeil syndrome. Along with CNS in 21 (33.9%) cases we observed associated malforma?ons of other systems with 7 cases involving the musculoskeletal system, 3 cases involving the genitourinary system, and 5 (8.1%) cases showing mul?system involvement. Conclusion: Antenatal screening for congenital anomalies has been improved over the years. Even then fetal autopsy remains the gold standard for the iden?fica?on and confirma?on of congenital malforma?ons. Understanding this gives valuable informa?on that can be further helpful in the gene?c counseling of the parents.