PERİNATAL OTOPSİLERDE SANTRAL SİNİR SİSTEMİ MALFORMASYONLARI

Abstract

Introduction: Central nervous system malformations (CNS) constitute a significant portion of congenital anomalies, and these malformations may be accompanied by many non-CNS congenital anomalies that affect prognosis. Central nervous system malformations are important causes of mortality and morbidity in fetal, neonatal and later childhood periods. Objectives: In our study, we examined the spectrum of CNS malformations in perinatal autopsies. We aimed to evaluate the risk factors that may be associated with CNS malformations, other accompanying system malformations, and the probabilty of recognition of CNS malformations by prenatal ultrasonography. Methods: Perinatal autopsies performed between January 2013 and December 2022 were examined retrospectively. Other accompanying system malformations, karyotype analysis, maternal obstetric history, maternal age, consanguineous marriage status, and prenatal ultrasonography findings were noted. The correlation between prenatal ultrasonography and autopsy findings was evaluated. Results: The incidence of CNS malformation was 19.1%. The most common CNS anomalies were corpus callosum agenesis (47.4%), neural tube defects (33.1%) and ventriculomegaly/ventricular dilatation (31.8%). Ventriculomegaly (OR: 21.3) and DWC (OR: 7.43) were detected as risk factors for multiple CNS malformations. The incidence of other organ anomalies in CNS malformations was 42%. The most commonly associated organ malformations were musculoskeletal system (19.5%), respiratory system (16.2%) and cardiovascular system (13.6%). The incidence of chromosomal anomalies associated with CNS malformations was 20.4%, and the majority of cases with chromosomal anomalies (65%) had multiple malformations. ACC was detected as a risk factor for chromosome anomaly (OR: 3.13). The average maternal age was 29.3 in the entire group and higher in cases with chromosomal abnormalities, at 31.2 (p=0.08). The rate of bad obstetric history was 42.7% and the rate of consanguineous marriage was 53.5%. Ultrasonography and autopsy findings were fully compatible in 30.3% of the cases. When minor false positives and negatives that would not cause any change in the final diagnosis or pregnancy management were included, accuracy of US was 80%. It was 89% between 11-14+6 weeks, thus the malformations that occured in the earlier weeks of pregnancy could be identified more accurately by ultrasonography. False negativity in prenatal ultrasonography was most frequently seen in ACC with 37 cases and ventricular dilatation/ventriculomegaly with 15 cases. Conclusion: When VM or DWC detected in prenatal US, it is important to perform further imaging in term of multiple CNS malformations. Karyotype analysis should be performed in terms of chromosomal anomaly when ACC detected prenatal US screening. The rate of accurate results of prenatal ultrasonography for gyral disorders, midline anomalies, posterior fossa and cerebellum anomalies, and anomalies occurring in late pregnancy is relatively low, and additional information needs to be obtained with advanced imaging methods.