Prenatal Central Nervous System Malformations: Patterns and Outcomes at a Referral Center

Abstract

Background: Congenital malformations are a major cause of prenatal and neonatal mortality worldwide. Central nervous system (CNS) malformations are among the most commonly recognized congenital anomalies. Understanding the prognosis and severity of these malformations is essential for prenatal counseling. Objectives: This study aimed to evaluate the distribution and outcomes of pregnancies complicated by CNS malformations at a tertiary referral hospital. Methods: This retrospective cohort study was conducted at the Yas Hospital Complex from December 2021 to December 2024. All patients with fetal malformations identified by sonography were assessed, and those with CNS malformations were included. Results: We analyzed 398 patients with fetal malformations and identified 135 cases (33.9%) of CNS malformations. The mean maternal age was 30.49 years, and the mean body mass index was 26.03 kg/m2. Most mothers (90.2%) reported no consanguineous relationship. Malformations were diagnosed at a mean gestational age of 23 weeks. The live birth rate was 54.1%; 25.9% of pregnancies underwent legal termination, and 3.7% resulted in neonatal death. The most common CNS malformation was ventriculomegaly, accounting for 54.8% of cases. Isolated CNS malformations occurred in 69.6% of patients. The non-isolated group had a higher termination rate. Noninvasive prenatal testing and amniocentesis predominantly yielded normal results; however, severe cases resulted in termination. These findings underscore the need for prenatal counseling regarding outcomes associated with CNS malformations. Conclusions: The mean gestational age at diagnosis was 23 weeks, underscoring the importance of early detection of fetal CNS anomalies and the fact that some cases present at later gestational ages. When considering the implications of malformations and the option of legal abortion, a higher gestational age limit, particularly near the threshold of viability, should be considered in the decision-making process.