Detection of Central Nervous System Anomalies: A Retrospective Study of 18 Cases
Somri Bilel*, Hannachi Mohamed Amine, Samaali Khaoula, Zangar Salim, Jelloul Rayhane, Mizouni Rihab, Bamri Mohamed Aziz, Malek Monia and Neji Khaled
Objective: This study aims to describe the epidemiological profile and ultrasound characteristics of central nervous system (CNS) anomalies detected during first-trimester screening and to assess the contribution of early ultrasound in prenatal diagnosis.
Methods: A retrospective descriptive study was conducted, including 18 pregnant women with fetal CNS anomalies diagnosed during first-trimester ultrasound screening from January 1, 2023, to December 31, 2024. Maternal epidemiological characteristics, gestational age at diagnosis, and types of CNS anomalies were analyzed.
Results: The mean maternal age was 30.7 years, with 37.7% of women aged over 35 years. Nulliparous women were the most affected (61%). Consanguinity was reported in three cases. Two patients had a history of fetal CNS malformations (one hydrocephalus and one exencephaly); neither received periconceptional folic acid supplementation. The mean gestational age at diagnosis was 12 weeks. Exencephaly was the most frequent anomaly (7 cases), followed by acrania (3 cases), alobar holoprosencephaly (2 cases), rachischisis (2 cases), myelomeningocele (1 case), anencephaly (1 case), macrocrania (1 case), and hydrocephalus (1 case).
Conclusion: First-trimester ultrasound enables early detection of severe CNS anomalies. Identification of epidemiological risk factors emphasizes the importance of preconception care and systematic early screening.
