Mariana Gouveia Lopes1, Beatriz Figueiredo2, Catarina Faria Tavares, Marta Carvalho3, Raquel Henriques4.
1Department of Paediatrics, ULS da Região de Leiria, Leiria, Portugal,
2Department of Obstetrics, ULS de Coimbra, Coimbra, Portugal,
3Department of Paediatrics, ULS Baixo Mondego, Figueira da Foz, Portugal,
4Department of Neonatology, ULS de Coimbra, Coimbra, Portugal.
|
Abstract
Introduction: Central nervous system (CNS) malformations are congenital anomalies with neurodevelopmental impact, posing challenges for care planning and family counseling. This study to characterize newborns with CNS malformations born between January 1, 2018, and December 31, 2022, in a level maternity hospital.
Methods: A retrospective descriptive study included newborns with CNS malformations born between January 1, 2018, and December 31, 2022. Demographic data, malformation type, timing of diagnosis, associated conditions, and follow-up were analyzed. Statistical analysis was performed using SPSS® v.29.
Results: Twenty newborns were included (14 female). Ventriculomegaly was the most common malformation in 15 cases. Other anomalies included one case each of mega cisterna magna, agenesis of the corpus callosum, occipital encephalocele, agenesis of the septum pellucidum, and periventricular heterotopia. Three newborns were preterm. Prenatal diagnosis occurred in 17 cases (median 27 weeks). Fetal MRI, performed in 3 cases, confirmed ultrasound findings. All newborns received developmental follow-up with referrals as needed. Genetic testing identified trisomy 21 in one infant and a paternal chromosome 15 deletion in another. Among children without a genetic diagnosis, four showed neurodevelopmental abnormalities at 24 months: two with ventriculomegaly (one with GDD and hearing loss, one with GDD), one with periventricular heterotopia (motor delay), and one with corpus callosum agenesis (motor delay).
Conclusion: Ventriculomegaly was the most frequent malformation, and most mild or moderate cases had normal neurodevelopment at 24 months. Motor delay occurred in two children. These findings highlight the importance of multidisciplinary follow-up for intervention and family counseling.
|