Clinical manifestations in patients with a prenatal diagnosis of central nervous system anomalies by obstetric ultrasound. Case series, 2020-2022
Keywords:
congenital anomalies, central nervous system, obstetric ultrasound, clinical manifestations, pediatric neurology.Abstract
Introduction: Congenital anomalies of the central nervous system (CNS) are among the leading causes of childhood disability. Prenatal ultrasound is a key diagnostic tool; however, in Cuba, little is known about the postnatal clinical course of these patients.
Objective: To describe the postnatal clinical manifestations in infants and preschool children prenatally diagnosed with CNS anomalies by obstetric ultrasound between 2020 and 2022.
Methods: A descriptive, observational, longitudinal case series study was conducted. Fifteen patients referred to the National Prenatal Reference Clinic for confirmation of congenital defects were included. Demographic variables, anomaly type, postnatal clinical manifestations, and neurological outcomes were analyzed. Absolute and relative frequencies were used. Results: The most frequent anomalies were hydrocephalus (26.7 %), agenesis of the corpus callosum (20 %), ventriculomegaly (20 %), and Dandy-Walker malformation (13.3 %). Sixty percent of patients showed psychomotor delay, 40 % epilepsy, and 33.3 % significant cognitive impairment. Agreement between prenatal diagnosis and postnatal findings was 86.6 %. Conclusions: Most patients prenatally diagnosed with CNS anomalies presented postnatal neurological manifestations. Early multidisciplinary follow-up and genetic counseling are essential for prognosis and family support.
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