Central nervous system malformations and associated defects diagnosed by obstetric ultrasonography

Abstract

Objective: To identify and evaluate the prevalence of congenital central nervous system (CNS) malformations and associated defects diagnosed by obstetric ultrasonography. Materials and Methods: Observational, descriptive, crosssectional study developed in an institution of reference for high-risk pregnancies. Results: Congenital CNS malformations without other associated defects were present in 65.78% of cases, as follows: hydrocephalus (37.5%), myelomeningocele (15%), encephalocele (12.5%), corpus callosum agenesis (12.5%), anencephaly (12.5%), holoprosencephaly (7.5%), Dandy-Walker (7.5%), Arnold-Chiari (5.0%), hydranencephaly (5.0%), meningocele (5.0%), arachnoid cyst (2.5%). Congenital malformations of other systems were associated with such malformations, as follows: craniofacial (73.9%), orthopedic (65.2%), cardiovascular (34.8%), genitourinary (30.4%), gastrointestinal (30.4%), respiratory (8.7%), syndromic (8.7%), ophthalmologic (4.3%). The sonographic sensitivity in the study of CNS malformations was 79.4%. The rate of false-negative results was 20.5%. Oligohydramnios, present in 25% of false-negative studies, stands out among the quantifiable limitations. Conclusion: Obstetric ultrasonography presents good sensitivity in the screening for fetal CNS malformations, specially with the constant improvement and control of specialized methods such as Doppler and volumetric ultrasonography (3D/4D), contributing to consolidate its role as a modality of choice in this routine. Magnetic resonance imaging may play a supplementary role, providing information for an even better perinatal care.