Sonographic markers in the prenatal diagnosis of birth defects
Abstract
Introduction: Identifying sonographic markers in the fetus as anatomical variations of normality allows us to provide individualized prenatal genetic counseling and care.
Objective: To characterize sonographic markers in the prenatal diagnosis of birth defects.
Methods: A retrospective, descriptive, and observational study was carried out from January 2015 to December 2021 on 550 fetuses. The presence of sonographic markers was confirmed by means of two-dimensional ultrasound in the three trimesters of pregnancy. For this research, genetic variables of clinical interest were estimated, and descriptive statistics were used for information processing.
Results: Sonographic markers were confirmed in 550 fetuses (5.3%), predominantly possible cranioencephalic anomalies (26.7%), followed by nephrological and urological (24.7%), cardiovascular (22.0%), and digestive (13.0%) anomalies. The least common were osteomyoarticular anomalies, diagnosed in only five cases (0.9%). One hundred and four fetuses (2.5%) were diagnosed with structural congenital defects. Prenatal cytogenetic diagnosis of chromosomopathies in amniotic fluid was performed on 71 pregnant women (12.9%), and normal alpha-fetoprotein values were found in 502 cases. Voluntary termination of pregnancy was considered in 50 cases (9.09%) due to the severity of the diagnosed birth defect, while follow-up was considered in the remaining 500 cases (90.9%) as there were no risks to postnatal life or negative outcomes for the couple.
Conclusions: The predictive value of sonographic markers in prenatally diagnosing structural birth defects was demonstrated, as was their importance in genetic counseling.
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22 julio 2025