Introduction:

ultrasound markers in the first and second trimester of pregnancy are considered to be of great importance in the diagnosis of chromosomopathies, but there are few studies that support their predictive value for the diagnosis of birth defects by organ system.

Objective:

to evaluate the predictive capacity of ultrasonographic markers for the diagnosis of congenital defects by organ system, in the "Joaquín de Agüero" Polyclinic, from January 2020 to January 2022.

Methods:

an analytical study of diagnostic means was carried out in 677 pregnant women. Clinical genetic examination, imaging tests of the newborn, or necropsy in case of interruptions or abortions were used as gold tests, from which the groups were formed. Sensitivity, specificity, predictive values and likelihood ratio were determined for markers with significant association to establish their capacity for birth defects in general and by systems.

Results:

the markers that showed association with the presence of congenital defects were all except nasal bone, echogenic focus and intestinal hyperechogenicity, but only nuchal translucency and ductus venosus showed significant values as diagnostic tests, translucency with predictive capacity for defects of cardiovascular, osteomyoarticular systems, and alterations of two or more systems and ductus for defects of the cardiovascular system.

Conclusions:

The ultrasound markers that had predictive value for diagnosing congenital defects were nuchal translucency and ductus venosus.

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