| Summary: | <p><strong>Background</strong>: ultrasonography is the main tool for the diagnosis of developmental disorders, as it detects congenital anomalies before birth.</p><p><strong>Objective</strong>: to describe the prenatal diagnosis of the first trimester of pregnancy by ultrasonography, performed to pregnant women of Las Tunas, from 2011 through 2016.</p><p><strong>Methods</strong>: a descriptive and retrospective study of the prenatal diagnosis by ultrasonography during the first trimester of pregnancy was carried out at the provincial department of genetics of "Mártires de Las Tunas" Provincial Pediatric Hospital, during the period herein mentioned. The register of congenital malformations was used and the following variables were analyzed: assessed pregnant women, diagnosed congenital anomalies, system classification of the congenital anomalies and genetic markers.</p><p><strong>Results</strong>: 74 congenital anomalies of the first trimester were reported in the six studied years, representing 0,2 % of the assessed pregnant women. The adjusted prevalence of these first-trimester defects was 2,0 per 1000 live births. Neural tube defects predominated with 28 cases for 37,8 %. Nuchal translucency (NT) was the genetic marker mostly observed with 76 out of 102 total cases for 74,5 %, followed by combined markers, 24 cases for 23,5 %.</p><strong>Conclusions</strong>: first-trimester ultrasonography permitted to diagnose developmental congenital defects and genetic markers, useful in the diagnosis of chromosomal anomalies, fetal malformations and genetic syndromes.
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