Ultrasonographic genetic markers of the first trimester of pregnancy to determine chromosome aberrations
Keywords:
GENETIC MARKERS, CHROMOSOME ABERRATIONS, PREGNANCY TRIMESTER, FIRST.Abstract
Background: chromosome aberrations and fetal structural anomalies are important causes of mortality in early stages of intrauterine life.
Objective: to determine the relation of the ultrasonographic genetic markers in the first trimester of pregnancy with in the onset of chromosome aberrations in pregnant women attended to at the Provincial Center of Medical Genetics of Camagüey, from January 2013 to December 2015.
Methods: a cross-sectional, analytic and observational study was carried out with these pregnant women. The universe was made up of 160 patients of the province who underwent a chromosomal cytogenetic study for having a fetus with some positive ultrasonographic genetic marker related to the first trimester of pregnancy, during the period herein mentioned. The cytogenetic study was performed from the amniotic fluid by amniocentesis. The chromosomes were obtained according Ram S. Verma and Harbin Babu procedures. A routine Giemsa-Tripsina banding was carried out, analyzing 20 metaphases in each case, ending each of them with its corresponding chromosomal formula.
Results: translocation presented the highest positive predictive value with 76,92 %, followed by the cyst of the choroid plexus with 38,46 %, and with 30,77 % the intestinal disorder in the first trimester of the pregnancy, according to the relationship of the ultrasonographic genetic markers with the cytogenetic studies. 18 chromosomal anomalies were diagnosed representing 11,2 %, with a higher relationship among 2 or more ultrasonographic markers. Trisomy 21 was the most frequent chromosomal anomaly with 6,2 %.
Conclusions: there was relationship between the ultrasonographic genetic markers in the first trimester of pregnancy and the diagnosis of chromosomal anomalies, having a positive predictive value for the early diagnosis of chromosome aberrations.
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