Hospital Ginecobstétrico Ramón González Coro, La Habana, Cuba
Hospital Materno Infantil Manuel Piti Fajardo, Mayabeque, Cuba
Centro Nacional Genética Médica. Universidad de Ciencias Médicas. La Habana, Cuba
Hospital Clínico Quirúrgico Hermanos Ameijeiras. La Habana, Cuba
Introduction: Chromosomal alterations are an important cause of fetal disease and mortality.
Objective: To identify the risk factors of chromosomal alterations associated with fetal cytogenetic results in pregnant women in Mayabeque province.
Methods: An observational, analytical, cross-sectional, and retrospective epidemiological case-control study was conducted in a 1:2 ratio, at a relational research level, in pregnant women who underwent prenatal cytogenetic diagnosis in Mayabeque from 2011-2022. The sample comprised 94 cases with positive cytogenetic prenatal diagnoses and 188 negative controls.
Results: In the control group, advanced maternal age predominated as in the cases (p=0.055; OR=0.594). Positive ultrasound findings predominated in cases over controls (p<0.001 and OR=3.4). Elevated nuchal translucency was more frequent in cases than in controls (p<0.001; OR=20.0). Early fetal growth restriction (p<0.001), long bone shortening (p=0.004), and intestinal hyperechogenicity grade III (p=0.006) were present only in cases. The association of advanced maternal age with second-trimester markers obtained statistically significant results (p=0.017; OR=10.5).
Conclusions: Advanced maternal age constitutes the main indication for amniocentesis for cytogenetic prenatal diagnosis in Mayabeque province; however, it is not a sufficient criterion to offer the pregnant woman an invasive procedure. The association of the chronological age of the pregnant woman with ultrasound findings in the first and second trimesters was a more accurate combination to establish the risk of chromosomal alterations in the fetus.
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