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Relationship of risk factors for chromosomal alterations with fetal cytogenetic outcome in pregnant women

By
Yanisbell Fajardo Peña ,
Yanisbell Fajardo Peña

Hospital Ginecobstétrico Ramón González Coro, La Habana, Cuba

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Daniel Quintana Hernández ,
Daniel Quintana Hernández

Hospital Materno Infantil Manuel Piti Fajardo, Mayabeque, Cuba

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Luis Alberto Méndez Rosado ,
Luis Alberto Méndez Rosado

Centro Nacional Genética Médica. Universidad de Ciencias Médicas. La Habana, Cuba

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Teddy Osmin Tamargo Barbeito ,
Teddy Osmin Tamargo Barbeito

Hospital Clínico Quirúrgico Hermanos Ameijeiras. La Habana, Cuba

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Abstract

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.

How to Cite

1.
Fajardo Peña Y, Quintana Hernández D, Méndez Rosado LA, Tamargo Barbeito TO. Relationship of risk factors for chromosomal alterations with fetal cytogenetic outcome in pregnant women. Salud, Ciencia y Tecnología - Serie de Conferencias [Internet]. 2023 May 10 [cited 2024 Jul. 3];2:343. Available from: https://conferencias.saludcyt.ar/index.php/sctconf/article/view/343

The article is distributed under the Creative Commons Attribution 4.0 License. Unless otherwise stated, associated published material is distributed under the same licence.

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