Behavior of the Genetic Markers at Screening during the First Trimester of Pregnancy in Euploid Fetuses

Author:

Romero Infante Ximena Carolina1ORCID,Uriel Montserrat1ORCID,Gutiérrez Alejandra2ORCID,Hernández María Fernanda2ORCID,Hernández Andres Felipe2ORCID,Jiménez Laura Catalina2ORCID,Malagón-Rojas Jeadran Nevardo3ORCID,Rincón Franco Sara4ORCID

Affiliation:

1. Universidad El Bosque, El Bosque Research Group of Maternal Fetal Medicine and Gynecology, Ecodiagnóstico El Bosque SAS, Los Cobos Medical Center, Bogotá, Colombia

2. Universidad El Bosque, El Bosque Research Group of Maternal Fetal Medicine and Gynecology, Bogotá, Colombia

3. Universidad El Bosque, Research Group of Community Medicine and Collective Health, Bogotá, Colombia

4. Universidad El Bosque, El Bosque Research Group of Maternal Fetal Medicine and Gynecology, Ecodiagnóstico El Bosque SAS, Bogotá, Colombia

Abstract

Abstract Objective This study aims to describe the behavior of chromosomopathy screenings in euploid fetuses. Methods This is a prospective descriptive study with 566 patients at 11 to 14 weeks of gestation. The associations between ultrasound scans and serological variables were studied. For the quantitative variables we used the Spearman test; for the qualitative with quantitative variables the of Mann-Whitney U-test; and for qualitative variables, the X2 test was applied. Significance was set at p ≤ 0.05. Results We have found that gestational age has correlation with ductus venosus, nuchal translucency, free fraction of β subunit of human chorionic gonadotropin, pregnancy-associated plasma protein-A and placental growth factor; there is also a correlation between history of miscarriages and nasal bone. Furthermore, we correlated body mass index with nuchal translucency, free fraction of β subunit of human chorionic gonadotropin, and pregnancy-associated plasma protein-A. Maternal age was associated with free fraction of β subunit of human chorionic gonadotropin and pregnancy-associated plasma protein-A. Conclusion Our study demonstrates for the first time the behavior of the biochemical and ultrasonographic markers of chromosomopathy screenings during the first trimester in euploid fetuses in Colombia. Our information is consistent with international reference values. Moreover, we have shown the correlation of different variables with maternal characteristics to determine the variables that could help with development of a screening process during the first trimester with high detection rates.

Funder

El Bosque Research Group of Maternal Fetal Medicine and Gynecology, Ecodiagnóstico El Bosque S. A. S

Universidad El Bosque

Publisher

Georg Thieme Verlag KG

Subject

Obstetrics and Gynecology

Reference29 articles.

1. [Prenatal diagnosis of congenital anormalies; an absent policy in Colombia];G A Restrepo Cano;Rev Fac Med (Caracas),2016

2. First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing;D Wright;Fetal Diagn Ther,2014

3. Diagnóstico prenatal y cribado de cromosomopatías;M N Parga Soler;Med Fam Ginecol Obstet.,2001

4. Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13;M Santorum;Ultrasound Obstet Gynecol,2017

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