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

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.

Resumo

Objetivo Este estudo tem como objetivo descrever o comportamento do rastreamento de cromossomopatias em fetos euploides.

Métodos Trata-se de um estudo prospectivo descritivo com 566 pacientes, entre 11 e 14 semanas de gestação. A associação entre a ultrassonografia e as variáveis sorológicas foi estudada. Para as variáveis quantitativas foi utilizado o teste de Spearman; para as qualitativas com variáveis quantitativas foi utilizado o teste U de Mann-Whitney e para as variáveis qualitativas foi aplicado o teste X2. A significância foi fixada em p ≤ 0,05.

Resultados Constatou-se que a idade gestacional tem correlação com o ducto venoso, translucência nucal, fração livre da subunidade β da gonadotrofina coriônica humana, proteína plasmática A associada à gravidez e fator de crescimento placentário; há também correlação entre a história de abortos e o osso nasal. Além disso, correlacionamos o índice de massa corporal com translucência nucal, fração livre da subunidade β da gonadotrofina coriônica humana e proteína plasmática A associada à gravidez. A idade materna foi relacionada com fração livre da subunidade β da gonadotrofina coriônica humana e proteína plasmática A associada à gravidez.

Conclusão Nosso estudo demonstra pela primeira vez o comportamento dos marcadores bioquímicos e ultrassonográficos de triagem de cromossomas durante o primeiro trimestre em fetos euploides na Colômbia. Nossa informação é consistente com a referência de valores internacionais. Além disso, mostram-se as relações das diferentes variáveis com as características maternas para determinar as variáveis capazes de ajudar no desenvolvimento de um processo de rastreamento durante o primeiro trimestre com alta taxa de detecção.

Keywords

genetic markers - screening - ultrasonography - chromosomal abnormality - pregnancy

Palavras-chave

marcadores genéticos - triagem - ultrassonografia - anormalidade cromossômica - gravidez

Contributions

All authors substantially contributed to the conception and design of the study, data collection, analysis and interpretation, writing of the article, its clinical review, and approval of its final version.

Publication History

Received: 11 November 2021

Accepted: 02 February 2022

Article published online:
06 June 2022

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