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

Title: Behavior of the Genetic Markers at Screening during the First Trimester of Pregnancy in Euploid Fetuses.
Transliterated Title: Comportamento dos marcadores genéticos na triagem durante o primeiro trimestre de gravidez em fetos euploides.
Authors: Romero Infante XC; Universidad El Bosque, El Bosque Research Group of Maternal Fetal Medicine and Gynecology, Ecodiagnóstico El Bosque SAS, Los Cobos Medical Center, Bogotá, Colombia.; Uriel M; Universidad El Bosque, El Bosque Research Group of Maternal Fetal Medicine and Gynecology, Ecodiagnóstico El Bosque SAS, Los Cobos Medical Center, Bogotá, Colombia.; Gutiérrez A; Universidad El Bosque, El Bosque Research Group of Maternal Fetal Medicine and Gynecology, Bogotá, Colombia.; Hernández MF; Universidad El Bosque, El Bosque Research Group of Maternal Fetal Medicine and Gynecology, Bogotá, Colombia.; Hernández AF; Universidad El Bosque, El Bosque Research Group of Maternal Fetal Medicine and Gynecology, Bogotá, Colombia.; Jiménez LC; Universidad El Bosque, El Bosque Research Group of Maternal Fetal Medicine and Gynecology, Bogotá, Colombia.; Malagón-Rojas JN; Universidad El Bosque, Research Group of Community Medicine and Collective Health, Bogotá, Colombia.; Rincón Franco S; Universidad El Bosque, El Bosque Research Group of Maternal Fetal Medicine and Gynecology, Ecodiagnóstico El Bosque SAS, Bogotá, Colombia.
Source: Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia [Rev Bras Ginecol Obstet] 2022 Jul; Vol. 44 (7), pp. 646-653. Date of Electronic Publication: 2022 Jun 06.
Publication Type: Journal Article
Language: English
Journal Info: Publisher: Federação das Sociedades de Ginecologia e Obstetrícia Country of Publication: Brazil NLM ID: 9214757 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1806-9339 (Electronic) Linking ISSN: 01007203 NLM ISO Abbreviation: Rev Bras Ginecol Obstet Subsets: MEDLINE
Imprint Name(s): Publication: 2024- : São Paulo : Federação das Sociedades de Ginecologia e Obstetrícia; Original Publication: [São Paulo, Brazil] : Medisa Editora
MeSH Terms: Down Syndrome*/diagnosis ; Chromosome Disorders*; Fetus/metabolism ; Pregnancy-Associated Plasma Protein-A/metabolism ; Biomarkers ; Chorionic Gonadotropin ; Chorionic Gonadotropin, beta Subunit, Human ; Female ; Genetic Markers ; Humans ; Maternal Age ; Nuchal Translucency Measurement ; Placenta Growth Factor ; Pregnancy ; Pregnancy Trimester, First ; Prenatal Diagnosis
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.; (Federação Brasileira de Ginecologia e Obstetrícia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/).)
Competing Interests: The authors have no conflict of interests to declare.
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Grant Information: El Bosque Research Group of Maternal Fetal Medicine and Gynecology, Ecodiagnóstico El Bosque S. A. S PMMFGEB-011; Universidad El Bosque PCI-2013-472
Contributed Indexing: Local Abstract: [Publisher, Portuguese]  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. [Publisher, Portuguese]  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.
Substance Nomenclature: 0 (Biomarkers); 0 (Chorionic Gonadotropin); 0 (Chorionic Gonadotropin, beta Subunit, Human); 0 (Genetic Markers); 144589-93-5 (Placenta Growth Factor); EC 3.4.24.- (Pregnancy-Associated Plasma Protein-A)
Entry Date(s): Date Created: 20220606 Date Completed: 20220810 Latest Revision: 20250728
Update Code: 20260130
PubMed Central ID: PMC9948148
DOI: 10.1055/s-0042-1744461
PMID: 35667377
Database: MEDLINE

Journal Article