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J Matern Fetal Neonatal Med. 2020 Apr;33(7):1134-1139. doi: 10.1080/14767058.2018.1517152. Epub 2018 Sep 25.
2
Overall evaluation of the clinical value of prenatal screening for fetal-free DNA in maternal blood.母血中胎儿游离DNA产前筛查临床价值的综合评估
Medicine (Baltimore). 2017 Jul;96(27):e7114. doi: 10.1097/MD.0000000000007114.
3
The first trimester combined test for aneuploidies - a single center experience.孕早期非整倍体联合检测——单中心经验
J Matern Fetal Neonatal Med. 2018 Aug;31(16):2091-2096. doi: 10.1080/14767058.2017.1336220. Epub 2017 Jun 14.
4
Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13.孕早期联合检测在筛查21、18和13三体综合征中的准确性。
Ultrasound Obstet Gynecol. 2017 Jun;49(6):714-720. doi: 10.1002/uog.17283. Epub 2017 Apr 26.
5
First-trimester contingent screening for trisomies 21, 18 and 13 by fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing.孕早期通过胎儿颈部透明带厚度、静脉导管血流及孕妇游离DNA检测对21-三体、18-三体和13-三体进行联合筛查。
Ultrasound Obstet Gynecol. 2015 Jan;45(1):42-7. doi: 10.1002/uog.14691. Epub 2014 Nov 28.
6
Maternal body weight and first trimester screening for chromosomal anomalies.孕妇体重与孕早期染色体异常筛查
Aust N Z J Obstet Gynaecol. 2014 Oct;54(5):490-2. doi: 10.1111/ajo.12231.
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First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free β-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome.孕早期使用生化标志物妊娠相关血浆蛋白A(PAPP-A)和游离β-人绒毛膜促性腺激素(β-hCG)进行唐氏综合征、帕陶氏综合征和爱德华氏综合征的母体血清筛查。
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8
First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing.早孕期超声结合生化检测筛查 21、18、13 三体综合征。
Fetal Diagn Ther. 2014;35(2):118-26. doi: 10.1159/000357430. Epub 2013 Dec 18.
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The role of ductus venosus Doppler flow in the diagnosis of chromosomal abnormalities during the first trimester of pregnancy.静脉导管多普勒血流在妊娠早期诊断染色体异常中的作用。
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胎儿正常的妊娠早期筛查中的遗传标记行为。

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

机构信息

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

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

出版信息

Rev Bras Ginecol Obstet. 2022 Jul;44(7):646-653. doi: 10.1055/s-0042-1744461. Epub 2022 Jun 6.

DOI:10.1055/s-0042-1744461
PMID:35667377
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9948148/
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 X test was applied. Significance was set at ≤ 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.

摘要

目的

本研究旨在描述染色体病筛查在整倍体胎儿中的表现。

方法

这是一项前瞻性描述性研究,共纳入 566 例 11 至 14 周妊娠的患者。研究了超声扫描和血清学变量之间的相关性。对于定量变量,我们使用 Spearman 检验;对于定性和定量变量,使用 Mann-Whitney U 检验;对于定性变量,应用 X 检验。显著性水平设为 ≤ 0.05。

结果

我们发现,孕龄与静脉导管、颈项透明层、人绒毛膜促性腺激素游离β亚基、妊娠相关血浆蛋白-A 和胎盘生长因子相关;流产史与鼻骨相关。此外,我们还将体重指数与颈项透明层、人绒毛膜促性腺激素游离β亚基和妊娠相关血浆蛋白-A 相关联。母亲年龄与人绒毛膜促性腺激素游离β亚基和妊娠相关血浆蛋白-A 相关。

结论

本研究首次在哥伦比亚的整倍体胎儿中描述了早孕期染色体病筛查的生化和超声标志物的表现。我们的信息与国际参考值一致。此外,我们还显示了不同变量与母体特征的相关性,以确定有助于开发高检出率的早孕期筛查过程的变量。