Paz Y Miño Fernanda, Martinez-Portilla Raigam Jafet, Pauta Montse, Borrell Antoni
Fetal Medicine Research Center, BCNatal - Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Deu), Institut Clínic de Ginecologia, Obstetricia i Neonatologia, Universitat de Barcelona, Barcelona, Spain.
Prenatal Diagnosis Unit, Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona, Spain.
Front Genet. 2020 Nov 9;11:561283. doi: 10.3389/fgene.2020.561283. eCollection 2020.
To assess the impact of prenatal genetic counseling on the attitudes and preferences toward invasive testing in first-trimester pregnant women.
This is a randomized open-label study, of pregnant women undergoing first trimester combined screening for aneuploidies. Women were divided into the experimental or control groups in a 1:1 design. The intervention consisted of 15-min extra counseling about prenatal screening and diagnosis. The main outcome was the desire to choose an invasive testing as their first prenatal testing option which was measured as absolute risk.
After excluding those with incomplete data, 75 women remained in the experimental group and 75 as controls. Women receiving counseling were 32% more likely to choose an invasive prenatal testing as their first-line option after extra 15-min extensive counseling, reducing the first-trimester combined screening by 20% and the cell-free DNA by 12%. If given the opportunity, 59% of the women would like to be able to choose the prenatal test that suits their needs.
Women given an extensive prenatal counseling are more likely to choose an invasive testing as their first-line test in spite of the concerning risks.
www.ClinicalTrials.gov, identifier NCT04119349.
评估产前遗传咨询对孕早期孕妇接受侵入性检测的态度和偏好的影响。
这是一项针对接受孕早期非整倍体联合筛查的孕妇的随机开放标签研究。孕妇按1:1的比例分为实验组或对照组。干预措施包括额外15分钟的产前筛查和诊断咨询。主要结果是选择侵入性检测作为其首选产前检测选项的意愿,以绝对风险衡量。
在排除数据不完整的受试者后,实验组有75名女性,对照组有75名女性。接受咨询的女性在额外15分钟的详细咨询后,选择侵入性产前检测作为一线选项的可能性增加了32%,将孕早期联合筛查的选择率降低了20%,将游离DNA检测的选择率降低了12%。如果有机会,59%的女性希望能够选择适合自己需求的产前检测。
尽管存在相关风险,但接受详细产前咨询的女性更有可能选择侵入性检测作为其一线检测。