Department of Genetics, University of Alabama at Birmingham, 1720 2nd Avenue South, VH1L108B, Birmingham, AL 35294-0019, USA.
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Alabama at Birmingham, 1700 6th Avenue South, Women and Infants Center, 10270, Birmingham, AL 35249, USA.
Obstet Gynecol Clin North Am. 2023 Sep;50(3):493-507. doi: 10.1016/j.ogc.2023.03.005. Epub 2023 May 8.
The number of prenatal genetic screening options, including aneuploidy screening and carrier screening, has drastically increased with rapid advancements in DNA sequencing technologies. Noninvasive prenatal screening analyzing cell-free DNA has quickly been integrated into routine prenatal care as it is the most sensitive and specific screening method for pregnancies at increased and average risk of fetal aneuploidy. The aim of this article is to outline current recommendations for cell-free DNA screening and carrier screening, important aspects of pretest and posttest counseling for obstetric providers, and which patients should be referred to a genetic specialist.
随着 DNA 测序技术的快速发展,产前基因筛查选项的数量,包括非整倍体筛查和携带者筛查,已经大大增加。分析游离细胞 DNA 的非侵入性产前筛查已迅速纳入常规产前护理,因为它是对高风险和平均风险胎儿非整倍体妊娠最敏感和最特异的筛查方法。本文的目的是概述游离 DNA 筛查和携带者筛查的现行建议、为产科医生提供检测前和检测后咨询的重要方面,以及应将哪些患者转介给遗传专家。