Van den Veyver Ignatia B
Department of Obstetrics and Gynecology and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
F1000Res. 2016 Oct 28;5:2591. doi: 10.12688/f1000research.9215.1. eCollection 2016.
The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively. All of these options have benefits and limitations, and genetic counseling has become increasingly complex for providers who are responsible for guiding patients in their decisions about screening and testing before and during pregnancy.
新技术的引入极大地改变了当前胎儿基因异常的产前筛查和检测实践。扩展的携带者筛查面板以及基于无细胞胎儿DNA的非侵入性筛查非整倍体和单基因疾病，最近还用于亚染色体异常的筛查，已被引入产前护理。最近引入的技术，如染色体微阵列分析和全外显子测序，可以对通过羊膜穿刺术或绒毛取样获得的样本诊断更多的基因疾病，包括许多无法通过非侵入性方法筛查的疾病。所有这些选择都有其益处和局限性，对于负责指导患者在怀孕前和怀孕期间进行筛查和检测决策的医疗服务提供者来说，遗传咨询变得越来越复杂。
