Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Semin Fetal Neonatal Med. 2018 Apr;23(2):142-149. doi: 10.1016/j.siny.2017.11.010. Epub 2017 Dec 8.
Genomic technologies are now being applied to reproductive genetic screening. Circulating cell-free DNA testing in pregnancy for fetal chromosomal abnormalities is becoming more widely used as a screening test, and expanded carrier screening for autosomal and X-linked recessive conditions for more than a hundred conditions is available to couples for testing before and during pregnancy. These are most typically available as a commercial test. The purpose of reproductive genetic screening is to facilitate autonomous reproductive choices. Previous studies would suggest that many women do not make informed decisions about prenatal genetic screening, and the introduction of genomic technologies has generally added to the ethical debate. Appropriate pre-test genetic counselling is recommended, and healthcare providers should include information that is balanced, accurate and up-to-date, comprising written and/or e-learning tools, as well as providing psychosocial support so that couples consider the pros and cons of being tested and can make informed decisions.
基因组学技术目前正被应用于生殖遗传筛查。妊娠时通过检测循环无细胞胎儿游离 DNA 来筛查胎儿染色体异常的方法已被广泛应用，同时还可以对夫妇进行多种常染色体隐性和 X 连锁隐性疾病的扩展性携带者筛查。这些检测通常作为商业检测提供。生殖遗传筛查的目的是促进自主的生殖选择。以往的研究表明，许多女性并未对产前遗传筛查做出知情决策，而基因组学技术的引入通常会增加伦理争议。建议进行适当的产前遗传咨询，医疗保健提供者应提供平衡、准确和最新的信息，包括书面和/或电子学习工具，并提供社会心理支持，以便夫妇考虑检测的利弊，从而做出知情决策。
