Intermountain Healthcare, University of Utah Health Sciences, Intermountain Medical Center, Maternal Fetal Medicine, Salt Lake City, UT, USA.
Mayo Clinic, Rochester, MN, USA.
Semin Fetal Neonatal Med. 2018 Apr;23(2):78-84. doi: 10.1016/j.siny.2017.06.001. Epub 2017 Jun 29.
Screening for genetic disorders began in 1963 with the initiation of newborn screening for phenylketonuria. Advances in molecular technology have made both newborn screening for newborns affected with serious disorders, and carrier screening of individuals at risk for offspring with genetic disorders, more complex and more widely available. Carrier screening today can be performed secondary to family history-based screening, ethnic-based screening, and expanded carrier screening (ECS). ECS is panel-based screening, which analyzes carrier status for hundreds of genetic disorders irrespective of patient race or ethnicity. In this article, we review the historical and current aspects of carrier screening for single gene disorders, including future research directions.
遗传性疾病的筛查始于 1963 年，当时开始对苯丙酮尿症新生儿进行筛查。分子技术的进步使得对受严重疾病影响的新生儿进行新生儿筛查，以及对有遗传疾病子女风险的个体进行携带者筛查变得更加复杂和广泛。今天，携带者筛查可以基于家族史筛查、基于种族的筛查和扩展携带者筛查（ECS）进行。ECS 是基于面板的筛查，它分析了数百种遗传疾病的携带者状态，而不考虑患者的种族或民族。本文回顾了单基因疾病携带者筛查的历史和现状，包括未来的研究方向。
