Division of Clinical Genetics, Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Fertil Steril. 2018 Feb;109(2):183-189. doi: 10.1016/j.fertnstert.2017.11.030.
Expanded carrier screening refers to identification of carriers of single-gene disorders outside of traditional screening guidelines. New genetic testing technologies allow for such screening at costs that are comparable to single-gene testing. There is a high degree of variability among genetic testing laboratories as to the inclusion of different disorders, some of which have mild or unpredictable phenotypes. This review discusses the pros and cons of using expanded carrier screening in the preconceptional patient and reviews guidelines currently endorsed by professional organizations.
扩展携带者筛查是指在传统筛查指南之外，对单基因疾病携带者进行鉴定。新的基因检测技术使得这种筛查在成本上可以与单基因检测相媲美。不同的基因检测实验室在纳入不同疾病的范围上存在很大的差异，其中一些疾病的表型轻微或不可预测。本文讨论了在孕前患者中使用扩展携带者筛查的优缺点，并回顾了专业组织目前认可的指南。
