Lazarin Gabriel A, Goldberg James D
Counsyl, South San Francisco, California, USA.
Curr Opin Obstet Gynecol. 2016 Apr;28(2):136-41. doi: 10.1097/GCO.0000000000000256.
Expanded carrier screening, which detects carriers for a large number of autosomal recessive and X-linked diseases, is increasing in clinical utilization. A recent joint statement from multiple professional societies, in addition to a growing literature base, offers perspective on rationale, decision points, and reasonable methods of implementation.
Current literature addresses three areas: pre- and posttest education, including optimal use of formal genetic counseling, and differing characteristics of laboratory tests. Surveys of obstetricians and genetics providers also offer insight into optimal practice methods.
We review the carrier screening process in chronological sequence - pretest, test selection, and posttest results disclosure - and points to be considered, recommending possible practice protocols based on available literature and our combined laboratory and clinical practice experience.
扩展携带者筛查可检测大量常染色体隐性和X连锁疾病的携带者，其在临床中的应用正在增加。多个专业学会最近发表的联合声明，以及不断增加的文献基础，为筛查的基本原理、决策要点和合理的实施方法提供了观点。
当前文献涉及三个领域：检测前和检测后的教育，包括正式遗传咨询的最佳使用，以及实验室检测的不同特点。对产科医生和遗传学提供者的调查也为最佳实践方法提供了见解。
我们按时间顺序回顾携带者筛查过程——检测前、检测选择和检测结果披露——以及需要考虑的要点，根据现有文献以及我们综合的实验室和临床实践经验推荐可能的实践方案。
