Clinical implications and implementation strategies of expanded carrier screening combined with PGT
10.3760/cma.j.cn101441-20220910-00394
- VernacularTitle:扩展性携带者筛查结合PGT的临床应用意义和实施策略
- Author:
Ningyuan ZHANG
1
;
Haixiang SUN
1
Author Information
1. 南京大学医学院附属鼓楼医院生殖医学和妇产医学中心 南京大学分子生殖医学中心，南京 210008
- Publication Type:Journal Article
- Keywords:
Genetic carrier screening;
Genetic testing;
Reproductive techniques
- From:
Chinese Journal of Reproduction and Contraception
2022;42(11):1142-1145
- CountryChina
- Language:Chinese
-
Abstract:
Advances in genetic testing field have contributed to the boom in carrier screening technology. Expanded carrier screening can effectively identify more high-risk couples than traditional guideline-based carrier screening. The introduction of extended carrier screening has increased the number of referrals for preimplantation genetic testing (PGT) for monogenic disease and enriched the types of disease diagnosed. Expanded carrier screening combined with PGT technology is changing the clinical strategy of genetic risk assessment and preventing birth defects by accurately identifying reproductive risk information and rationalizing fertility planning.
