Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study

Demands for expanded carrier screening (ECS) are growing and ECS is becoming an important part of obstetrics practice and reproductive planning. The aim of this study is to evaluate the feasibility of a small-size ECS panel in clinical implementation and investigate Chinese couples' attitudes t...

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Bibliographic Details
Published in:	Genes Vol. 12; no. 4; p. 496
Main Authors:	Shi, Mengmeng, Liauw, Angeline Linna, Tong, Steve, Zheng, Yu, Leung, Tak Yeung, Chong, Shuk Ching, Cao, Ye, Lau, Tze Kin, Choy, Kwong Wai, Chung, Jacqueline P W
Format:	Journal Article
Language:	English
Published:	Switzerland MDPI AG 29-03-2021 MDPI
Subjects:	Clinical medicine Cohort analysis Disease Fetuses Genes Genetic disorders Genetic screening Genomes Hemophilia Minority & ethnic groups Muscular dystrophy Obstetrics Population Prenatal diagnosis Womens health Hong Kong China Chinese Hong Kong expanded carrier screening recessive disorders
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Summary:	Demands for expanded carrier screening (ECS) are growing and ECS is becoming an important part of obstetrics practice and reproductive planning. The aim of this study is to evaluate the feasibility of a small-size ECS panel in clinical implementation and investigate Chinese couples' attitudes towards ECS. An ECS panel containing 11 recessive conditions was offered to Chinese pregnant women below 16 gestational weeks. Sequential testing of their partners was recommended for women with a positive carrier status. The reproductive decision and pregnancy outcome were surveyed for at-risk couples. A total of 1321 women performed ECS successfully and the overall carrier rate was 19.23%. The estimated at-risk couple rate was 0.83%. Sequential testing was performed in less than half of male partners. Eight at-risk couples were identified and four of them performed prenatal diagnosis. Our study demonstrated that a small-size ECS panel could yield comparable clinical value to a larger-size panel when the carrier rate of the individual condition is equal or greater than 1%. In addition, more than half of male partners whose wives were carriers declined any types of sequential testing possibly due to a lack of awareness and knowledge of genetic disorders. Genetic education is warranted for the better implementation of ECS.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 These authors contributed equally.
ISSN:	2073-4425 2073-4425
DOI:	10.3390/genes12040496