Author:
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.
Abstract
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.
Funder
The Chinese University of Hong Kong-Baylor College of Medicine Joint Center of Medical Genetics
Subject
Genetics (clinical),Genetics
Cited by
7 articles.
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