Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.
Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.
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DOI：
10.3390/genes12040496
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发表时间：
2021-03-29
期刊：
影响因子：
3.5
通讯作者：
Chung JPW
中科院分区：
文献类型：
--
作者：
Shi M;Liauw AL;Tong S;Zheng Y;Leung TY;Chong SC;Cao Y;Lau TK;Choy KW;Chung JPW
对扩大携带者筛查（ECS）的需求正在增长，ECS正在成为产科实践和生殖计划的重要组成部分。本研究的目的是评估小规模ECS在临床实施的可行性，并调查中国夫妇对ECS的态度。对16孕周以下的中国孕妇提供了一个包含11种隐性疾病的ECS面板。建议对携带者阳性的妇女进行伴侣的连续检测。调查高危夫妇的生育决策和妊娠结局。1321例成功进行ECS，总携带率为19.23%。估计的风险夫妇率为0.83%。在不到一半的男性伴侣中进行了序贯测试。八对高危夫妇被确定，其中四人进行产前诊断。我们的研究表明，当个体疾病的携带率等于或大于1%时，小尺寸ECS面板可以产生与大尺寸面板相当的临床价值。此外，超过一半的妻子是携带者的男性伴侣拒绝接受任何类型的连续检测，这可能是由于缺乏对遗传疾病的认识和知识。遗传教育是更好地实施ECS的必要条件。
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.
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影响因子：
8.8
作者：
Guo, Michael H.;Gregg, Anthony R.
通讯作者：
Gregg, Anthony R.
影响因子：
3.9
作者：
Simonetti, Leandro;Bruque, Carlos D.;Dain, Liliana
通讯作者：
Dain, Liliana
影响因子：
158.5
作者：
Lau, YL;Chan, LC;Chui, DHK
通讯作者：
Chui, DHK
DOI：
10.1038/ejhg.2015.271
发表时间：
2016-06
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
Henneman L;Borry P;Chokoshvili D;Cornel MC;van El CG;Forzano F;Hall A;Howard HC;Janssens S;Kayserili H;Lakeman P;Lucassen A;Metcalfe SA;Vidmar L;de Wert G;Dondorp WJ;Peterlin B
通讯作者：
Peterlin B
DOI：
10.1371/4f9877ab8ffa9
发表时间：
2012-05-02
期刊：
PLoS currents
影响因子：
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作者：
Kingsmore S
通讯作者：
Kingsmore S