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Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.
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.
Afiliación
  • Shi M; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
  • Liauw AL; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
  • Tong S; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
  • Zheng Y; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
  • Leung TY; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
  • Chong SC; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center of Medical Genetics, Hong Kong, China.
  • Cao Y; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
  • Lau TK; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center of Medical Genetics, Hong Kong, China.
  • Choy KW; Department of Paediatrics, The Chinese University of Hong Kong, Hong Kong, China.
  • Chung JPW; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Genes (Basel) ; 12(4)2021 03 29.
Article en En | MEDLINE | ID: mdl-33805278
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Reproducción / Aberraciones Cromosómicas / Pueblo Asiatico / Implementación de Plan de Salud / Enfermedades Genéticas Congénitas / Tamización de Portadores Genéticos Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies / Sysrev_observational_studies Aspecto: Implementation_research Límite: Adult / Female / Humans / Male / Pregnancy País/Región como asunto: Asia Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Reproducción / Aberraciones Cromosómicas / Pueblo Asiatico / Implementación de Plan de Salud / Enfermedades Genéticas Congénitas / Tamización de Portadores Genéticos Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies / Sysrev_observational_studies Aspecto: Implementation_research Límite: Adult / Female / Humans / Male / Pregnancy País/Región como asunto: Asia Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza