Cargando…

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 toward...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8066122/
https://www.ncbi.nlm.nih.gov/pubmed/33805278
http://dx.doi.org/10.3390/genes12040496
_version_ 1783682500807098368
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.
author_facet 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.
author_sort Shi, Mengmeng
collection PubMed
description 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.
format Online
Article
Text
id pubmed-8066122
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-80661222021-04-25 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. Genes (Basel) Article 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. MDPI 2021-03-29 /pmc/articles/PMC8066122/ /pubmed/33805278 http://dx.doi.org/10.3390/genes12040496 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ).
spellingShingle Article
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.
Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study
title Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study
title_full Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study
title_fullStr Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study
title_full_unstemmed Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study
title_short Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study
title_sort clinical implementation of expanded carrier screening in pregnant women at early gestational weeks: a chinese cohort study
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8066122/
https://www.ncbi.nlm.nih.gov/pubmed/33805278
http://dx.doi.org/10.3390/genes12040496
work_keys_str_mv AT shimengmeng clinicalimplementationofexpandedcarrierscreeninginpregnantwomenatearlygestationalweeksachinesecohortstudy
AT liauwangelinelinna clinicalimplementationofexpandedcarrierscreeninginpregnantwomenatearlygestationalweeksachinesecohortstudy
AT tongsteve clinicalimplementationofexpandedcarrierscreeninginpregnantwomenatearlygestationalweeksachinesecohortstudy
AT zhengyu clinicalimplementationofexpandedcarrierscreeninginpregnantwomenatearlygestationalweeksachinesecohortstudy
AT leungtakyeung clinicalimplementationofexpandedcarrierscreeninginpregnantwomenatearlygestationalweeksachinesecohortstudy
AT chongshukching clinicalimplementationofexpandedcarrierscreeninginpregnantwomenatearlygestationalweeksachinesecohortstudy
AT caoye clinicalimplementationofexpandedcarrierscreeninginpregnantwomenatearlygestationalweeksachinesecohortstudy
AT lautzekin clinicalimplementationofexpandedcarrierscreeninginpregnantwomenatearlygestationalweeksachinesecohortstudy
AT choykwongwai clinicalimplementationofexpandedcarrierscreeninginpregnantwomenatearlygestationalweeksachinesecohortstudy
AT chungjacquelinepw clinicalimplementationofexpandedcarrierscreeninginpregnantwomenatearlygestationalweeksachinesecohortstudy