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Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China

Purpose: Expanded carrier screening (ECS) is an effective method to identify at-risk couples (ARCs) and avoid birth defects. This study aimed to reveal the carrier spectrum in the Chinese population and to delineate an expanded carrier gene panel suitable in China. Methods: Medical exome sequencing...

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Autores principales: Tong, Keya, He, Wenbin, He, Yao, Li, Xiurong, Hu, Liang, Hu, Hao, Lu, Guangxiu, Lin, Ge, Dong, Chang, Zhang, Victor Wei, Du, Juan, Liu, Dongyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441495/
https://www.ncbi.nlm.nih.gov/pubmed/36072675
http://dx.doi.org/10.3389/fgene.2022.943058
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author Tong, Keya
He, Wenbin
He, Yao
Li, Xiurong
Hu, Liang
Hu, Hao
Lu, Guangxiu
Lin, Ge
Dong, Chang
Zhang, Victor Wei
Du, Juan
Liu, Dongyun
author_facet Tong, Keya
He, Wenbin
He, Yao
Li, Xiurong
Hu, Liang
Hu, Hao
Lu, Guangxiu
Lin, Ge
Dong, Chang
Zhang, Victor Wei
Du, Juan
Liu, Dongyun
author_sort Tong, Keya
collection PubMed
description Purpose: Expanded carrier screening (ECS) is an effective method to identify at-risk couples (ARCs) and avoid birth defects. This study aimed to reveal the carrier spectrum in the Chinese population and to delineate an expanded carrier gene panel suitable in China. Methods: Medical exome sequencing (MES), including 4,158 disease-causing genes, was offered to couples at two reproductive centers. It was initially used as a diagnostic yield for potential patients and then used for ECS. Clinical information and ECS results were retrospectively collected. Results: A total of 2,234 couples, representing 4,468 individuals, underwent MES. In total, 254 individuals showed genetic disease symptoms, and 56 of them were diagnosed with genetic diseases by MES. Overall, 94.5% of them were carriers of at least one disease-causing variant. The most prevalent genes were GJB2 for autosomal recessive disorders and G6PD for X-linked diseases. The ARC rate was 9.80%, and couples were inclined to undergo preimplantation genetic testing when diseases were classified as “profound” or “severe.” Conclusion: This study provided insight to establish a suitable ECS gene panel for the Chinese population. Disease severity significantly influenced reproductive decision-making. The results highlighted the importance of conducting ECS for couples before undergoing assisted reproductive technology.
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spelling pubmed-94414952022-09-06 Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China Tong, Keya He, Wenbin He, Yao Li, Xiurong Hu, Liang Hu, Hao Lu, Guangxiu Lin, Ge Dong, Chang Zhang, Victor Wei Du, Juan Liu, Dongyun Front Genet Genetics Purpose: Expanded carrier screening (ECS) is an effective method to identify at-risk couples (ARCs) and avoid birth defects. This study aimed to reveal the carrier spectrum in the Chinese population and to delineate an expanded carrier gene panel suitable in China. Methods: Medical exome sequencing (MES), including 4,158 disease-causing genes, was offered to couples at two reproductive centers. It was initially used as a diagnostic yield for potential patients and then used for ECS. Clinical information and ECS results were retrospectively collected. Results: A total of 2,234 couples, representing 4,468 individuals, underwent MES. In total, 254 individuals showed genetic disease symptoms, and 56 of them were diagnosed with genetic diseases by MES. Overall, 94.5% of them were carriers of at least one disease-causing variant. The most prevalent genes were GJB2 for autosomal recessive disorders and G6PD for X-linked diseases. The ARC rate was 9.80%, and couples were inclined to undergo preimplantation genetic testing when diseases were classified as “profound” or “severe.” Conclusion: This study provided insight to establish a suitable ECS gene panel for the Chinese population. Disease severity significantly influenced reproductive decision-making. The results highlighted the importance of conducting ECS for couples before undergoing assisted reproductive technology. Frontiers Media S.A. 2022-08-22 /pmc/articles/PMC9441495/ /pubmed/36072675 http://dx.doi.org/10.3389/fgene.2022.943058 Text en Copyright © 2022 Tong, He, He, Li, Hu, Hu, Lu, Lin, Dong, Zhang, Du and Liu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Tong, Keya
He, Wenbin
He, Yao
Li, Xiurong
Hu, Liang
Hu, Hao
Lu, Guangxiu
Lin, Ge
Dong, Chang
Zhang, Victor Wei
Du, Juan
Liu, Dongyun
Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China
title Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China
title_full Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China
title_fullStr Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China
title_full_unstemmed Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China
title_short Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China
title_sort clinical utility of medical exome sequencing: expanded carrier screening for patients seeking assisted reproductive technology in china
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441495/
https://www.ncbi.nlm.nih.gov/pubmed/36072675
http://dx.doi.org/10.3389/fgene.2022.943058
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