Clinical application value of expanded carrier screening in the population of childbearing age

Objective The objective of this study was to explore the clinical utility of the implementation of expanded carrier screening (ECS) in Chinese population of childbearing age. Materials and methods Based on capillary electrophoresis, a first-generation sequencing technology, a prospective screening s...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Fang, Yuqin [verfasserIn] Li, Jingran Zhang, Miaomiao Cheng, Yuan Wang, Chaohong Zhu, Jiansheng

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2023

Schlagwörter:	Expanded carrier screening Genetic disease Gene Variant

Anmerkung:	© The Author(s) 2023

Übergeordnetes Werk:	Enthalten in: European journal of medical research - London : BioMed Central, 2000, 28(2023), 1 vom: 08. Apr.
Übergeordnetes Werk:	volume:28 ; year:2023 ; number:1 ; day:08 ; month:04

Links:	Volltext

DOI / URN:	10.1186/s40001-023-01112-8

Katalog-ID:	SPR049989529

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520			\|a Objective The objective of this study was to explore the clinical utility of the implementation of expanded carrier screening (ECS) in Chinese population of childbearing age. Materials and methods Based on capillary electrophoresis, a first-generation sequencing technology, a prospective screening study of carriers of 15 single-gene diseases was carried out in 327 subjects in Anhui Province, including 84 couples and 159 women of childbearing age, the disease carrier rate, types of screened pathogenic genes, and incidence of both partners carrying the same pathogenic genes were summarized and analyzed. Results In 320 people with normal phenotypes who underwent ECS for 15 genetic diseases and 7 spouses who underwent targeted gene sequencing, 65 carriers of at least one disease were detected, with a total carrier rate of 20.31% (65/320). Among the 65 carriers, 81.54% (53/65) carried one genetic variant, 16.92% (11/65) carried two genetic variants, and 1.54% (1/65) carried three genetic variants. In this study, the three diseases with the highest carrier rates were hereditary deafness (8.13%, 26/320), Wilson's disease (4.06%, 13/320), and phenylketonuria (3.13%, 10/320). One high-risk couple (1.19%, 1/84) was detected. Conclusions It has certain clinical application value to implement ECS in the population of childbearing age in China.
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allfields	10.1186/s40001-023-01112-8 doi (DE-627)SPR049989529 (SPR)s40001-023-01112-8-e DE-627 ger DE-627 rakwb eng Fang, Yuqin verfasserin aut Clinical application value of expanded carrier screening in the population of childbearing age 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Objective The objective of this study was to explore the clinical utility of the implementation of expanded carrier screening (ECS) in Chinese population of childbearing age. Materials and methods Based on capillary electrophoresis, a first-generation sequencing technology, a prospective screening study of carriers of 15 single-gene diseases was carried out in 327 subjects in Anhui Province, including 84 couples and 159 women of childbearing age, the disease carrier rate, types of screened pathogenic genes, and incidence of both partners carrying the same pathogenic genes were summarized and analyzed. Results In 320 people with normal phenotypes who underwent ECS for 15 genetic diseases and 7 spouses who underwent targeted gene sequencing, 65 carriers of at least one disease were detected, with a total carrier rate of 20.31% (65/320). Among the 65 carriers, 81.54% (53/65) carried one genetic variant, 16.92% (11/65) carried two genetic variants, and 1.54% (1/65) carried three genetic variants. In this study, the three diseases with the highest carrier rates were hereditary deafness (8.13%, 26/320), Wilson's disease (4.06%, 13/320), and phenylketonuria (3.13%, 10/320). One high-risk couple (1.19%, 1/84) was detected. Conclusions It has certain clinical application value to implement ECS in the population of childbearing age in China. Expanded carrier screening (dpeaa)DE-He213 Genetic disease (dpeaa)DE-He213 Gene (dpeaa)DE-He213 Variant (dpeaa)DE-He213 Li, Jingran aut Zhang, Miaomiao aut Cheng, Yuan aut Wang, Chaohong aut Zhu, Jiansheng aut Enthalten in European journal of medical research London : BioMed Central, 2000 28(2023), 1 vom: 08. Apr. (DE-627)375977775 (DE-600)2129989-4 2047-783X nnns volume:28 year:2023 number:1 day:08 month:04 https://dx.doi.org/10.1186/s40001-023-01112-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 28 2023 1 08 04
spelling	10.1186/s40001-023-01112-8 doi (DE-627)SPR049989529 (SPR)s40001-023-01112-8-e DE-627 ger DE-627 rakwb eng Fang, Yuqin verfasserin aut Clinical application value of expanded carrier screening in the population of childbearing age 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Objective The objective of this study was to explore the clinical utility of the implementation of expanded carrier screening (ECS) in Chinese population of childbearing age. Materials and methods Based on capillary electrophoresis, a first-generation sequencing technology, a prospective screening study of carriers of 15 single-gene diseases was carried out in 327 subjects in Anhui Province, including 84 couples and 159 women of childbearing age, the disease carrier rate, types of screened pathogenic genes, and incidence of both partners carrying the same pathogenic genes were summarized and analyzed. Results In 320 people with normal phenotypes who underwent ECS for 15 genetic diseases and 7 spouses who underwent targeted gene sequencing, 65 carriers of at least one disease were detected, with a total carrier rate of 20.31% (65/320). Among the 65 carriers, 81.54% (53/65) carried one genetic variant, 16.92% (11/65) carried two genetic variants, and 1.54% (1/65) carried three genetic variants. In this study, the three diseases with the highest carrier rates were hereditary deafness (8.13%, 26/320), Wilson's disease (4.06%, 13/320), and phenylketonuria (3.13%, 10/320). One high-risk couple (1.19%, 1/84) was detected. Conclusions It has certain clinical application value to implement ECS in the population of childbearing age in China. Expanded carrier screening (dpeaa)DE-He213 Genetic disease (dpeaa)DE-He213 Gene (dpeaa)DE-He213 Variant (dpeaa)DE-He213 Li, Jingran aut Zhang, Miaomiao aut Cheng, Yuan aut Wang, Chaohong aut Zhu, Jiansheng aut Enthalten in European journal of medical research London : BioMed Central, 2000 28(2023), 1 vom: 08. Apr. (DE-627)375977775 (DE-600)2129989-4 2047-783X nnns volume:28 year:2023 number:1 day:08 month:04 https://dx.doi.org/10.1186/s40001-023-01112-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 28 2023 1 08 04
allfields_unstemmed	10.1186/s40001-023-01112-8 doi (DE-627)SPR049989529 (SPR)s40001-023-01112-8-e DE-627 ger DE-627 rakwb eng Fang, Yuqin verfasserin aut Clinical application value of expanded carrier screening in the population of childbearing age 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Objective The objective of this study was to explore the clinical utility of the implementation of expanded carrier screening (ECS) in Chinese population of childbearing age. Materials and methods Based on capillary electrophoresis, a first-generation sequencing technology, a prospective screening study of carriers of 15 single-gene diseases was carried out in 327 subjects in Anhui Province, including 84 couples and 159 women of childbearing age, the disease carrier rate, types of screened pathogenic genes, and incidence of both partners carrying the same pathogenic genes were summarized and analyzed. Results In 320 people with normal phenotypes who underwent ECS for 15 genetic diseases and 7 spouses who underwent targeted gene sequencing, 65 carriers of at least one disease were detected, with a total carrier rate of 20.31% (65/320). Among the 65 carriers, 81.54% (53/65) carried one genetic variant, 16.92% (11/65) carried two genetic variants, and 1.54% (1/65) carried three genetic variants. In this study, the three diseases with the highest carrier rates were hereditary deafness (8.13%, 26/320), Wilson's disease (4.06%, 13/320), and phenylketonuria (3.13%, 10/320). One high-risk couple (1.19%, 1/84) was detected. Conclusions It has certain clinical application value to implement ECS in the population of childbearing age in China. Expanded carrier screening (dpeaa)DE-He213 Genetic disease (dpeaa)DE-He213 Gene (dpeaa)DE-He213 Variant (dpeaa)DE-He213 Li, Jingran aut Zhang, Miaomiao aut Cheng, Yuan aut Wang, Chaohong aut Zhu, Jiansheng aut Enthalten in European journal of medical research London : BioMed Central, 2000 28(2023), 1 vom: 08. Apr. (DE-627)375977775 (DE-600)2129989-4 2047-783X nnns volume:28 year:2023 number:1 day:08 month:04 https://dx.doi.org/10.1186/s40001-023-01112-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 28 2023 1 08 04
allfieldsGer	10.1186/s40001-023-01112-8 doi (DE-627)SPR049989529 (SPR)s40001-023-01112-8-e DE-627 ger DE-627 rakwb eng Fang, Yuqin verfasserin aut Clinical application value of expanded carrier screening in the population of childbearing age 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Objective The objective of this study was to explore the clinical utility of the implementation of expanded carrier screening (ECS) in Chinese population of childbearing age. Materials and methods Based on capillary electrophoresis, a first-generation sequencing technology, a prospective screening study of carriers of 15 single-gene diseases was carried out in 327 subjects in Anhui Province, including 84 couples and 159 women of childbearing age, the disease carrier rate, types of screened pathogenic genes, and incidence of both partners carrying the same pathogenic genes were summarized and analyzed. Results In 320 people with normal phenotypes who underwent ECS for 15 genetic diseases and 7 spouses who underwent targeted gene sequencing, 65 carriers of at least one disease were detected, with a total carrier rate of 20.31% (65/320). Among the 65 carriers, 81.54% (53/65) carried one genetic variant, 16.92% (11/65) carried two genetic variants, and 1.54% (1/65) carried three genetic variants. In this study, the three diseases with the highest carrier rates were hereditary deafness (8.13%, 26/320), Wilson's disease (4.06%, 13/320), and phenylketonuria (3.13%, 10/320). One high-risk couple (1.19%, 1/84) was detected. Conclusions It has certain clinical application value to implement ECS in the population of childbearing age in China. Expanded carrier screening (dpeaa)DE-He213 Genetic disease (dpeaa)DE-He213 Gene (dpeaa)DE-He213 Variant (dpeaa)DE-He213 Li, Jingran aut Zhang, Miaomiao aut Cheng, Yuan aut Wang, Chaohong aut Zhu, Jiansheng aut Enthalten in European journal of medical research London : BioMed Central, 2000 28(2023), 1 vom: 08. Apr. (DE-627)375977775 (DE-600)2129989-4 2047-783X nnns volume:28 year:2023 number:1 day:08 month:04 https://dx.doi.org/10.1186/s40001-023-01112-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 28 2023 1 08 04
allfieldsSound	10.1186/s40001-023-01112-8 doi (DE-627)SPR049989529 (SPR)s40001-023-01112-8-e DE-627 ger DE-627 rakwb eng Fang, Yuqin verfasserin aut Clinical application value of expanded carrier screening in the population of childbearing age 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Objective The objective of this study was to explore the clinical utility of the implementation of expanded carrier screening (ECS) in Chinese population of childbearing age. Materials and methods Based on capillary electrophoresis, a first-generation sequencing technology, a prospective screening study of carriers of 15 single-gene diseases was carried out in 327 subjects in Anhui Province, including 84 couples and 159 women of childbearing age, the disease carrier rate, types of screened pathogenic genes, and incidence of both partners carrying the same pathogenic genes were summarized and analyzed. Results In 320 people with normal phenotypes who underwent ECS for 15 genetic diseases and 7 spouses who underwent targeted gene sequencing, 65 carriers of at least one disease were detected, with a total carrier rate of 20.31% (65/320). Among the 65 carriers, 81.54% (53/65) carried one genetic variant, 16.92% (11/65) carried two genetic variants, and 1.54% (1/65) carried three genetic variants. In this study, the three diseases with the highest carrier rates were hereditary deafness (8.13%, 26/320), Wilson's disease (4.06%, 13/320), and phenylketonuria (3.13%, 10/320). One high-risk couple (1.19%, 1/84) was detected. Conclusions It has certain clinical application value to implement ECS in the population of childbearing age in China. Expanded carrier screening (dpeaa)DE-He213 Genetic disease (dpeaa)DE-He213 Gene (dpeaa)DE-He213 Variant (dpeaa)DE-He213 Li, Jingran aut Zhang, Miaomiao aut Cheng, Yuan aut Wang, Chaohong aut Zhu, Jiansheng aut Enthalten in European journal of medical research London : BioMed Central, 2000 28(2023), 1 vom: 08. Apr. (DE-627)375977775 (DE-600)2129989-4 2047-783X nnns volume:28 year:2023 number:1 day:08 month:04 https://dx.doi.org/10.1186/s40001-023-01112-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 28 2023 1 08 04
language	English
source	Enthalten in European journal of medical research 28(2023), 1 vom: 08. Apr. volume:28 year:2023 number:1 day:08 month:04
sourceStr	Enthalten in European journal of medical research 28(2023), 1 vom: 08. Apr. volume:28 year:2023 number:1 day:08 month:04
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Expanded carrier screening Genetic disease Gene Variant
isfreeaccess_bool	true
container_title	European journal of medical research
authorswithroles_txt_mv	Fang, Yuqin @@aut@@ Li, Jingran @@aut@@ Zhang, Miaomiao @@aut@@ Cheng, Yuan @@aut@@ Wang, Chaohong @@aut@@ Zhu, Jiansheng @@aut@@
publishDateDaySort_date	2023-04-08T00:00:00Z
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Materials and methods Based on capillary electrophoresis, a first-generation sequencing technology, a prospective screening study of carriers of 15 single-gene diseases was carried out in 327 subjects in Anhui Province, including 84 couples and 159 women of childbearing age, the disease carrier rate, types of screened pathogenic genes, and incidence of both partners carrying the same pathogenic genes were summarized and analyzed. Results In 320 people with normal phenotypes who underwent ECS for 15 genetic diseases and 7 spouses who underwent targeted gene sequencing, 65 carriers of at least one disease were detected, with a total carrier rate of 20.31% (65/320). Among the 65 carriers, 81.54% (53/65) carried one genetic variant, 16.92% (11/65) carried two genetic variants, and 1.54% (1/65) carried three genetic variants. In this study, the three diseases with the highest carrier rates were hereditary deafness (8.13%, 26/320), Wilson's disease (4.06%, 13/320), and phenylketonuria (3.13%, 10/320). One high-risk couple (1.19%, 1/84) was detected. 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author	Fang, Yuqin
spellingShingle	Fang, Yuqin misc Expanded carrier screening misc Genetic disease misc Gene misc Variant Clinical application value of expanded carrier screening in the population of childbearing age
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topic_title	Clinical application value of expanded carrier screening in the population of childbearing age Expanded carrier screening (dpeaa)DE-He213 Genetic disease (dpeaa)DE-He213 Gene (dpeaa)DE-He213 Variant (dpeaa)DE-He213
topic	misc Expanded carrier screening misc Genetic disease misc Gene misc Variant
topic_unstemmed	misc Expanded carrier screening misc Genetic disease misc Gene misc Variant
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title	Clinical application value of expanded carrier screening in the population of childbearing age
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title_full	Clinical application value of expanded carrier screening in the population of childbearing age
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author_browse	Fang, Yuqin Li, Jingran Zhang, Miaomiao Cheng, Yuan Wang, Chaohong Zhu, Jiansheng
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author-letter	Fang, Yuqin
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title_sort	clinical application value of expanded carrier screening in the population of childbearing age
title_auth	Clinical application value of expanded carrier screening in the population of childbearing age
abstract	Objective The objective of this study was to explore the clinical utility of the implementation of expanded carrier screening (ECS) in Chinese population of childbearing age. Materials and methods Based on capillary electrophoresis, a first-generation sequencing technology, a prospective screening study of carriers of 15 single-gene diseases was carried out in 327 subjects in Anhui Province, including 84 couples and 159 women of childbearing age, the disease carrier rate, types of screened pathogenic genes, and incidence of both partners carrying the same pathogenic genes were summarized and analyzed. Results In 320 people with normal phenotypes who underwent ECS for 15 genetic diseases and 7 spouses who underwent targeted gene sequencing, 65 carriers of at least one disease were detected, with a total carrier rate of 20.31% (65/320). Among the 65 carriers, 81.54% (53/65) carried one genetic variant, 16.92% (11/65) carried two genetic variants, and 1.54% (1/65) carried three genetic variants. In this study, the three diseases with the highest carrier rates were hereditary deafness (8.13%, 26/320), Wilson's disease (4.06%, 13/320), and phenylketonuria (3.13%, 10/320). One high-risk couple (1.19%, 1/84) was detected. Conclusions It has certain clinical application value to implement ECS in the population of childbearing age in China. © The Author(s) 2023
abstractGer	Objective The objective of this study was to explore the clinical utility of the implementation of expanded carrier screening (ECS) in Chinese population of childbearing age. Materials and methods Based on capillary electrophoresis, a first-generation sequencing technology, a prospective screening study of carriers of 15 single-gene diseases was carried out in 327 subjects in Anhui Province, including 84 couples and 159 women of childbearing age, the disease carrier rate, types of screened pathogenic genes, and incidence of both partners carrying the same pathogenic genes were summarized and analyzed. Results In 320 people with normal phenotypes who underwent ECS for 15 genetic diseases and 7 spouses who underwent targeted gene sequencing, 65 carriers of at least one disease were detected, with a total carrier rate of 20.31% (65/320). Among the 65 carriers, 81.54% (53/65) carried one genetic variant, 16.92% (11/65) carried two genetic variants, and 1.54% (1/65) carried three genetic variants. In this study, the three diseases with the highest carrier rates were hereditary deafness (8.13%, 26/320), Wilson's disease (4.06%, 13/320), and phenylketonuria (3.13%, 10/320). One high-risk couple (1.19%, 1/84) was detected. Conclusions It has certain clinical application value to implement ECS in the population of childbearing age in China. © The Author(s) 2023
abstract_unstemmed	Objective The objective of this study was to explore the clinical utility of the implementation of expanded carrier screening (ECS) in Chinese population of childbearing age. Materials and methods Based on capillary electrophoresis, a first-generation sequencing technology, a prospective screening study of carriers of 15 single-gene diseases was carried out in 327 subjects in Anhui Province, including 84 couples and 159 women of childbearing age, the disease carrier rate, types of screened pathogenic genes, and incidence of both partners carrying the same pathogenic genes were summarized and analyzed. Results In 320 people with normal phenotypes who underwent ECS for 15 genetic diseases and 7 spouses who underwent targeted gene sequencing, 65 carriers of at least one disease were detected, with a total carrier rate of 20.31% (65/320). Among the 65 carriers, 81.54% (53/65) carried one genetic variant, 16.92% (11/65) carried two genetic variants, and 1.54% (1/65) carried three genetic variants. In this study, the three diseases with the highest carrier rates were hereditary deafness (8.13%, 26/320), Wilson's disease (4.06%, 13/320), and phenylketonuria (3.13%, 10/320). One high-risk couple (1.19%, 1/84) was detected. Conclusions It has certain clinical application value to implement ECS in the population of childbearing age in China. © The Author(s) 2023
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title_short	Clinical application value of expanded carrier screening in the population of childbearing age
url	https://dx.doi.org/10.1186/s40001-023-01112-8
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author2	Li, Jingran Zhang, Miaomiao Cheng, Yuan Wang, Chaohong Zhu, Jiansheng
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Clinical application value of expanded carrier screening in the population of childbearing age

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