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Eur J Hum Genet. 2019 Feb;27(2):254-262. doi: 10.1038/s41431-018-0253-9. Epub 2018 Oct 1.

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

Zhao S1,2, Xiang J3, Fan C1,2, Asan1,2, Shang X4, Zhang X5, Chen Y6, Zhu B7, Cai W8, Chen S9, Cai R10, Guo X11, Zhang C12, Zhou Y13, Huang S14, Liu Y15, Chen B16, Yan S17, Chen Y18, Ding H19, Guo F1,2, Wang Y1,2, Zhong W1,2, Zhu Y1,2, Wang Y1,2, Chen C1,2, Li Y20, Huang H3, Mao M3, Yin Y3, Wang J21,22, Yang H21,22, Xu X4, Sun J23,24, Peng Z25,26.

Author information

1
Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China.
2
Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China.
3
BGI Genomics, BGI-Shenzhen, 518083, Shenzhen, China.
4
Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, 510515, Guangzhou, Guangdong, China.
5
Department of Hematology, 303rd Hospital of the People's Liberation Army, Nanning, Guangxi, China.
6
The Second Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi, Guizhou, China.
7
Nation Health and Family Planning Commission Key Laboratory For Preconception and Health Birth in Western China, The First People's Hospital of Yunnan Province, Kunming University of Science and Technology, Kunming, China.
8
Department of Biochemistry and Molecular Biology, Hainan Medical College, Haikou, Hainan, China.
9
Department of Genetic and Metabolic Laboratory, Guangxi Zhuang Autonomous Region Women and Children Health Care Hospital, Nanning, Guangxi, China.
10
Department of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China.
11
Maternity and Child Health Care Hospital of Foshan City, Foshan, Guangdong, China.
12
Guilin Women and Children Health Care Hospital, Guilin, Guangxi, China.
13
Department of Clinical Laboratory, Zhuhai Municipal Maternal and Child Healthcare Hospital, Zhuhai Institute of Medical Genetics, Zhuhai, Guangdong, China.
14
Maternal and Child Health Hospital in Meizhou, Meizhou, Guangdong, China.
15
Department of Prenatal Diagnosis Center, Dong Guan Maternal and Child Health Hospital, Dongguan, Guangdong, China.
16
Baise Women and Children Care Hospital, Baise, Guangxi, China.
17
Genetic Laboratory, Qinzhou Maternal and Child Health Hospital, Qingzhou, Guangxi, China.
18
Women and Children's Health Hospital of Shaoguan, Shaoguan, Guangdong, China.
19
Department of Gynecology and Obstetrics, The People's Hospital of Yunfu City, Yunfu, Guangdong, China.
20
BGI Clinical Laboratories-Shenzhen, BGI-Shenzhen, 518083, Shenzhen, China.
21
James D. Watson Institute of Genome Sciences, 310058, Hangzhou, China.
22
BGI-Shenzhen, 518083, Shenzhen, China.
23
Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China. sunjun@bgi.com.
24
Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China. sunjun@bgi.com.
25
BGI Genomics, BGI-Shenzhen, 518083, Shenzhen, China. pengzhiyu@bgi.com.
26
BGI-Guangzhou Medical Laboratory, BGI-Shenzhen, 510006, Guangzhou, China. pengzhiyu@bgi.com.

Abstract

Expanded carrier screening (ECS) has been demonstrated to increase the detection rate of carriers compared with traditional tests. The aim of this study was to assess the potential value of ECS for clinical application in Southern China, a region with high prevalence of thalassemia and with diverse ethnic groups, and to provide a reference for future implementations in areas with similar population characteristics. A total of 10,476 prenatal/preconception couples from 34 self-reported ethnic groups were simultaneously tested and analyzed anonymously for 11 Mendelian disorders using targeted next-generation sequencing. Overall, 27.49% of individuals without self-reported family history of disorders were found to be carriers of at least 1 of the 11 conditions, and the carrier frequency varied greatly between ethnic groups, ranging from 4.15% to 81.35%. Furthermore, 255 couples (2.43%) were identified as carrier couples at an elevated risk having an affected baby, sixty-five of which would not have been identified through the existing screening strategy, which only detects thalassemia. The modeled risk of fetuses being affected by any of the selected disorders was 531 per 100,000 (95% CI, 497-567 per 100,000). Our data demonstrate the feasibility of ECS, and provide evidence that ECS is a promising alternative to traditional one-condition screening strategies. The lessons learned from this experience should be applicable for other countries or regions with diverse ethnic groups.

PMID:
30275481
PMCID:
PMC6336873
DOI:
10.1038/s41431-018-0253-9
[Indexed for MEDLINE]
Free PMC Article

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