ArticleEuropean journal of human genetics : EJHG2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
37 citing papers in PubMed, 2 syntheses or guidelines pooled it, 59 citations in OpenAlex.
- Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.Orphanet journal of rare diseases · 2023Pooled it
- Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.Ontario health technology assessment series · 2023Pooled it
- Expanded carrier screening in China: a focused narrative review and conceptual implementation framework.European journal of human genetics : EJHG · 2026Review
- Recent Progress in Mechanism-Based Therapies forInternational journal of molecular sciences · 2026Review
- Clinical application value of preconception and prenatal carrier screening in Yinchuan.Frontiers in genetics · 2026Article
- Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System.Molecular genetics & genomic medicine · 2026Article
- Genetic diagnosis and molecular characterization of three novel variations in the phenylalanine hydroxylase gene from Chinese patients with phenylketonuria.EXCLI journal · 2026Article
- Preconception Care and Genetic Screening: A Global Review and Strategic Perspectives for Implementation in Bulgaria.Children (Basel, Switzerland) · 2025Review
- Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Clinical application of expanded carrier screening based on next-generation sequencing in the Chinese population.Archives of gynecology and obstetrics · 2025Article
- Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.Scientific reports · 2025Article
- Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China.Scientific reports · 2025Article
- Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome.Journal of translational medicine · 2025Article
- Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.Human genomics · 2024Article
- Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.BMC medical genomics · 2024Article
- [Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2024Article
- The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.Human genomics · 2024Article
- 206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China.Frontiers in genetics · 2024Article
- Populational pan-ethnic screening panel enabled by deep whole genome sequencing.NPJ genomic medicine · 2023Article
- Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.Journal of assisted reproduction and genetics · 2023Article
Corrections and comments
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Authors and funding
35 authors at 14 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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