ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.
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Who cites it
56 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review.Human genomics · 2026Pooled it
- Expanded carrier screening in China: a focused narrative review and conceptual implementation framework.European journal of human genetics : EJHG · 2026Review
- Article
- Burden of heterozygote carriers for autosomal recessive conditions in the Middle East: A study of 14,392 genomes.HGG advances · 2026Article
- Population-scale genomic medicine with the Hong Kong Genome Project.Nature medicine · 2026Article
- Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders.Genome medicine · 2026Article
- Inherited burden for disease predisposition in diverse populations.NPJ genomic medicine · 2026Article
- Expanded Carrier Screening: Current Evidence and Future Directions in the Era of Population Genomics.Genes · 2026Review
- Article
- 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
- Expanding carrier screening: beyond the genes, to include underrepresented ancestries.NPJ genomic medicine · 2025Article
- Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.Annals of medicine · 2025Article
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.Journal of medical genetics · 2025Article
- Advancements in Prenatal Genetic Screening and Testing: Emerging Technologies and Evolving Applications.Diagnostics (Basel, Switzerland) · 2025Review
- A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screening.Data in brief · 2025Article
- Article
- Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China.Scientific reports · 2025Article
- Secondary Findings from Exome Sequencing of a Greek Cohort.Current issues in molecular biology · 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
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2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePrenatal genetic carrier screening can identify parents at risk of having a child affected by a recessive condition. However, the conditions/genes most appropriate for screening remain a matter of debate. Estimates of carrier rates across genes are needed to guide construction of carrier screening panels.
methodWe leveraged an exome sequencing database (n = 123,136) to estimate carrier rates across six major ancestries for 415 genes associated with severe recessive conditions.
resultsWe found that 32.6% (East Asian) to 62.9% (Ashkenazi Jewish) of individuals are variant carriers in at least one of the 415 genes. For couples, screening all 415 genes would identify 0.17-2.52% of couples as being at risk for having a child affected by one of these conditions. Screening just the 40 genes with carrier rate >1.0% would identify more than 76% of these at-risk couples. An ancestry-specific panel designed to capture genes with carrier rates >1.0% would include 5 to 28 genes, while a comparable panethnic panel would include 40 genes.
conclusionOur work guides the design of carrier screening panels and provides data to assist in counseling prospective parents. Our results highlight a high cumulative carrier rate across genes, underscoring the need for careful selection of genes for screening.
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