ArticleJournal of genetic counseling2018
Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples.
Article in Journal of genetic counseling, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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
42 citing papers in PubMed, 1 synthesis or guideline pooled 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
- Burden of heterozygote carriers for autosomal recessive conditions in the Middle East: A study of 14,392 genomes.HGG advances · 2026Article
- Integrating preconception carrier screening into public health: lessons learned from a pilot implementation study.Journal of assisted reproduction and genetics · 2026Article
- Discrepant Results on Two Different Single Gene Non-invasive Prenatal Tests for Cystic Fibrosis: A Case Report.AJP reports · 2026Article
- Expanded Carrier Screening: Current Evidence and Future Directions in the Era of Population Genomics.Genes · 2026Review
- Review
- Expanding carrier screening: beyond the genes, to include underrepresented ancestries.NPJ genomic medicine · 2025Article
- Perceived utility of genetic carrier screening in a diverse patient population.Journal of genetic counseling · 2025Article
- Towards a patient-centred classification of genetic disease severity.European journal of human genetics : EJHG · 2025Article
- Turkish men's experiences of positive SMA carrier results: a qualitative study within a gendered screening framework.BMC public health · 2025Article
- Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening.European journal of human genetics : EJHG · 2025Article
- A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screening.Data in brief · 2025Article
- Article
- Prenatal genetic counseling challenges with indeterminate SMA results.Journal of genetic counseling · 2025Article
- Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD.European journal of human genetics : EJHG · 2025Review
- Clinical exome sequencing for carrier screening in assisted reproductive technology and sperm donation.Journal of assisted reproduction and genetics · 2025Article
- Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions.European journal of human genetics : EJHG · 2025Article
- Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0.American journal of human genetics · 2025Article
- Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.Scientific reports · 2024Article
- 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
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Expanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes to determine reproductive risk. Data on the clinical utility of screening conditions beyond professional guidelines are scarce. Individuals underwent ECS for up to 110 genes. Five-hundred thirty-seven at-risk couples (ARC), those in which both partners carry the same recessive disease, were invited to participate in a retrospective IRB-approved survey of their reproductive decision making after receiving ECS results. Sixty-four eligible ARC completed the survey. Of 45 respondents screened preconceptionally, 62% (n = 28) planned IVF with PGD or prenatal diagnosis (PNDx) in future pregnancies. Twenty-nine percent (n = 13) were not planning to alter reproductive decisions. The remaining 9% (n = 4) of responses were unclear. Of 19 pregnant respondents, 42% (n = 8) elected PNDx, 11% (n = 2) planned amniocentesis but miscarried, and 47% (n = 9) considered the condition insufficiently severe to warrant invasive testing. Of the 8 pregnancies that underwent PNDx, 5 were unaffected and 3 were affected. Two of 3 affected pregnancies were terminated. Disease severity was found to have significant association (p = 0.000145) with changes in decision making, whereas guideline status of diseases, controlled for severity, was not (p = 0.284). Most ARC altered reproductive planning, demonstrating the clinical utility of ECS. Severity of conditions factored into decision making.
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