ArticlePrenatal diagnosis2025
Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy.
Article in Prenatal diagnosis, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- Citywide premarital genomic screening in a Middle Eastern population.Nature medicine · 2026Article
- Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy.Prenatal diagnosis · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
Abstract
objectiveExpanded carrier screening (ECS) is used to assess the reproductive probability of having an offspring affected by an autosomal recessive or X-linked recessive genetic disorder. Rarely, a presumably healthy individual may be identified to carry variants that could influence their health. This study aimed to investigate the incidence of potentially affected individuals, with the objective of improving counseling for ECS.
methodsA retrospective study of a cohort of 3001 individuals who sought ECS during early pregnancy or preconception was conducted. Potentially affected individuals carrying biallelic pathogenic variants for autosomal recessive diseases, as well as females carrying a heterozygous pathogenic variant for X-linked disease, were identified.
resultsA total of 13 potentially affected individuals (0.43%) were identified; 5 patients were homozygous or compound heterozygous for autosomal recessive diseases, and 8 were heterozygous for X-linked diseases. The majority of the potentially affected individuals were asymptomatic (85%, 11/13) at the time of assessment. Only two patients exhibited mild clinical manifestations.
conclusionPeople who intend to undergo ECS should be informed that they themselves may be identified as potentially affected individuals for whom clinical evaluation and surveillance are recommended.
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Registered trials
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