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Tytuł:
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Impact of mosaicism ratio on positive predictive value of cfDNA screening.
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Autorzy:
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Rafalko JM; Laboratory Corporation of America Holdings, Integrated Genetics, Westborough, Massachusetts, USA.
Caldwell S; Laboratory Corporation of America Holdings, Sequenom Center for Molecular Medicine, LLC, San Diego, California, USA.
Tynan J; Laboratory Corporation of America Holdings, Sequenom Center for Molecular Medicine, LLC, San Diego, California, USA.
Almasri E; Laboratory Corporation of America Holdings, Sequenom Center for Molecular Medicine, LLC, San Diego, California, USA.
Weinblatt V; Laboratory Corporation of America Holdings, Integrated Genetics, Westborough, Massachusetts, USA.
McCullough R; Laboratory Corporation of America Holdings, Sequenom Center for Molecular Medicine, LLC, San Diego, California, USA.
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Źródło:
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Prenatal diagnosis [Prenat Diagn] 2021 Jan; Vol. 41 (1), pp. 28-34. Date of Electronic Publication: 2020 Nov 25.
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Typ publikacji:
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Journal Article
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Język:
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English
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Imprint Name(s):
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Original Publication: Chichester, [Sussex]; New York : Wiley, c1981-
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MeSH Terms:
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Cell-Free Nucleic Acids/*analysis
Maternal Serum Screening Tests/*statistics & numerical data
Mosaicism/*statistics & numerical data
Trisomy/*diagnosis
Adult ; Cohort Studies ; Female ; Humans ; Predictive Value of Tests ; Pregnancy ; Trisomy/genetics
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References:
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Prenat Diagn. 2021 Jan;41(1):28-34. (PMID: 33151555)
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Substance Nomenclature:
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0 (Cell-Free Nucleic Acids)
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Entry Date(s):
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Date Created: 20201105 Date Completed: 20211119 Latest Revision: 20211119
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Update Code:
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20240105
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PubMed Central ID:
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PMC7894494
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DOI:
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10.1002/pd.5863
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PMID:
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33151555
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Objective: To examine the relationship between the fraction of cell-free DNA (cfDNA) affected by aneuploidy compared to the overall fetal fraction of a prenatal screening specimen and its effect on positive predictive value (PPV).
Method: CfDNA specimens positive for trisomy 13, 18, and 21 with diagnostic outcomes were analysed over a 22-month period in one clinical laboratory. For each positive specimen, a "mosaicism ratio" (MR) was calculated by dividing the fraction of cfDNA affected by aneuploidy by the overall fetal fraction of the specimen. PPVs were calculated and analyzed based on various MR ranges.
Results: Trisomy 13 was the aneuploidy most commonly seen in mosaic form, followed by trisomy 18 and trisomy 21. Significant differences in positive predictive values were noted for all three trisomies between samples with an MR in the "mosaic" versus "non-mosaic" range, as well as between results classified as "low-mosaic" versus "high-mosaic."
Conclusion: PPVs may be influenced, in part, by the mosaicism ratio associated with a particular result. The data generated from this study may be useful in providing more personalized risk assessments for patients with positive cfDNA screening results.
(© 2020 Laboratory Corporation of America Holdings. Prenatal Diagnosis published by John Wiley & Sons Ltd.)
