Impact of mosaicism ratio on positive predictive value of cfDNA screening.
Prenat Diagn
; 41(1): 28-34, 2021 01.
Article
em En
| MEDLINE
| ID: mdl-33151555
ABSTRACT
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Trissomia
/
Testes para Triagem do Soro Materno
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Ácidos Nucleicos Livres
/
Mosaicismo
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Adult
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Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Estados Unidos