Simulated confined placental mosaicism proportion (SCPMP) based on cell-free fetal DNA fraction enrichment can reduce false-positive results in non-invasive prenatal testing.
Prenat Diagn
; 42(8): 1008-1014, 2022 07.
Article
en En
| MEDLINE
| ID: mdl-35441712
ABSTRACT
OBJECTIVE:
To decrease the false-positive rate of NIPT using cell-free fetal DNA (cffDNA) fraction enrichment and the simulated confined placental mosaicism proportion (SCPMP) threshold application via cffDNA quantification.METHOD:
Using a cffDNA enrichment method, 303 plasma samples with positive NIPT results (Z-score > 3.0; 200 true-positive and 103 false-positive cases) were re-sequenced. A method to calculate the SCPMP based on the quantified cffDNA fraction was developed; the SCPMP threshold between true- and false-positive NIPT results was determined and used for re-analyses.RESULTS:
With enrichment, the fetal fraction of the 303 samples was 26.9 ± 8.4%, compared to 11.0 ± 3.2% without enrichment. The optimized threshold method with double determination using the Z-value-defined SCPMP can reduce the false-positive rates for trisomies 21, 18, and 13 by 87%, 80%, and 88.9%, respectively.CONCLUSION:
Our optimized method can decrease the false-positive rate of NIPT results.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Ácidos Nucleicos Libres de Células
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Año:
2022
Tipo del documento:
Article
País de afiliación:
China