Non-invasive cell-free DNA-based approach for the diagnosis of clinical miscarriage: A retrospective study.
BJOG
; 131(2): 213-221, 2024 Jan.
Article
em En
| MEDLINE
| ID: mdl-37533357
ABSTRACT
OBJECTIVE:
To evaluate cell-free DNA (cfDNA) testing as a non-invasive approach to detecting aneuploidies in clinical miscarriages.DESIGN:
A retrospective cohort study of women with pregnancy loss.SETTING:
Hospitals and genetic analysis laboratories. POPULATION OR SAMPLE Pregnancy losses in the period 2021-2022.METHODS:
Results derived from non-invasive cfDNA testing (Veriseq NIPT Solution V2) of maternal blood and invasive analysis of products of conception (POC) (Ion ReproSeq) compared in 120 women who suffered a miscarriage. MAIN OUTCOMEMEASURES:
Concordance rate results, cfDNA testing performance, non-informative rate (NIR) and fetal fraction (FF).RESULTS:
We found no significant differences in the NIR between invasive (iPOC) and non-invasive (niPOC) analysis of POC (10.0% [12/120] versus 16.7% [20/120]). Of 120 samples, 90 provided an informative result in iPOC and niPOC groups (75%). cfDNA analysis correctly identified 74/87 (85.1%) samples (excluding triploidies). Sensitivity and specificity were 79.4% and 100%, respectively; all discordant cases were female. A binomial logistic model suggested fetal sex as the only variable influencing the concordance rate (P = 0.035). A Y-chromosome-based FF estimate allowed the optimal reclassification of cfDNA of non-informative male fetuses and a more accurate evaluation of cfDNA testing performance. The difference between the two FF estimates (native algorithm and Y-chromosome-based) suggests that female non-concordant cases may represent non-informative cases.CONCLUSIONS:
Cell-free DNA-based testing provides a non-invasive approach to determining the genetic cause of clinical miscarriage.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Aborto Espontâneo
/
Ácidos Nucleicos Livres
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
Limite:
Female
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Humans
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Male
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Pregnancy
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article