Overview of Noninvasive Prenatal Testing (NIPT) for the Detection of Fetal Chromosome Abnormalities; Differences in Laboratory Methods and Scope of Testing.
Journal
Clinical obstetrics and gynecology
ISSN: 1532-5520
Titre abrégé: Clin Obstet Gynecol
Pays: United States
ID NLM: 0070014
Informations de publication
Date de publication:
01 09 2023
01 09 2023
Historique:
medline:
1
9
2023
pubmed:
31
8
2023
entrez:
31
8
2023
Statut:
ppublish
Résumé
Although nearly all noninvasive prenatal testing is currently based on analyzing circulating maternal cell-free DNA, the technical methods usedvary considerably. We review the different methods. Based on validation trials and clinical experience, there are mostly relatively small differences in screening performance for trisomies 21, 18, and 13 in singleton pregnancies. Recent reports show low no-call rates for all methods, diminishing its importance when choosing a laboratory. However, method can be an important consideration for twin pregnancies, screening for sex chromosome abnormalities, microdeletion syndromes, triploidy, molar pregnancies, rare autosomal trisomies, and segmental imbalances, and detecting maternal chromosome abnormalities.
Identifiants
pubmed: 37650667
doi: 10.1097/GRF.0000000000000803
pii: 00003081-202309000-00011
doi:
Types de publication
Review
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
536-556Informations de copyright
Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.
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