Update on noninvasive prenatal testing: A review based on current worldwide research.
diagnostic test
genetic counseling
noninvasive prenatal testing
sex chromosome aneuploidy
trisomy
Journal
The journal of obstetrics and gynaecology research
ISSN: 1447-0756
Titre abrégé: J Obstet Gynaecol Res
Pays: Australia
ID NLM: 9612761
Informations de publication
Date de publication:
Aug 2020
Aug 2020
Historique:
received:
22
03
2020
accepted:
11
04
2020
pubmed:
20
6
2020
medline:
22
6
2021
entrez:
20
6
2020
Statut:
ppublish
Résumé
Eight years have passed since noninvasive prenatal testing (NIPT) was clinically evaluated and data on NIPT for trisomy 21, 18 and 13 were collected. The data revealed that NIPT is more accurate than conventional first-trimester screening. However, there is still insufficient data regarding the clinical use of NIPT results in detecting sex chromosome aneuploidies or whole-genome regions. NIPT is already being used as a clinical screening method globally. However, it is an unconfirmed diagnostic test and the results must be interpreted with caution as they may yield false negatives, false positives or inconclusive results. Therefore, the aim of this review is to highlight the current status of information, including the different methodologies, shortcomings and implications, regarding NIPT after its adoption worldwide. It is important to include genetic counseling when implementing NIPT. Going forward, the knowledge obtained to date, including the associated shortcomings, must be considered in evaluating the effectiveness of NIPT in detecting genetic abnormalities.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1246-1254Informations de copyright
© 2020 Japan Society of Obstetrics and Gynecology.
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