Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report
Journal of Genetic Medicine
; : 118-122, 2015.
Article
Dans En
| WPRIM
| ID: wpr-195761
Responsable en Bibliothèque :
WPRO
ABSTRACT
Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and analyzes it with massively parallel sequencing technology to determine whether the fetus is at risk of trisomy 21, trisomy 18, trisomy 13 or sex chromosome abnormalities (SCAs). NIPT has been reported to have sensitivity of 99% and a false positive rate of less than 1% for detecting trisomy 21 and trisomy 18. Although extension of the application of NIPT to other SCAs has been attempted, there are concerns in extending NIPT to SCAs because of maternal or fetal mosaicism, undetected maternal SCAs, and multiple pregnancies. Recently, we assessed a pregnancy with the rare Turner syndrome mosaicism 45, X/47, XXX, which was reported as 45, X with NIPT. We present the case here and briefly review the current literatures on NIPT in testing for fetal monosomy X. To the best of our knowledge, this is the first report of the 45, X/47, XXX mosaicism in Korea to be reported as 45, X by NIPT with whole genome sequencing. This case report will provide valuable information for counseling women who want to undergo NIPT.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Plasma sanguin
/
Grossesse multiple
/
Diagnostic prénatal
/
Aberrations des chromosomes sexuels
/
Trisomie
/
Syndrome de Turner
/
ADN
/
Dépistage de masse
/
Génome
/
Syndrome de Down
Type d'étude:
Diagnostic_studies
/
Screening_studies
Limites du sujet:
Female
/
Humans
/
Pregnancy
Pays comme sujet:
Asia
langue:
En
Texte intégral:
Journal of Genetic Medicine
Année:
2015
Type:
Article