A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies
Journal of Genetic Medicine
;
: 31-33, 2017.
Article
Dans Anglais
| WPRIM
| ID: wpr-114916
ABSTRACT
Chromosomal loss in trisomy (trisomy rescue) to generate a disomic fetus can cause confined placental mosaicism and/or feto/placental mosaicism. After trisomy rescue event, there is a risk of fetal uniparental disomy (UPD). Noninvasive prenatal test (NIPT) reflects the genomic constitution of the placenta, not of the fetus itself. Feto-placental discrepancy can therefore cause false-positive (trisomy) NIPT results. These discordant NIPT results can serve as important clues to find UPD associated with confined placental mosaicism. We report a case with maternal UPD of chromosome 20, detected by NIPT of 1,000 high-risk pregnancies, carried out for detecting chromosomal abnormalities in Koreans.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Placenta
/
Trisomie
/
Chromosomes humains de la paire 20
/
Aberrations des chromosomes
/
Grossesse à haut risque
/
Statuts
/
Disomie uniparentale
/
Foetus
/
Mosaïcisme
Type d'étude:
Etude d'étiologie
langue:
Anglais
Texte intégral:
Journal of Genetic Medicine
Année:
2017
Type:
Article
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