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
in English
| WPRIM (Western Pacific)
| ID: wpr-114916
Responsible library:
WPRO
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.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Placenta
/
Trisomy
/
Chromosomes, Human, Pair 20
/
Chromosome Aberrations
/
Pregnancy, High-Risk
/
Constitution and Bylaws
/
Uniparental Disomy
/
Fetus
/
Mosaicism
Type of study:
Etiology study
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2017
Document type:
Article