A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies.
- Author:
Dong Hyun CHA
1
;
Junnam LEE
;
Young Joo JEON
;
Yong Wook JUNG
;
Ja Hyun JANG
;
Taeheon LEE
;
Eun Hae CHO
Author Information
- Publication Type:Case Report
- Keywords: Uniparental disomy 20; Noninvasive prenatal test
- MeSH: Chromosome Aberrations; Chromosomes, Human, Pair 20*; Constitution and Bylaws; Fetus; Mosaicism; Placenta; Pregnancy, High-Risk*; Trisomy; Uniparental Disomy*
- From:Journal of Genetic Medicine 2017;14(1):31-33
- CountryRepublic of Korea
- Language:English
- 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.
