A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies

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 p...

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Bibliographic Details
Published inJournal of genetic medicine Vol. 14; no. 1; pp. 31 - 33
Main Authors Cha, Dong Hyun, Lee, Junnam, Jeon, Young-Joo, Jung, Yong Wook, Jang, Ja-Hyun, Lee, Taeheon, Cho, Eun Hae
Format Journal Article
LanguageEnglish
Published 대한의학유전학회 30.06.2017
Subjects
의학일반
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ISSN1226-1769
2383-8442
2383-8442
DOI10.5734/JGM.2017.14.1.31

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Summary: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. KCI Citation Count: 0
ISSN:1226-1769
2383-8442
2383-8442
DOI:10.5734/JGM.2017.14.1.31