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KMID : 1189120170140010031
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대한의학유전학회지
2017 Volume.14 No. 1 p.31 ~ p.33
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A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies
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Cha Dong-Hyun
Lee Jun-Nam
Jeon Young-Joo
Jung Yong-Wook
Jang Ja-Hyun
Lee Tae-Heon
Cho Eun-Hae
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Abstract
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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.
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KEYWORD
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Uniparental disomy 20, Noninvasive prenatal test
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