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.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Placenta
/
Trissomia
/
Cromossomos Humanos Par 20
/
Aberrações Cromossômicas
/
Gravidez de Alto Risco
/
Constituição e Estatutos
/
Dissomia Uniparental
/
Feto
/
Mosaicismo
Tipo de estudo:
Estudo de etiologia
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2017
Tipo de documento:
Artigo
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