Noninvasive Prenatal Detection of Fetal Trisomy 18 by Epigenetic Allelic Ratio Analysis in Maternal Plasma: Theoretical and Empirical Considerations | Zendy

Tong Yu | Zendy; Chunming Ding | Zendy; Rossa W. K. Chiu | Zendy; Ageliki Gerovassili | Zendy; S Chim | Zendy; Tak Yeung Leung | Zendy; Tse Ngong Leung | Zendy; Tze Kin Lau | Zendy; K. H. Nicolaides | Zendy; Y. M. Dennis Lo | Zendy

Open Access

Noninvasive Prenatal Detection of Fetal Trisomy 18 by Epigenetic Allelic Ratio Analysis in Maternal Plasma: Theoretical and Empirical Considerations

Author(s) -

Tong Yu,

Chunming Ding,

Rossa W. K. Chiu,

Ageliki Gerovassili,

S Chim,

Tak Yeung Leung,

Tse Ngong Leung,

Tze Kin Lau,

K. H. Nicolaides,

Y. M. Dennis Lo

Publication year - 2006

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2006.076851

Subject(s) - epigenetics , dna methylation , cell free fetal dna , biology , fetus , aneuploidy , bisulfite sequencing , allele , trisomy , genetics , andrology , prenatal diagnosis , microbiology and biotechnology , pregnancy , chromosome , gene , medicine , gene expression

The discovery of cell-free fetal DNA in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. However, the use of maternal plasma fetal DNA for the direct detection of fetal chromosomal aneuploidies has not been reported. We postulate that the aneuploidy status of a fetus could be revealed by an epigenetic allelic ratio approach, i.e., by analyzing the allelic ratio of a single-base variation present within DNA molecules exhibiting a placental-specific epigenetic signature in maternal plasma.

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