Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: Theoretical and empirical considerations.

@article{Tong2006NoninvasivePD,
  title={Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: Theoretical and empirical considerations.},
  author={Yu Kwan Tong and Chunming Ding and Rossa W. K. Chiu and Ageliki Gerovassili and Stephen S. C. Chim and Tak Yeung Leung and Tse Ngong Leung and Tze Kin Lau and Kypros H. Nicolaides and Yuk Ming Dennis Lo},
  journal={Clinical chemistry},
  year={2006},
  volume={52 12},
  pages={2194-202}
}
BACKGROUND 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… CONTINUE READING