Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma

@article{Yu2013NoninvasivePM,
  title={Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma},
  author={Stephanie C. Y. Yu and Peiyong Jiang and Kwong Wai Choy and Kwan Chee Allen Chan and Hye-Sung Won and Wing Cheong Leung and Elizabeth Tak Kwong Lau and Mary Hoi Yin Tang and Tak Yeung Leung and Yuk Ming Dennis Lo and Rossa W. K. Chiu},
  journal={PLoS ONE},
  year={2013},
  volume={8}
}
Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively. Case reports describing the detection of fetal microdeletions from maternal plasma using massively parallel sequencing have been reported. However, these previous reports were either polymorphism-dependent or used statistical analyses which were confined to one or a small number of… 

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