Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

@inproceedings{Chiu2011NoninvasivePA,
  title={Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study},
  author={Rossa W. K. Chiu and R Akolekar and Yama W. L. Zheng and Tak Yeung Leung and Hao Sun and K. C. Allen Chan and Fiona F. M. Lun and Attie T. J. I. Go and Elizabeth Tak-Kwong Lau and William To and Wing Cheong Leung and Rebecca Yuet Kiu Tang and Sidney K. C. Au-Yeung and Helena Lam and Yu Y. Kung and Xiuqing Zhang and John M. G. van Vugt and Ryoko Minekawa and Mary Hoi-Yin Tang and Jun Jun Wang and Cees B. M. Oudejans and Tze Kin Lau and Kypros H. Nicolaides and Y. M. Dennis Lo},
  booktitle={BMJ},
  year={2011}
}
OBJECTIVES To validate the clinical efficacy and practical feasibility of massively parallel maternal plasma DNA sequencing to screen for fetal trisomy 21 among high risk pregnancies clinically indicated for amniocentesis or chorionic villus sampling. DESIGN Diagnostic accuracy validated against full karyotyping, using prospectively collected or archived maternal plasma samples. SETTING Prenatal diagnostic units in Hong Kong, United Kingdom, and the Netherlands. PARTICIPANTS 753 pregnant… CONTINUE READING
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