DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

@article{Palomaki2011DNASO,
  title={DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study},
  author={G. Palomaki and E. Kloza and G. Lambert-Messerlian and J. Haddow and L. Neveux and M. Ehrich and D. Boom and A. Bombard and C. Deciu and W. Grody and S. Nelson and J. Canick},
  journal={Genetics in Medicine},
  year={2011},
  volume={13},
  pages={913-920}
}
  • G. Palomaki, E. Kloza, +9 authors J. Canick
  • Published 2011
  • Medicine
  • Genetics in Medicine
  • Purpose: Prenatal screening for Down syndrome has improved, but the number of resulting invasive diagnostic procedures remains problematic. Measurement of circulating cell-free DNA in maternal plasma might offer improvement.Methods: A blinded, nested case-control study was designed within a cohort of 4664 pregnancies at high risk for Down syndrome. Fetal karyotyping was compared with an internally validated, laboratory-developed test based on next-generation sequencing in 212 Down syndrome and… CONTINUE READING
    501 Citations

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    • F. Gerundino, C. Giachini, +23 authors F. Torricelli
    • Medicine
    • The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
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