DNA sequencing versus standard prenatal aneuploidy screening.

@article{Bianchi2014DNASV,
  title={DNA sequencing versus standard prenatal aneuploidy screening.},
  author={D. Bianchi and R. L. Parker and J. Wentworth and R. Madankumar and Craig S Saffer and A. Das and J. A. Craig and Darya I Chudova and P. Devers and K. Jones and K. Oliver and R. P. Rava and A. Sehnert},
  journal={The New England journal of medicine},
  year={2014},
  volume={370 9},
  pages={
          799-808
        }
}
  • D. Bianchi, R. L. Parker, +10 authors A. Sehnert
  • Published 2014
  • Medicine
  • The New England journal of medicine
  • BACKGROUND In high-risk pregnant women, noninvasive prenatal testing with the use of massively parallel sequencing of maternal plasma cell-free DNA (cfDNA testing) accurately detects fetal autosomal aneuploidy. Its performance in low-risk women is unclear. METHODS At 21 centers in the United States, we collected blood samples from women with singleton pregnancies who were undergoing standard aneuploidy screening (serum biochemical assays with or without nuchal translucency measurement). We… CONTINUE READING
    171 Citations

    Paper Mentions

    INTERVENTIONAL CLINICAL TRIAL
    The purpose of the current study is to evaluate the effect of preimplantation genetic screening (PGS) by next generation sequencing (NGS) compared to standard morphological… Expand
    ConditionsAneuploidy, Infertility
    InterventionOther
    Genetic testing: cfDNA screening for trisomy 21 tested in unselected pregnancies
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    Sequencing shorter cfDNA fragments improves the fetal DNA fraction in noninvasive prenatal testing.
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    Screening for fetal aneuploidy.
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    Clinical Applications of Noninvasive Prenatal Testing
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    • PDF

    References

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