Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood.

@article{Sehnert2011OptimalDO,
  title={Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood.},
  author={Amy J. Sehnert and Brian Rhees and David Comstock and Eileen de Feo and Gabrielle M Heilek and John P. Burke and Richard P. Rava},
  journal={Clinical chemistry},
  year={2011},
  volume={57 7},
  pages={
          1042-9
        }
}
BACKGROUND Massively parallel DNA sequencing of cell-free fetal DNA from maternal blood can detect fetal chromosomal abnormalities. Although existing algorithms focus on the detection of fetal trisomy 21 (T21), these same algorithms have difficulty detecting trisomy 18 (T18). METHODS Blood samples were collected from 1014 patients at 13 US clinic locations before they underwent an invasive prenatal procedure. All samples were processed to plasma, and the DNA extracted from 119 samples… CONTINUE READING
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