Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood.

@article{Fan2008NoninvasiveDO,
  title={Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood.},
  author={H. Christina Fan and Yair J Blumenfeld and Usha Chitkara and Louanne Hudgins and Stephen R. Quake},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2008},
  volume={105 42},
  pages={
          16266-71
        }
}
We directly sequenced cell-free DNA with high-throughput shotgun sequencing technology from plasma of pregnant women, obtaining, on average, 5 million sequence tags per patient sample. This enabled us to measure the over- and underrepresentation of chromosomes from an aneuploid fetus. The sequencing approach is polymorphism-independent and therefore universally applicable for the noninvasive detection of fetal aneuploidy. Using this method, we successfully identified all nine cases of trisomy… CONTINUE READING

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