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Tracy Futch, John Spinosa, Sucheta Bhatt, Eileen de Feo, Richard P. Rava and Amy J. Sehnert Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples Prenatal Diagnosis 33

Version of Record online: 17 MAY 2013 | DOI: 10.1002/pd.4123

What's already known about this topic?

  • Results of clinical validation studies demonstrate a high degree of accuracy to detect fetal aneuploidy by massively parallel sequencing of cell-free DNA from maternal plasma.
  • Commercial laboratories now offer sequencing-based tests to detect fetal aneuploidy by using different proprietary analysis and reporting methods, but little is known about test performance in the clinical setting.

What does this study add?

  • Analysis of commercial laboratory data obtained for nearly 6000 samples suggests that massively parallel sequencing of maternal cell-free DNA to detect fetal aneuploidy of chromosomes 21, 18, 13, and X meets or exceeds performance characteristics established by clinical validation studies.
  • Relevant biological correlations identified through clinical testing are discussed to increase provider awareness about this technology.

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