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Matthew W. Snyder, LaVone E. Simmons, Jacob O. Kitzman, Donna A. Santillan, Mark K. Santillan, Hilary S. Gammill and Jay Shendure Noninvasive fetal genome sequencing: a primer Prenatal Diagnosis 33

Version of Record online: 1 APR 2013 | DOI: 10.1002/pd.4097

What's already known about this topic?

  • Noninvasive fetal genome sequencing was recently demonstrated to be technically achievable, yielding an accurate and substantially complete result. Genome-wide inherited and de novo variation can be determined during pregnancy without risk to the mother or fetus. However, technical, ethical, and translational challenges must be addressed before this technique can be introduced in the clinic.

What does this study add?

  • We present an overview of noninvasive fetal genome sequencing for a clinical audience. We discuss the methodology in an accessible format and consider the key challenges along the path to clinical adoption.

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