Next-generation sequencing has provided long-sought-after noninvasive tests for prenatal screening, and a small cadre of companies has stepped up to push it into the clinic at warp speed.
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Change history
02 August 2013
In the version of this article initially published, Karen Drexler was incorrectly identified as the CEO of CellScape. She is co-founder and executive chair. The error has been corrected in the PDF and HTML versions of this article.
References
Fan, H.C. et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing from maternal DNA. Proc. Natl. Acad. Sci. USA 105, 16266–16271 (2008).
Chiu, R.W.K. et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc. Natl. Acad. Sci. USA 105, 20458–20463 (2008).
Wapner, R.J. et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N. Engl. J. Med. 367, 2175–2184 (2012).
Ehrich, M. et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am. J. Obstet. Gynecol. 204, 205e1–205e11 (2011).
Palomaki, G.E. et al. DNA sequencing of maternal plasma to detect Down Syndrome: an international clinical validation study. Genet. Med. 13, 913–920 (2011).
Sehnert, A.J. et al. Optimal detection of fetal chromosomal abnormalities by massively parallet DNA sequencing of cell-free fetal DNA from maternal blood. Clin. Chem. 57, 1042–1049 (2011).
Nicolaides, K.H. et al. Validation of targeted sequencing of single nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy 13, 18, 21, X, and Y. Prenat. Diagn. 33, 575–579 (2013).
Kitzman, J.O. et al. Noninvasive whole-genome sequencing of a human fetus. Sci. Transl. Med. 4, 137ra76 (2012).
Fan, H.C. et al. Non-invasive prenatal measurement of the fetal genome. Nature 487, 320–324 (2012).
Srinivasan, A. et al. Noninvasive detection of subchromosomal abnormalities via deep sequencing of maternal plasma. Am. J. Hum. Genet. 92, 167–176 (2013).
Mazloom, A.R. et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat. Diagn. 33, 591–597 (2013).
Bianchi, D.W. et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet. Gynecol. 119, 890–901 (2012).
Sparks, A.B. et al. A noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am. J. Obstet. Gynecol. 206, 319.e1 (2012).
Sparks, A.B. et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat. Diagn. 32, 3–9 (2012).
Agarwal, A. et al. Commercial landscape of noninvasive prenatal testing in the United States. Prenat. Diagn. 33, 521–531 (2013).
Weaver, C. Tough calls on prenatal tests. Wall Street Journal, B1, April 3, 2013.
Wertz, D.C., Sorenson, J.R. & Heeren, T.C. Clients' interpretation of risks provided in genetic counseling. Am. J. Hum. Genet. 39, 253–264 (1986).
Timmermans, D.R.M. Prenatal screening and the communication and perception of risks. Int. Congr. Ser. 1279, 234–243 (2005).
American Congress of Obstetricians and Gynecologists. Noninvasive prenatal testing for fetal aneuploidy. <http://www.acog.org/∼/media/Committee%20Opinions/Committee%20on%20Genetics/co545.pdf?dmc=1&ts=20130617T1459409928> (ACOG, 2012).
Allyse, M.A. et al. Best ethical practices for clinicians and laboratories in the provision of noninvasive prenatal testing. Prenat. Diagn. 33, 1–6 (2013).
FDA. Draft guidance for commercially distributed in vitro diagnostic products labeled for research use only or investigational use only: frequently asked questions. <http://www.fda.gov/downloads/MedicalDevices/DeviceRegulationandGuidance/GuidanceDocuments/UCM257460.pdf> (2011).
Ray, T. Amid 'chaos', FDA's Gutierrez offers insights on agency's regulatory stance on molecular tests. Genomeweb Pharmacogenomics Reporter <http://www.genomeweb.com/clinical-genomics/amid-chaos-fdas-gutierrez-offers-insights-agencys-regulatory-stance-molecular-te> (February 13, 2013).
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Allison, M. Genomic testing reaches into the womb. Nat Biotechnol 31, 595–601 (2013). https://doi.org/10.1038/nbt.2627
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DOI: https://doi.org/10.1038/nbt.2627
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