Skip to main content

Thank you for visiting You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

Genomic testing reaches into the womb

A Correction to this article was published on 08 October 2013

This article has been updated

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.

Your institute does not have access to this article

Relevant articles

Open Access articles citing this article.

Access options

Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.

Figure 1: Clinical validation of noninvasive trisomy 21 testing.
Figure 2: Genetic disorders detectable by prenatal testing methods.

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.


  1. 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).

    CAS  Article  Google Scholar 

  2. 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).

    CAS  Article  Google Scholar 

  3. Wapner, R.J. et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N. Engl. J. Med. 367, 2175–2184 (2012).

    CAS  Article  Google Scholar 

  4. 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).

    Article  Google Scholar 

  5. 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).

    CAS  Article  Google Scholar 

  6. 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).

    CAS  Article  Google Scholar 

  7. 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).

    CAS  Article  Google Scholar 

  8. Kitzman, J.O. et al. Noninvasive whole-genome sequencing of a human fetus. Sci. Transl. Med. 4, 137ra76 (2012).

    Article  Google Scholar 

  9. Fan, H.C. et al. Non-invasive prenatal measurement of the fetal genome. Nature 487, 320–324 (2012).

    CAS  Article  Google Scholar 

  10. Srinivasan, A. et al. Noninvasive detection of subchromosomal abnormalities via deep sequencing of maternal plasma. Am. J. Hum. Genet. 92, 167–176 (2013).

    CAS  Article  Google Scholar 

  11. 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).

    CAS  Article  Google Scholar 

  12. Bianchi, D.W. et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet. Gynecol. 119, 890–901 (2012).

    CAS  Article  Google Scholar 

  13. 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).

    CAS  Article  Google Scholar 

  14. 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).

    CAS  Article  Google Scholar 

  15. Agarwal, A. et al. Commercial landscape of noninvasive prenatal testing in the United States. Prenat. Diagn. 33, 521–531 (2013).

    Article  Google Scholar 

  16. Weaver, C. Tough calls on prenatal tests. Wall Street Journal, B1, April 3, 2013.

  17. 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).

    CAS  PubMed  PubMed Central  Google Scholar 

  18. Timmermans, D.R.M. Prenatal screening and the communication and perception of risks. Int. Congr. Ser. 1279, 234–243 (2005).

    Article  Google Scholar 

  19. American Congress of Obstetricians and Gynecologists. Noninvasive prenatal testing for fetal aneuploidy. <> (ACOG, 2012).

  20. 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).

    Article  Google Scholar 

  21. FDA. Draft guidance for commercially distributed in vitro diagnostic products labeled for research use only or investigational use only: frequently asked questions. <> (2011).

  22. Ray, T. Amid 'chaos', FDA's Gutierrez offers insights on agency's regulatory stance on molecular tests. Genomeweb Pharmacogenomics Reporter <> (February 13, 2013).

    Google Scholar 

Download references

Author information

Authors and Affiliations


Rights and permissions

Reprints and Permissions

About this article

Cite this article

Allison, M. Genomic testing reaches into the womb. Nat Biotechnol 31, 595–601 (2013).

Download citation

  • Published:

  • Issue Date:

  • DOI:

Further reading


Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing