Noninvasive prenatal testing to analyze the fetal genome
- PMID: 27911833
- PMCID: PMC5167201
- DOI: 10.1073/pnas.1617112113
Noninvasive prenatal testing to analyze the fetal genome
Conflict of interest statement
M.E.N.’s research receives support from Natera.
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Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends.Proc Natl Acad Sci U S A. 2016 Dec 13;113(50):E8159-E8168. doi: 10.1073/pnas.1615800113. Epub 2016 Oct 31. Proc Natl Acad Sci U S A. 2016. PMID: 27799561 Free PMC article.
References
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- Palomaki GE, et al. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet Med. 2011;13(11):913–920. - PubMed
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- Wapner RJ, et al. Expanding the scope of noninvasive prenatal testing: Detection of fetal microdeletion syndromes. Am J Obstet Gynecol. 2015;212(3):332.e1–332.e9. - PubMed
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- Lefkowitz RB, et al. Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants. Am J Obstet Gynecol. 2016;215(2):227.e1–227.e16. - PubMed
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