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Comment
. 2016 Dec 13;113(50):14173-14175.
doi: 10.1073/pnas.1617112113. Epub 2016 Nov 30.

Noninvasive prenatal testing to analyze the fetal genome

Affiliations
Comment

Noninvasive prenatal testing to analyze the fetal genome

Mary E Norton. Proc Natl Acad Sci U S A. .
No abstract available

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Conflict of interest statement

M.E.N.’s research receives support from Natera.

Figures

Fig. 1.
Fig. 1.
An overview of currently available applications of massively parallel sequencing-based noninvasive prenatal testing using cell-free nucleic acids (DNA and RNA) in maternal plasma thought to originate from apoptotic trophoblasts. The fetal genome (from chromosomal to subchromosomal to single-gene levels) may be decoded; the methylome and transcriptome have also been investigated. A, adenine; C, cytosine; G, guanosine; mC, methylated cytosine; MPS, massively parallel sequencing; RNA-seq, RNA sequencing; T, thymine; U, uridine. Reproduced from ref. , with permission of Annual Review of Medicine, Volume 67 © 2016 by Annual Reviews.

Comment on

References

    1. 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
    1. Srinivasan A, Bianchi DW, Huang H, Sehnert AJ, Rava RP. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet. 2013;92(2):167–176. - PMC - PubMed
    1. 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
    1. 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
    1. Yu SC, et al. Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS One. 2013;8(4):e60968. - PMC - PubMed

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