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Comment
. 2020 Mar;22(3):657-658.
doi: 10.1038/s41436-019-0689-5. Epub 2019 Nov 6.

The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data

Erik A Sistermans  1 , Diane Van Opstal  2 , Mireille N Bekker  3 , Mark D Pertile  4   5
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Free article
Comment

The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data

Erik A Sistermans et al. Genet Med. 2020 Mar.
Free article
No abstract available

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  • Response to Sistermans et al.
    Benn P, Grati FR, Ferreira J. Benn P, et al. Genet Med. 2020 Mar;22(3):659-660. doi: 10.1038/s41436-019-0687-7. Epub 2019 Nov 4. Genet Med. 2020. PMID: 31680122 No abstract available.

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References

    1. Grati FR, Ferreira J, Benn P, et al. Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA. Genet Med. 2019 Aug 8; https://doi.org/10.1038/s41436-019-0630-y [Epub ahead of print]. - DOI
    1. Toutain J, Goutte-Gattat D, Horovitz J, Saura R. Confined placental mosaicism revisited: Impact on pregnancy characteristics and outcome. PLoS ONE. 2018;13:e0195905. - DOI
    1. Robinson WP, Barrett IJ, Bernard L, et al. Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet. 1997;60:917–927. - PubMed - PMC
    1. McCowan LM, Figueras F, Anderson NH. Evidence-based national guidelines for the management of suspected fetal growth restriction: comparison, consensus, and controversy. Am J Obstet Gynecol. 2018;218:S855–S868. - DOI
    1. Pertile MD, Halks-Miller M, Flowers N, et al. Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease. Sci Transl Med. 2017;9:eaan1240. - DOI

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