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K. H. Nicolaides, A. Syngelaki, M. Gil, V. Atanasova and D. Markova Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y Prenatal Diagnosis 33

Version of Record online: 24 APR 2013 | DOI: 10.1002/pd.4103

What's already known about this topic?

  • A novel, effective method of screening for trisomies 21, 18, and 13 is derived from examination of cell-free DNA in maternal plasma.

What does this study add?

  • Targeted sequencing of single-nucleotide polymorphisms at chromosomes 13, 18, 21, X, and Y holds promise for accurate detection of fetal autosomal aneuploidies, sex chromosome aneuploidies, and triploidy.

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