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Assessment of Fetal Sex Chromosome Aneuploidy Using Directed Cell-Free DNA Analysis

Nicolaides, Kypros H. ; Musci, Thomas J. ; Struble, Craig A. ; Syngelaki, Argyro ; Gil, M.M.

Fetal diagnosis and therapy, 2014-02, Vol.35 (1), p.1-6 [Periódico revisado por pares]

Basel, Switzerland: S. Karger AG

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  • Título:
    Assessment of Fetal Sex Chromosome Aneuploidy Using Directed Cell-Free DNA Analysis
  • Autor: Nicolaides, Kypros H. ; Musci, Thomas J. ; Struble, Craig A. ; Syngelaki, Argyro ; Gil, M.M.
  • Assuntos: Aneuploidy ; Case-Control Studies ; Chromosome Disorders - diagnosis ; Female ; Humans ; Karyotyping ; Maternal Serum Screening Tests - methods ; Original Paper ; Pregnancy ; Sensitivity and Specificity ; Sequence Analysis, DNA ; Sex Chromosomes
  • É parte de: Fetal diagnosis and therapy, 2014-02, Vol.35 (1), p.1-6
  • Notas: ObjectType-Article-1
    SourceType-Scholarly Journals-1
    ObjectType-Feature-2
    content type line 23
  • Descrição: Objective: To examine the performance of chromosome-selective sequencing of cell-free (cf) DNA in maternal blood for assessment of fetal sex chromosome aneuploidies. Methods: This was a case-control study of 177 stored maternal plasma samples, obtained before fetal karyotyping at 11-13 weeks of gestation, from 59 singleton pregnancies with fetal sex chromosome aneuploidies (45,X, n = 49; 47,XXX, n = 6; 47,XXY, n = 1; 47,XYY, n = 3) and 118 with euploid fetuses (46,XY, n = 59; 46,XX, n = 59). Digital analysis of selected regions (DANSR™) on chromosomes 21, 18, 13, X and Y was performed and the fetal-fraction optimized risk of trisomy evaluation (FORTE™) algorithm was used to estimate the risk for non-disomic genotypes. Performance was calculated at a risk cut-off of 1:100. Results: Analysis of cfDNA provided risk scores for 172 (97.2%) samples; 4 samples (45,X, n = 2; 46,XY, n = 1; 46,XX, n = 1) had an insufficient fetal cfDNA fraction for reliable testing and 1 case (47,XXX) failed laboratory quality control metrics. The classification was correct in 43 (91.5%) of 47 cases of 45,X, all 5 of 47,XXX, 1 of 47,XXY and 3 of 47,XYY. There were no false-positive results for monosomy X. Discussion: Analysis of cfDNA by chromosome-selective sequencing can correctly classify fetal sex chromosome aneuploidy with reasonably high sensitivity.
  • Editor: Basel, Switzerland: S. Karger AG
  • Idioma: Inglês
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