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Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis.

AbstractOBJECTIVE:
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.
AuthorsKypros H Nicolaides, Thomas J Musci, Craig A Struble, Argyro Syngelaki, M M Gil
JournalFetal diagnosis and therapy (Fetal Diagn Ther) Vol. 35 Issue 1 Pg. 1-6 ( 2014) ISSN: 1421-9964 [Electronic] Switzerland
PMID24335155 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Copyright© 2013 S. Karger AG, Basel.
Topics
  • Aneuploidy
  • Case-Control Studies
  • Chromosome Disorders (diagnosis)
  • Female
  • Humans
  • Karyotyping
  • Maternal Serum Screening Tests (methods)
  • Pregnancy
  • Sensitivity and Specificity
  • Sequence Analysis, DNA
  • Sex Chromosomes

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