title: Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.
abstract: OBJECTIVE
  We sought to evaluate performance of a noninvasive prenatal test for fetal trisomy 21 (T21) and trisomy 18 (T18).
  
  
  METHODS
  A multicenter cohort study was performed whereby cell-free DNA from maternal plasma was analyzed. Chromosome-selective sequencing on chromosomes 21 and 18 was performed with reporting of an aneuploidy risk (High Risk or Low Risk) for each subject.
  
  
  RESULTS
  Of the 81 T21 cases, all were classified as High Risk for T21 and there was 1 false-positive result among the 2888 normal cases, for a sensitivity of 100% (95% confidence interval [CI], 95.5-100%) and a false-positive rate of 0.03% (95% CI, 0.002-0.20%). Of the 38 T18 cases, 37 were classified as High Risk and there were 2 false-positive results among the 2888 normal cases, for a sensitivity of 97.4% (95% CI, 86.5-99.9%) and a false-positive rate of 0.07% (95% CI, 0.02-0.25%).
  
  
  CONCLUSIONS
  Chromosome-selective sequencing of cell-free DNA and application of an individualized risk algorithm is effective in the detection of fetal T21 and T18.
authors: Department of Obstetrics and Gynecology, Stanford University/Lucile Packard Children's Hospital, CA 94305, USA. menorton@stanford.edu
authors: Mary E
authors: ME
authors: Norton
authors: Herb
authors: H
authors: Brar
authors: Jonathan
authors: J
authors: Weiss
authors: Ardeshir
authors: A
authors: Karimi
authors: Louise C
authors: LC
authors: Laurent
authors: Aaron B
authors: AB
authors: Caughey
authors: M Hellen
authors: MH
authors: Rodriguez
authors: John
authors: J
authors: Williams
authors: Michael E
authors: ME
authors: Mitchell
authors: Charles D
authors: CD
authors: Adair
authors: Hanmin
authors: H
authors: Lee
authors: Bo
authors: B
authors: Jacobsson
authors: Mark W
authors: MW
authors: Tomlinson
authors: Dick
authors: D
authors: Oepkes
authors: Desiree
authors: D
authors: Hollemon
authors: Andrew B
authors: AB
authors: Sparks
authors: Arnold
authors: A
authors: Oliphant
authors: Ken
authors: K
authors: Song
mesh_terms: D000293:Adolescent; D000328:Adult; D000465:Algorithms; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D004247:DNA / Q000097:blood*; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008875:Middle Aged; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011446:Prospective Studies; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult
chemical_list: D004247:DNA