title: European non-invasive trisomy evaluation (EU-NITE) study: a multicenter prospective cohort study for non-invasive fetal trisomy 21 testing.
abstract: OBJECTIVE
  To evaluate the performance of a directed non-invasive prenatal testing method of cell-free DNA analysis for fetal trisomy 21 (T21) by shipping the whole blood samples from Europe to a laboratory in the USA.
  
  
  METHODS
  A European multicenter prospective, consecutive cohort study was performed enrolling pregnant women from Sweden and the Netherlands. Blood samples were drawn just prior to a planned of invasive diagnostic procedure in a population at increased risk for fetal T21 and then shipped to the USA without any blood processing. Chromosome-selective sequencing was carried out on chromosome 21 with reporting high risk or low risk of T21. Karyotyping or rapid aneuploidy detection was used as the clinical reference standard.
  
  
  RESULTS
  Of the 520 eligible study subjects, a T21 test result was obtained in 504/520 (96.9%). Risk assessment was accurate in 503/504 subjects (99.8%). There was one false negative result for T21 (sensitivity 17/18, 94.4%, and specificity 100%).
  
  
  CONCLUSIONS
  This is the first prospective European multicenter study showing that non-invasive prenatal testing using directed sequencing of cell-free DNA applied to blood samples shipped across the Atlantic Ocean, is highly accurate for assessing risk of fetal T21.
authors.affiliation: Department of Obstetrics, Leiden University Medical Center, Leiden, the Netherlands.
authors.forename: E J
authors.initials: EJ
authors.lastname: Verweij
authors.forename: B
authors.initials: B
authors.lastname: Jacobsson
authors.forename: P A
authors.initials: PA
authors.lastname: van Scheltema
authors.forename: M A
authors.initials: MA
authors.lastname: de Boer
authors.forename: M J V
authors.initials: MJ
authors.lastname: Hoffer
authors.forename: D
authors.initials: D
authors.lastname: Hollemon
authors.forename: M
authors.initials: M
authors.lastname: Westgren
authors.forename: K
authors.initials: K
authors.lastname: Song
authors.forename: D
authors.initials: D
authors.lastname: Oepkes
mesh_terms: D000328:Adult; D001774:Blood Chemical Analysis / Q000592:standards; D015331:Cohort Studies; D004314:Down Syndrome / Q000175:diagnosis*; D005060:Europe; D005260:Female; D006801:Humans; D008875:Middle Aged; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods* / Q000592:standards; D012680:Sensitivity and Specificity; D014314:Trisomy / Q000175:diagnosis*; D055815:Young Adult