title: Prenatal diagnosis of trisomy 21 through detection of trophoblasts in cervical smears.
abstract: BACKGROUND
  Fetal cells exfoliate in the uterine cavity during early pregnancy and are a potential source of material for NIPD.
  
  
  OBJECTIVE
  This study was designed to test the hypothesis that fetal cells obtained from the uterine cervix during the first trimester of pregnancy could be utilized for prenatal diagnosis of chromosomal aneuploidy.
  
  
  METHODS
  Fetal cells retrieved from the distal endocervical canal during the first trimester of pregnancy were hybridized with chromosome 21 specific FISH probes and analyzed with an automated fluorescence microscope.
  
  
  METHODS
  Cells with 3 copies of chromosome 21 were detected in 5 out of 5 trisomy 21 pregnancies.
  
  
  RESULTS
  The number of trisomic cells detected ranged from 1 to 27 with a median value of 5.
  
  
  CONCLUSIONS
  FISH-based scanning can identify trisomy 21 pregnancies by analysis of routine cervical brushings. The approach offers the potential for non-invasive prenatal diagnosis as early as 5 weeks gestation.
authors.affiliation: Department of Obstetrics-Gynecology, University Hospital of Heraklion, Crete, Greece.
authors.forename: Stavros
authors.initials: S
authors.lastname: Sifakis
authors.forename: Satish
authors.initials: S
authors.lastname: Ghatpande
authors.forename: Antti
authors.initials: A
authors.lastname: Seppo
authors.forename: Michael W
authors.initials: MW
authors.lastname: Kilpatrick
authors.forename: Triantaphyllos
authors.initials: T
authors.lastname: Tafas
authors.forename: Petros
authors.initials: P
authors.lastname: Tsipouras
authors.forename: Moshe
authors.initials: M
authors.lastname: Fejgin
authors.forename: Aliza
authors.initials: A
authors.lastname: Amiel
mesh_terms: D004314:Down Syndrome / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*; D014327:Trophoblasts / Q000473:pathology*; D014626:Vaginal Smears