title: Predictive value of increased nuchal translucency as a screening test for the detection of fetal chromosomal abnormalities.
abstract: OBJECTIVE
  The study aimed to estimate the incidence of increased nuchal translucency in the first trimester ultrasound scan results (cut-off limit 2.5 mm) and to evaluate the predictive value of increased nuchal translucency as a screening test for the detection of fetal chromosomal abnormalities.
  
  
  METHODS
  We used the ultrasound scan results of nuchal translucency evaluation and the results of chromosomal analysis of the invasive prenatal control performed as a result of increased nuchal translucency.
  
  
  RESULTS
  We collected 2183 nuchal translucency ultrasound scans in which we detected 21 embryos with a pathologic value (0.96%). We collected the data of 168 cases of invasive prenatal control due to increased nuchal translucency from which 122 cases were found. A total of 122 cases of pregnant women undergone an invasive prenatal diagnostic method due to increased nuchal translucency, of which 11 fetuses were found with trisomy 21 (Down syndrome) (9%), 3 fetuses with trisomy 13 (Patau syndrome) (2.45%), 3 fetuses with monosomy 45XO (Turner syndrome) (2.45%) and 1 fetus with translocation (0.8%).
  
  
  CONCLUSIONS
  The positive predictive value of the increased fetal nuchal translucency as a screening test for the detection of fetal chromosomal abnormalities based on the results of the chromosomal-genetic analysis of the invasive prenatal diagnostic procedures is 14.8%.
authors.affiliation: Department of Mother's and Children's Health, National School of Public Health, Athens, Greece.
authors.forename: Eleni
authors.initials: E
authors.lastname: Alexioy
authors.forename: Eleni
authors.initials: E
authors.lastname: Alexioy
authors.forename: Eftihios
authors.initials: E
authors.lastname: Trakakis
authors.forename: Demetrios
authors.initials: D
authors.lastname: Kassanos
authors.forename: George
authors.initials: G
authors.lastname: Farmakidis
authors.forename: Antonios
authors.initials: A
authors.lastname: Kondylios
authors.forename: Demetrios
authors.initials: D
authors.lastname: Laggas
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Salamalekis
authors.forename: Lia
authors.initials: L
authors.lastname: Florentin
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: George
authors.initials: G
authors.lastname: Basios
authors.forename: Pantelis
authors.initials: P
authors.lastname: Trompoukis
authors.forename: Lina
authors.initials: L
authors.lastname: Georgiadoy
authors.forename: Takis
authors.initials: T
authors.lastname: Panagiotopoulos
mesh_terms: D000293:Adolescent; D000328:Adult; D000649:Amniocentesis / Q000706:statistics & numerical data; D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis / Q000379:methods / Q000706:statistics & numerical data; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics*; D006059:Gonadal Dysgenesis / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008423:Maternal Age; D008875:Middle Aged; D048208:Nuchal Translucency Measurement / Q000379:methods* / Q000706:statistics & numerical data; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First / Q000502:physiology; D055815:Young Adult