title: Screening for trisomy 21 during the routine second-trimester ultrasound examination in an unselected Chilean population.
abstract: OBJECTIVE
  To evaluate the performance of a detailed ultrasound examination during the second trimester as a screening test for Down syndrome in an unselected Chilean population.
  
  
  METHODS
  This was part of an ongoing longitudinal study. Included were 3071 women with singleton pregnancies who underwent routine ultrasound examination between 21 + 0 and 25 + 6 gestational weeks as a screening test for chromosomal abnormalities and major congenital structural defects, and who were diagnosed as having trisomy 21 or being chromosomally normal. Maternal age, and eight soft markers and cardiac defects associated with Down syndrome were evaluated as a screening test using logistic regression analysis.
  
  
  RESULTS
  The incidence of Down syndrome was 0.6%, and the mean maternal age was 29.4 +/- 6.2 years. At least one of four soft markers (absent nasal bone, nuchal edema, short femur, echogenic foci) and/or cardiac defects was present in 77.8% of Down syndrome fetuses and in 3.1% of normal fetuses. Furthermore, with a false-positive rate of 1%, the detection rate using the combined model of ultrasound markers and maternal age was 72.2%.
  
  
  CONCLUSIONS
  Second-trimester ultrasound markers are able to detect over 70% of Down syndrome fetuses with only a 1% false-positive rate.
authors.affiliation: Fetal Medicine Unit, Hospital Clinico Universidad de Chile, Santiago, Chile. mcparra@redclinicauchile.cl
authors.forename: M
authors.initials: M
authors.lastname: Parra-Cordero
authors.forename: L
authors.initials: L
authors.lastname: Quiroz
authors.forename: G
authors.initials: G
authors.lastname: Rencoret
authors.forename: D
authors.initials: D
authors.lastname: Pedraza
authors.forename: H
authors.initials: H
authors.lastname: Muñoz
authors.forename: E
authors.initials: E
authors.lastname: Soto-Chacón
authors.forename: I
authors.initials: I
authors.lastname: Miranda-Mendoza
mesh_terms: D000328:Adult; D002677:Chile / Q000453:epidemiology; D004314:Down Syndrome / Q000000981:diagnostic imaging* / Q000453:epidemiology; D004487:Edema / Q000000981:diagnostic imaging; D004812:Epidemiologic Methods; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D009295:Nasal Bone / Q000000981:diagnostic imaging; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal / Q000592:standards*