title: Risk assessment for Down syndrome with genetic sonogram in women at risk.
abstract: OBJECTIVE
  To evaluate the algorithms of risk assessment for Down syndrome (DS).
  
  
  METHODS
  Cohort study conducted in women at risk undergoing midtrimester genetic sonogram. Univariate and logistic regression analysis were used to relate findings to the occurrence of DS. The resulting model was validated in an independent population of patients.
  
  
  RESULTS
  In a multivariable model adjusted for gestational age and maternal age, nuchal fold thickness (NFT) >or= 5 mm (OR = 4.6, 95% CI 0.9-23.9), presence of renal pelvic dilation (OR = 18.0, 95% CI 2.9-110.5), absent mid-phalanx of the 5th finger (OR = 29.9, 95% CI 6.1-145.8), presence of noncardiac malformations (OR = 20.1, 95% CI 2.6-154.7) or isolated heart defects (OR = 60.2, 95% CI 9.5-382.8), the interactions of gestational age with NFT >or= 5 mm (P = 0.04) and malformations with heart defects (P = 0.03) were significantly associated with DS. Utilizing this model and a risk cutoff point of 1/270, the sensitivity was 83.3% (5/6) with a false positive rate (FPR) of 28.5% (159/558).
  
  
  CONCLUSIONS
  Genetic sonogram has adequate accuracy to be incorporated into management algorithms for risk assessment of DS in women at risk.
authors.affiliation: Department of Obstetrics and Gynecology, University of Milano-Bicocca, Monza, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Vergani
authors.forename: Alessandro
authors.initials: A
authors.lastname: Ghidini
authors.forename: Steven
authors.initials: S
authors.lastname: Weiner
authors.forename: Anna
authors.initials: A
authors.lastname: Locatelli
authors.forename: Elisa
authors.initials: E
authors.lastname: Pozzi
authors.forename: Anna
authors.initials: A
authors.lastname: Biffi
mesh_terms: D000328:Adult; D000465:Algorithms; D015331:Cohort Studies; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging; D004314:Down Syndrome / Q000000981:diagnostic imaging*; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D008423:Maternal Age; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012306:Risk; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D016216:Ultrasonography, Prenatal