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Risk assessment for Down syndrome with genetic sonogram in women at risk
Author(s) -
Vergani Patrizia,
Ghidini Alessandro,
Weiner Steven,
Locatelli Anna,
Pozzi Elisa,
Biffi Anna
Publication year - 2008
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.2138
Subject(s) - medicine , logistic regression , gestational age , obstetrics , univariate analysis , population , risk assessment , cohort , down syndrome , pregnancy , gynecology , multivariate analysis , biology , genetics , computer security , environmental health , psychiatry , computer science
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) ≥ 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 ≥ 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). Conclusion Genetic sonogram has adequate accuracy to be incorporated into management algorithms for risk assessment of DS in women at risk. Copyright © 2008 John Wiley & Sons, Ltd.