Document Detail

The "genetic sonogram": comparison of the index scoring system with the age-adjusted US risk assessment.
MedLine Citation:
PMID:  10831699     Owner:  NLM     Status:  MEDLINE    
PURPOSE: To compare two ultrasonographic (US) methods for prenatal detection of fetal Down syndrome. MATERIALS AND METHODS: Genetic amniocentesis was successfully performed in 3,303 consecutive women with high-risk pregnancies (mean gestational age, 17.1 weeks). All patients underwent a complete "genetic US" examination prospectively. Risk was assessed by using (a) various modifications of the index scoring system (ISS) and (b) the age-adjusted US risk assessment (AAURA). RESULTS: The prevalence of Down syndrome in this population was 1.6% (53 of 3,303). By using a threshold of at least 2 points to detect trisomy 21, the best ISS had a sensitivity of 45.3%, false-positive rate of 4.9%, likelihood ratio of 9.3, and positive predictive value in the high-risk population in this study of 13.3%. Lowering the threshold to 1 point increased the sensitivity to 60.4% but increased the false-positive rate to 15.8%. Adding points for age increased the sensitivity to 67.9% but increased the false-positive rate to 24.3%. Results of using AAURA to detect trisomy 21 were nearly identical, with a sensitivity of 43.4% and false-positive rate of 4.9% at a 1 in 36 risk threshold and a sensitivity of 69.8% and false-positive rate of 26.1% at a 1 in 200 threshold. Trisomies 18 and 13 were detected with sensitivities of 80.0% and 100.0%, respectively, with either system. CONCLUSION: The modified ISS and AAURA are equivalent in screening for Down syndrome, with detection of approximately half of all trisomy 21 fetuses at a 5% false-positive rate.
T C Winter; S B Uhrich; V L Souter; D A Nyberg
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  Radiology     Volume:  215     ISSN:  0033-8419     ISO Abbreviation:  Radiology     Publication Date:  2000 Jun 
Date Detail:
Created Date:  2000-06-21     Completed Date:  2000-06-21     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0401260     Medline TA:  Radiology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  775-82     Citation Subset:  AIM; IM    
Department of Radiology, Division of Ultrasound, University of Washington Medical Center, Seattle, USA.
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MeSH Terms
Amniocentesis / statistics & numerical data
Down Syndrome / ultrasonography
False Positive Reactions
Genetic Testing / methods*
Gestational Age
Likelihood Functions
Maternal Age*
Prospective Studies
Reproducibility of Results
Risk Assessment / methods,  statistics & numerical data
Risk Factors
Sensitivity and Specificity
Ultrasonography, Prenatal / methods*,  statistics & numerical data

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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