Document Detail

Combined sonographic and biochemical markers for Down syndrome screening.
MedLine Citation:
PMID:  14620889     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To evaluate the efficacy of fetal nuchal fold thickness and proximal long bone biometric measurements in modifying Down syndrome serum screening risk in a population of women referred for second-trimester sonography. METHODS: Sonographic biometric measurements and biochemical markers were combined retrospectively for 2533 women with known pregnancy outcomes. Four different screening methods were compared: (1) advanced maternal age; (2) biochemical serum screening markers; (3) modification of serum screening risks on the basis of categorical cutoffs for nuchal fold and femur and humerus length; and (4) a combined approach in which the sonographic measurements were treated as multiples of the medians and entered, together with the serum screening results, into a multivariable algorithm. The efficacy was compared at second-trimester risk cutoffs of 1:270 and 1:100. RESULTS: Down syndrome was present in 30 of the 2533 pregnancies (1 in 84). With the use of the 1:270 cutoff, biochemical screening had 93% sensitivity and a 40% false-positive rate. With application of the categorical method of fixed cutoffs to incorporate fetal biometry, the false-positive rate was reduced to 33% with no loss of sensitivity. The combined model had 83% sensitivity and a 19% false-positive rate. The combined method had the highest positive predictive value (1 in 20). Similar gains in efficacy could be shown with the 1:100 cutoff. CONCLUSIONS: For this high-risk group, the multivariate model that combines serum screening and sonography can result in a substantial reduction in the number of amniocenteses. Although the addition of the sonographic biometric measurements resulted in some Down syndrome cases being missed, the net effect was a large improvement in the overall positive predictive value of the screening.
Michael G Pinette; James F X Egan; Joseph R Wax; Jacquelyn Blackstone; Angelina Cartin; Peter A Benn
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine     Volume:  22     ISSN:  0278-4297     ISO Abbreviation:  J Ultrasound Med     Publication Date:  2003 Nov 
Date Detail:
Created Date:  2003-11-17     Completed Date:  2004-03-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8211547     Medline TA:  J Ultrasound Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1185-90     Citation Subset:  IM    
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, Maine, USA.
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MeSH Terms
Biological Markers / analysis*
Down Syndrome / diagnosis*,  ultrasonography
Femur / anatomy & histology
Humerus / anatomy & histology
Maternal Age
Pregnancy Trimester, Second
Pregnancy, High-Risk
Prenatal Diagnosis
Retrospective Studies
Risk Factors
Sensitivity and Specificity
Reg. No./Substance:
0/Biological Markers

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

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