Document Detail

An 8-center study to evaluate the utility of mid-term genetic sonograms among high-risk pregnancies.
MedLine Citation:
PMID:  12523608     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: A multicenter study was undertaken to evaluate the diagnostic efficacy of a genetic sonogram. METHODS: Eight centers provided data on 176 pregnancies complicated by fetal Down syndrome. One hundred thirty-four pregnancies were considered high risk because of advanced maternal age (> 35 years), and 42 were considered high risk for having "abnormal" triple-screen results (risk > 1:250). Each center provided fetal biometric data, information regarding the presence or absence of major structural abnormalities, and between 3 and 6 additional ultrasonographic markers for trisomy 21. The heterogeneity of our 8 independent "sensitivity estimates" was evaluated by Poisson regression, and a single combined estimate of the sensitivity was calculated. RESULTS: Of the total 176 cases of trisomy 21, 125 fetuses (71.0%) had either an abnormal long bone length (femur length, humerus length, or both), a major structural abnormality, or a Down syndrome marker. The combined diagnostic sensitivity was 71.6%, with a range of 63.6% (7 of 11) to 80% (8 of 10). Five centers had sensitivity estimates falling between 64% and 76%. The sensitivity of individual markers varied between 3% (sandal gap) and 46.5% (nuchal skin fold thickness). A condensed regimen of nuchal skin fold thickness, femur length, and a standard anatomic survey would screen in 56.8% of fetuses with Down syndrome. CONCLUSIONS: This 8-center study that included many fetuses with Down syndrome validates the concept that the genetic sonogram can be used to better adjust the Down syndrome risk for high-risk patients.
John C Hobbins; Dennis C Lezotte; Wayne H Persutte; Greggory R DeVore; Beryl R Benacerraf; David A Nyberg; Anthony M Vintzileos; Lawrence D Platt; Dru E Carlson; Raymond O Bahado-Singh; Alfred Z Abuhamad
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Publication Detail:
Type:  Journal Article; Multicenter Study    
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 Jan 
Date Detail:
Created Date:  2003-01-13     Completed Date:  2003-04-15     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8211547     Medline TA:  J Ultrasound Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  33-8     Citation Subset:  IM    
Department of Obstetrics and Gynecology, University of Colorado School of Medicine, Denver, CO 80262, USA.
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MeSH Terms
Down Syndrome / ultrasonography*
Fetus / anatomy & histology
Maternal Age
Poisson Distribution
Pregnancy Trimester, Second
Pregnancy, High-Risk*
Sensitivity and Specificity
Ultrasonography, Prenatal*

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