Document Detail


Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome.
MedLine Citation:
PMID:  11943798     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVES: To design a reliable model in the context of prenatal screening for assigning the risk in an individual pregnancy of Smith-Lemli-Opitz syndrome (SLOS) and assess its performance.
SETTING: A 2nd trimester screening programme for Down's syndrome that measures unconjugated estriol (uE3) along with other serum markers.
METHODS: Development of individual risk estimates with a trivariate model incorporating measurements of maternal serum uE3, alpha-fetoprotein (AFP), and human chorionic gonadotropin (hCG) in both SLOS and unaffected pregnancies.
RESULTS: Population parameters were computed for the three analytes, as were pairwise correlation coefficients and truncation limits, based on an unbiased collection of 29 affected pregnancies. Published parameters were used for unaffected pregnancies. With a cut off level of risk of 1:50, 62% of SLOS pregnancies can be detected by initially identifying 0.34% of unaffected pregnancies as screen positive. About 1 in 90 screen positive pregnancies will be affected.
CONCLUSIONS: It is possible to screen for SLOS as an add on to existing 2nd trimester maternal serum screening, if uE3 is already being measured. A large, prospective trial is necessary to determine whether diagnostic testing can be performed in maternal urine or serum rather than amniotic fluid.
Authors:
G E Palomaki; L A Bradley; G J Knight; W Y Craig; J E Haddow
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of medical screening     Volume:  9     ISSN:  0969-1413     ISO Abbreviation:  J Med Screen     Publication Date:  2002  
Date Detail:
Created Date:  2002-04-10     Completed Date:  2002-10-03     Revised Date:  2014-07-28    
Medline Journal Info:
Nlm Unique ID:  9433359     Medline TA:  J Med Screen     Country:  England    
Other Details:
Languages:  eng     Pagination:  43-4     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Biological Markers / blood*
Chorionic Gonadotropin / blood*
Down Syndrome / diagnosis*
Estriol / blood*
Female
Humans
Pregnancy
Prenatal Diagnosis / methods*
Smith-Lemli-Opitz Syndrome / diagnosis*
alpha-Fetoproteins / analysis*
Grant Support
ID/Acronym/Agency:
R01 HD38940/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/Biological Markers; 0/Chorionic Gonadotropin; 0/alpha-Fetoproteins; FB33469R8E/Estriol

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


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