Document Detail

Second trimester trisomy 21 maternal serum marker screening. Results of a countrywide study of 854,902 patients.
MedLine Citation:
PMID:  12378579     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: In France, maternal serum marker screening is governed by specific legislation. We conducted a study of the countrywide trisomy 21 screening based on second trimester maternal serum markers. METHODS: We reviewed the medical records of 854,902 patients prospectively screened for second trimester maternal serum markers in the 60 authorized laboratories over the two-year period 1997-1998. All patients screened in France were included. The risk of trisomy 21 was calculated from the combination of maternal age and maternal serum markers. The same cut-off (1/250) was used in all laboratories. RESULTS: In 1998, 65% of pregnant women underwent maternal serum screening. In the 837,765 patients under 38 years of age who were screened, 54,321 (6.48%; 5% CI 6.42-6.53%) had a calculated risk >1/250. Of the 884 Down syndrome cases observed, 626 were detected by maternal serum markers (70.8%; 5% CI 67.8-73.8%). These good results can be explained by a strict quality control of all steps. For the 13,891 patients over 38 years of age, the Down syndrome detection rate was 98.9% for a 34% false-positive rate. CONCLUSIONS: Strict rules covering prenatal trisomy 21 screening are of benefit to patients, practitioners and laboratories alike, and ensure good quality control, a high trisomy 21 detection rate and a low amniocentesis rate.
Françoise Muller; François Forestier; Bernard Dingeon;
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  22     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2002 Oct 
Date Detail:
Created Date:  2002-10-14     Completed Date:  2002-12-30     Revised Date:  2004-11-18    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  925-9     Citation Subset:  IM    
Copyright Information:
Copyright 2002 John Wiley & Sons, Ltd.
Biochimie, Hôpital Ambroise Paré, Université Paris V, France.
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MeSH Terms
Biological Markers / blood*
Down Syndrome / blood,  diagnosis*
Mass Screening
Maternal Age
Neural Tube Defects / diagnosis
Pregnancy Trimester, Second
Pregnancy, High-Risk
Prenatal Diagnosis*
Quality Control
Risk Factors
Reg. No./Substance:
0/Biological Markers
Comment In:
Community Genet. 2003;6(1):3-4   [PMID:  12792167 ]

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