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A prospective study evaluating the performance of first trimester combined screening for trisomy 21 using repeated sampling of the maternal serum markers PAPP-A and free β-hCG.
MedLine Citation:
PMID:  22807155     Owner:  NLM     Status:  Publisher    
Objective: To prospectively evaluate the screening performance of first trimester combined screening for trisomy 21 using a double set of the biochemical markers PAPP-A and free β-hCG Methods: Three fetal medicine departments in Denmark participated in the study. Screening for trisomy 21 was set up as a two-step approach with blood sampling performed before the nuchal translucency scan (early sample). A second blood sample was collected at the time of the nuchal translucency scan (late sample). PAPP-A and free β-hCG were measured on both the early and the late samples. Age standardised detection and false positive rates for different screening protocols were produced. Results: We collected two blood samples in 27 pregnancies affected by trisomy 21 and in 3891 control pregnancies. The early samples were taken between gestational week 8 + 0 up to week 13 + 6, and the late samples between week 11 + 3 up to week 14 + 6. The median interval between the samples was 17 days (range 1-40 days). We found a significantly better (P<0.05) estimated screening performance when using early sampling vs. late sampling. With a risk cut-off of 1 in 100, at the time of the risk assessment, the estimated detection and false positive rates when using the early sample were 91% (95% CI: 81-98%) and 1.6 % (95% CI: 1.3-2.0%) respectively. For fixed false positive rates the highest detection rates were achieved using both blood samples. When comparing early sampling versus double sampling there was no significant difference on screening performance. Conclusion: Using early sampling with measurement of PAPP-A and free β-hCG in the combined first trimester screening can optimise screening performance for trisomy 21. Using a double set of the maternal serum markers has the potential to further improve screening performance, but larger studies are needed to confirm this trend. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.
Charlotte Ekelund; Dave Wright; Susan Ball; Ida Kirkegaard; Pernille Nørgaard; Steen Sørensen; Lennart Friis-Hansen; Finn Stener Jørgensen; Niels Tørring; Bodil Hammer Bech; Olav Bjørn Petersen; Ann Tabor
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-7-17
Journal Detail:
Title:  Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology     Volume:  -     ISSN:  1469-0705     ISO Abbreviation:  -     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-7-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9108340     Medline TA:  Ultrasound Obstet Gynecol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.
Fetal Medicine Unit, Department of Obstetrics, Rigshospitalet, Copenhagen University Hospital, Denmark.
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