Literature DB >> 19294632

First-trimester Down syndrome screening performance in the Dutch population; how to achieve further improvement?

E J Wortelboer1, M P H Koster, Ph Stoutenbeek, L H Elvers, J G Loeber, G H A Visser, P C J I Schielen.   

Abstract

OBJECTIVE: To study the performance of the first-trimester combined test between 2004 and 2006 compared to a previous period to investigate changes in time and identify reasons for sub-optimal performance.
METHODS: Serum samples were analysed for pregnancy-associated plasma protein A (PAPP-A) and the free beta subunit of human chorionic gonadotrophin (f beta-hCG). Nuchal translucency (NT) was measured between 10 and 14 weeks. Tests were considered screen positive, if their calculated Down syndrome (DS) risk was at least 1 in 250 at term.
RESULTS: A total of 20,293 singleton pregnancies were included in the analysis. The median maternal age fell from 35.7 to 34.3 years. The overall median weight-corrected multiple of the median (MoM) values of PAPP-A and f beta-hCG were 1.12 and 1.03, respectively. The median MoM value of NT was 0.89 and increased from 0.82 to 0.96. Sixty-six DS cases were detected by the screening test. The detection rate (DR) for DS was 75.9%, with a FPR of 3.3%.
CONCLUSION: The performance of the first-trimester test has improved over the years. A better performance of the NT measurement was the main reason, although NT assessment should further be improved. In addition, a better setting of the medians for the biochemical parameters may contribute to a higher DR. (c) 2009 John Wiley & Sons, Ltd.

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Year:  2009        PMID: 19294632     DOI: 10.1002/pd.2247

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  4 in total

Review 1.  First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.

Authors:  S Kate Alldred; Yemisi Takwoingi; Boliang Guo; Mary Pennant; Jonathan J Deeks; James P Neilson; Zarko Alfirevic
Journal:  Cochrane Database Syst Rev       Date:  2017-03-15

2.  Prospective experience with contingent screening strategy for Down syndrome in Estonia.

Authors:  Kai Muru; Mari Sitska; Karin Asser; Aivar Ehrenberg; Helle Karro; Katrin Ounap; Tiia Reimand
Journal:  J Community Genet       Date:  2010-10-02

3.  Gene expression profiling in a mouse model identifies fetal liver- and placenta-derived potential biomarkers for Down Syndrome screening.

Authors:  Jeroen L A Pennings; Wendy Rodenburg; Sandra Imholz; Maria P H Koster; Conny T M van Oostrom; Timo M Breit; Peter C J I Schielen; Annemieke de Vries
Journal:  PLoS One       Date:  2011-04-14       Impact factor: 3.240

4.  Discovery of novel serum biomarkers for prenatal Down syndrome screening by integrative data mining.

Authors:  Jeroen L A Pennings; Maria P H Koster; Wendy Rodenburg; Peter C J I Schielen; Annemieke de Vries
Journal:  PLoS One       Date:  2009-11-24       Impact factor: 3.240

  4 in total

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