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Updated: Jun 24, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
First-trimester Down syndrome screening performance in the Dutch population; how to achieve further improvement?
E J Wortelboer1, M P H Koster, Ph Stoutenbeek
1Department of Obstetrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Lundlaan 6, 3508 AB Utrecht, The Netherlands. E.Wortelboer@umcutrecht.nl
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.
