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

Prenat Diagn. 2009 Jun;29(6):588-92. doi: 10.1002/pd.2247.

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.

MeSH terms

  • Adolescent
  • Adult
  • Chorionic Gonadotropin, beta Subunit, Human / blood
  • Down Syndrome / diagnosis*
  • Female
  • Humans
  • Mass Screening / methods*
  • Middle Aged
  • Netherlands
  • Nuchal Translucency Measurement
  • Pregnancy
  • Pregnancy Trimester, First*
  • Pregnancy-Associated Plasma Protein-A / analysis
  • Young Adult

Substances

  • Chorionic Gonadotropin, beta Subunit, Human
  • Pregnancy-Associated Plasma Protein-A