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Modeling Down syndrome screening performance using first-trimester serum markers.

M P H Koster1, E J Wortelboer, P Stoutenbeek

  • 1Laboratory for Infectious Diseases and Screening, National Institute for Public Health and Environment (RIVM), Bilthoven, The Netherlands. wendy.koster@rivm.nl

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
|July 30, 2011
PubMed
Summary
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New markers and screening strategies significantly improve Down syndrome detection rates in the first trimester. A two-sample approach shows the highest potential for early detection of Down syndrome.

Area of Science:

  • Prenatal screening
  • Biochemistry
  • Genetics

Background:

  • Current first-trimester screening for Down syndrome relies on markers like PAPP-A, free β-hCG, and NT.
  • Evaluating novel markers and strategies is crucial for enhancing detection rates and reducing false positives.

Purpose of the Study:

  • To assess the predictive value of existing and novel screening markers for Down syndrome.
  • To compare different screening strategies for optimizing Down syndrome detection in the first trimester.

Main Methods:

  • Serum samples from 151 Down syndrome cases and 847 controls were analyzed for PAPP-A, free β-hCG, ADAM12, total hCG, PP13, and PlGF.
  • Marker levels were expressed as multiples of the median (MoMs) and analyzed using the Mann-Whitney U-test.
  • Detection rates (DRs) were modeled for fixed false-positive rates (FPRs) using various screening strategies.

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Main Results:

  • Significant differences in median MoMs were observed for PAPP-A, free β-hCG, ADAM12, total hCG, PlGF, and NT between Down syndrome cases and controls.
  • Adding new markers to the combined first-trimester test increased DR from 77% to 80% at a 5% FPR.
  • A two-sample screening strategy increased DR to 89%, while a contingent screening model achieved 77% DR with reduced NT referrals.

Conclusions:

  • Incorporating new markers and employing advanced screening strategies can enhance first-trimester Down syndrome screening.
  • A two-sample screening model demonstrated the highest predicted detection rate and warrants further validation in prospective studies.