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Proteomics and Down syndrome screening: a validation study.
M P H Koster1, J L A Pennings, S Imholz
1Laboratory for Infectious Diseases and Perinatal Screening, National Institute for Public Health and the Environment, Bilthoven, The Netherlands. Wendy.Koster@rivm.nl
Prenatal Diagnosis
|September 10, 2010
Summary
This study validated potential Down syndrome (DS) screening markers. Only epidermal growth factor (EGF) showed significant promise, improving DS detection rates when added to existing screening methods.
Area of Science:
- Biochemistry
- Genetics
- Maternal-Fetal Medicine
Background:
- Previous discovery study identified seven potential Down syndrome (DS) screening markers.
- Need for validation of these markers to assess their clinical utility.
Purpose of the Study:
- To validate the discriminative potential of seven previously identified markers for Down syndrome (DS).
- To assess the added value of these markers to current DS screening protocols.
Main Methods:
- Maternal serum samples from 27 DS pregnancies and 27 matched controls were analyzed.
- Bead-based multiplexed immunoassays were used to measure analyte concentrations.
- Prediction models were developed and tested using discovery and validation datasets.
Main Results:
- Epidermal growth factor (EGF) was the only marker showing a significantly higher fold ratio between DS and controls.
- Adding EGF to current screening markers (PAPP-A, fβ-hCG, NT) improved DS detection rate by 5.7% at a 5% false-positive rate.
Conclusions:
- Validation confirmed EGF as a promising biomarker for Down syndrome (DS) screening.
- This study highlights the critical importance of biomarker validation in refining diagnostic approaches.
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