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Comparison of risk calculation approaches in a screening programme for Down syndrome
Maria P H Koster1, Kirsten M Heetkamp, Esteriek de Miranda
1Laboratory for Infectious Diseases and Screening, National Institute for Public Health and the Environment, Bilthoven, The Netherlands.
Harmonizing Down syndrome screening in the Netherlands improved risk calculation conformity between LifeCycle Elipse (LC) and Astraia software. This enhances the reliability of first-trimester screening for pregnant women.
Area of Science:
- Prenatal screening
- Maternal serum screening
- Fetal medicine
Background:
- Discrepancies in Down syndrome risk calculations exist between LifeCycle Elipse (LC) and Astraia software used in the Netherlands.
- This variability can lead to inconsistent risk assessments for pregnant women.
Purpose of the Study:
- To evaluate the conformity of Down syndrome risk calculations between LC and Astraia software before and after harmonization.
- To assess the influence of harmonization on first-trimester screening performance indicators.
Main Methods:
- Comparison of combined risks derived from biochemical markers (PAPP-A, fβ-hCG) and nuchal translucency measurements.
- Statistical analysis using intraclass correlation coefficient (ICC) and Cohen's kappa (κ).
- Evaluation of screening performance using area under the ROC curve and odds of being affected given a positive result (OAPR).
Main Results:
- High agreement between combined risks (ICC=0.99).
- Improved conformity after harmonization (Cohen's κ=0.75) compared to before (Cohen's κ=0.63).
- Similar screening performance for both software packages (Area under ROC curve=0.84), with LC slightly outperforming Astraia in OAPR before harmonization.
Conclusions:
- Harmonization significantly improved the conformity of Down syndrome risk calculations between the two software packages.
- While screening performance indicators were similar, harmonization is expected to further enhance agreement.
- Standardizing software is crucial for consistent prenatal screening outcomes.
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