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Related Experiment Videos

Maternal serum screening for trisomy 18: assessing different statistical models to optimize detection rates.

D M Kennedy1, V M Edwards, D J Worthington

  • 1Department of Clinical Chemistry, Birmingham Women's Hospital NHS Trust, Edgbaston, Birmingham B15 2TG, UK. david.kennedy@bham-womens.thenhs.com

Prenatal Diagnosis
|August 22, 2000
PubMed
Summary

This study evaluated trisomy 18 screening models using maternal serum markers alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG). The univariate analysis model demonstrated a higher detection rate for trisomy 18 screening.

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Area of Science:

  • Prenatal screening
  • Maternal serum marker analysis
  • Chromosomal abnormality detection

Background:

  • Trisomy 18 screening is crucial for prenatal diagnosis.
  • Maternal serum markers like AFP and hCG are used in screening protocols.
  • Evaluating different analytical models can optimize screening accuracy.

Purpose of the Study:

  • To evaluate three alternative models for trisomy 18 screening.
  • To compare the performance of bivariate and univariate analyses using AFP and hCG.
  • To assess the impact of using population-specific versus published distribution parameters.

Main Methods:

  • Utilized data from 46 affected and 48,150 unaffected pregnancies.
  • Calculated AFP and hCG multiples of the median (MoMs) and their product.

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  • Compared detection and false positive rates for different models and parameter sets.

    • Main Results:

    • A fixed cut-off for AFP and hCG yielded a 28.3% detection rate at 0.5% FPR.
    • The univariate model showed a higher detection rate (32.6%) at 0.5% FPR using published parameters.
    • Locally derived parameters improved the bivariate model's detection rate at higher FPRs but not lower ones.

    Conclusions:

    • Trisomy 18 screening using AFP and hCG is a valuable addition to Down syndrome screening.
    • The univariate analysis model appears slightly more effective for trisomy 18 screening.
    • The choice of distribution parameters can influence screening performance, particularly for the bivariate model.