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Related Experiment Videos

Urinary multiple marker screening for Down's syndrome

H S Cuckle1, R K Iles, I K Sehmi

  • 1Institute of Epidemiology and Health Services Research, Research School of Medicine, University of Leeds, U.K.

Prenatal Diagnosis
|August 1, 1995
PubMed
Summary
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Maternal urine screening for Down's syndrome shows promise. Measuring beta-core human chorionic gonadotrophin (hCG) and total oestrogen (tE) in urine can detect Down's syndrome with high accuracy.

Area of Science:

  • Biochemistry
  • Genetics
  • Maternal-fetal Medicine

Background:

  • Maternal serum screening is standard for Down's syndrome.
  • Urine-based markers offer a non-invasive alternative.
  • Identifying reliable urinary biomarkers is crucial for improved prenatal screening.

Purpose of the Study:

  • To evaluate the efficacy of multiple urinary markers for Down's syndrome screening.
  • To compare urine-based markers with traditional serum screening methods.
  • To assess the diagnostic potential of beta-core hCG, total oestrogen (tE), and free alpha-hCG in maternal urine.

Main Methods:

  • Analysis of maternal urine samples from Down's syndrome cases and controls.
  • Quantification of beta-core hCG, total oestrogen (tE), and free alpha-hCG.

Related Experiment Videos

  • Correction of marker levels for creatinine excretion and expression as multiples of the median (MOM).
  • Application of a mathematical model to estimate detection rates and false-positive rates.

    • Main Results:

    • Significant increase in beta-core hCG (P < 0.0001) and decrease in tE (P < 0.005) in Down's syndrome cases.
    • Free alpha-hCG levels did not show significant changes (P = 0.40).
    • A combined model of beta-core hCG and tE achieved an 82.3% detection rate with a 5% false-positive rate.

    Conclusions:

    • Maternal urine contains significant markers for Down's syndrome screening.
    • Beta-core hCG and tE are promising biomarkers for non-invasive prenatal diagnosis.
    • Urine-based screening could offer a viable alternative to serum screening for Down's syndrome.