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Related Experiment Videos

Four-marker serum screening for Down's syndrome

N J Wald1, J W Densem, D Smith

  • 1Department of Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, St Bartholomew's Hospital Medical College, London, U.K.

Prenatal Diagnosis
|August 1, 1994
PubMed
Summary
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Measuring free alpha-hCG and free beta-hCG alongside AFP and uE3 improves Down

Area of Science:

  • Prenatal diagnostics
  • Biochemistry
  • Genetics

Background:

  • Maternal serum screening is crucial for detecting Down's syndrome.
  • Conventional screening uses alpha-fetoprotein (AFP), unconjugated oestriol (uE3), and total human chorionic gonadotrophin (hCG).
  • The utility of individual hCG sub-units (free alpha-hCG and free beta-hCG) in screening is less understood.

Purpose of the Study:

  • To evaluate the performance of a four-marker serum screening test for Down's syndrome.
  • To compare the efficacy of using free alpha-hCG and free beta-hCG versus total hCG in prenatal screening.
  • To assess the impact on detection rates and false-positive rates between 15 and 22 weeks of gestation.

Main Methods:

  • Retrospective analysis of stored serum samples from pregnancies with and without Down's syndrome.

Related Experiment Videos

  • Inclusion of maternal age, AFP, uE3, free alpha-hCG, and free beta-hCG as screening markers.
  • Comparison with the conventional triple test (AFP, uE3, total hCG) and maternal age.

    • Main Results:

    • The four-marker test (AFP, uE3, free alpha-hCG, free beta-hCG) achieved a 65% detection rate for Down's syndrome at a 5% false-positive rate, compared to 59% with the triple test.
    • When gestation was determined by ultrasound, the four-marker test yielded a 72% detection rate versus 67% for the triple test.
    • Maintaining a 60% detection rate, the four-marker test reduced the false-positive rate from 3% to 2% compared to the triple test.

    Conclusions:

    • Incorporating free alpha-hCG and free beta-hCG significantly enhances the performance of serum screening for Down's syndrome.
    • The four-marker test offers improved detection rates and/or reduced false-positive rates compared to the conventional triple test.
    • This improved screening can lead to more accurate prenatal diagnosis and better patient management.