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Related Experiment Videos

First-trimester biochemical screening for Down syndrome.

Y Yaron1, R Mashiach

  • 1Prenatal Diagnosis Unit, Genetic Institute and Department of Obstetrics and Gynecology, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. yyaron@post.tau.ac.il

Clinics in Perinatology
|August 14, 2001
PubMed
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First-trimester screening for Down syndrome (DS) uses PAPP-A and free beta-hCG. The integrated test shows higher detection rates but requires further study for feasibility.

Area of Science:

  • Prenatal Diagnostics
  • Biochemical Markers
  • Fetal Medicine

Background:

  • First-trimester screening is crucial for early Down syndrome (DS) detection.
  • Biochemical markers like PAPP-A and free beta-hCG are key components.
  • Nuchal translucency (NT) measurement is a primary sonographic marker.

Purpose of the Study:

  • To evaluate the predictive value of biochemical markers for Down syndrome.
  • To compare the performance of combined and integrated screening tests for DS.
  • To assess the potential of advanced screening protocols.

Main Methods:

  • Analysis of pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotropin (free beta-hCG) levels.
  • Utilizing nuchal translucency (NT) measurements in combined screening.

Related Experiment Videos

  • Integrating first and second-trimester markers for the integrated test.

    • Main Results:

    • PAPP-A and free beta-hCG are the most predictive first-trimester biochemical markers for DS.
    • The combined test achieves 80-85% DS detection at a 5% false-positive rate.
    • The integrated test may achieve 94% DS detection at a 5% false-positive rate.

    Conclusions:

    • Biochemical markers significantly enhance Down syndrome screening accuracy.
    • The integrated test offers superior detection rates compared to the combined test.
    • Further research is needed to establish the acceptability and feasibility of the integrated screening approach.