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Related Experiment Videos

Practical strategies in contingent sequential screening for Down syndrome.

Peter Benn1, Dave Wright, Howard Cuckle

  • 1Department of Genetics and Developmental Biology, University of Connecticut, Health Center, Farmington, CT 06030-6140, USA. benn@nso1.uchc.edu

Prenatal Diagnosis
|July 29, 2005
PubMed
Summary

Contingent sequential screening effectively identifies Down syndrome pregnancies with high detection rates and low false positives. This approach enhances early detection and reduces the need for second-trimester testing.

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Area of Science:

  • Prenatal diagnostics
  • Genetics
  • Maternal-fetal medicine

Background:

  • Down syndrome screening is crucial for prenatal care.
  • Existing screening methods have limitations in detection rates and false positives.
  • Sequential screening offers a potential improvement over traditional methods.

Purpose of the Study:

  • To design and evaluate contingent sequential Down syndrome screening protocols.
  • To assess the performance of these protocols for practical implementation.
  • To compare protocol performance between the United Kingdom and the United States.

Main Methods:

  • Developed contingent sequential protocols using first-trimester nuchal translucency (NT) and maternal serum markers (PAPP-A, hCG).
  • Incorporated second-trimester markers (AFP, hCG, estriol, inhibin-A) for women with borderline risks.

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  • Utilized multivariate Gaussian modeling and Monte Carlo simulation for performance estimation.

    • Main Results:

    • Achieved 91% detection rate and 2.1% false-positive rate (UK); 89% detection rate and 3.1% false-positive rate (US).
    • Over 60% of affected pregnancies detected in the first trimester.
    • Less than 20% of women required second-trimester assessment.

    Conclusions:

    • Contingent sequential protocols offer highly effective Down syndrome screening.
    • Appropriate patient counseling is essential for successful implementation.
    • These protocols can be adapted for different healthcare systems (UK/US).