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Related Experiment Videos

The comprehensive midtrimester test: high-sensitivity Down syndrome test.

Ray Bahado-Singh1, Shohreh Shahabi, Mehmet Karaca

  • 1Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, Connecticut 06520-8063, USA. ray.bahado-singh@yale.edu

American Journal of Obstetrics and Gynecology
|April 23, 2002
PubMed
Summary

A new algorithm for midtrimester Down syndrome detection shows high sensitivity. This comprehensive test is effective for various maternal ages and may serve as a screening alternative to amniocentesis.

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Area of Science:

  • Prenatal diagnostics
  • Biochemistry
  • Medical imaging

Background:

  • Midtrimester Down syndrome screening is crucial for prenatal care.
  • Current methods have limitations in sensitivity and specificity.
  • Developing advanced algorithms can improve detection rates.

Purpose of the Study:

  • To develop a highly sensitive algorithm for midtrimester Down syndrome detection.
  • To evaluate the efficacy of a comprehensive panel of biochemical and ultrasound markers.
  • To assess the algorithm's performance across different maternal age groups.

Main Methods:

  • Utilized urine (hyperglycosylated hCG, beta-core hCG), serum (AFP, hCG, uE3), and ultrasound biometry (nuchal thickness).
  • Applied stepwise logistic regression to identify significant markers.

Related Experiment Videos

  • Developed a multivariate Gaussian algorithm incorporating maternal age for risk assessment.

    • Main Results:

    • Identified nuchal thickness, hyperglycosylated hCG, and beta-core hCG as significant markers (P<.002).
    • Achieved 93.7% sensitivity at a 5% false-positive rate for the overall population.
    • Demonstrated high efficiency in advanced maternal age and younger women, with sensitivities of 92.3% and 100% respectively.

    Conclusions:

    • The comprehensive midtrimester test demonstrates high sensitivity across age groups.
    • Gross anomaly detection is not essential for high performance.
    • The test is a potential low-risk screening tool and an alternative to amniocentesis.