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Related Experiment Videos

First-trimester Down syndrome screening: component analytes and timing for optimal performance.

Katharine D Wenstrom1

  • 1Department of Obstetrics and Gynecology, The University of Alabama at Birmingham, Birmingham, AL 35233, USA. kwenst@uab.edu

Seminars in Perinatology
|August 18, 2005
PubMed
Summary

The most effective Down syndrome screening uses maternal serum markers PAPP-A, free beta hCG, and fetal nuchal translucency (NT) at 11 weeks. Optimizing NT measurement and using gestational age-adjusted cut-offs improve screening accuracy.

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Area of Science:

  • Maternal-fetal medicine
  • Prenatal diagnostics
  • Genetics

Background:

  • First-trimester screening is crucial for Down syndrome (DS) risk assessment.
  • Current protocols utilize maternal serum PAPP-A, free beta hCG, and fetal nuchal translucency (NT).

Purpose of the Study:

  • To define the optimal gestational age and methodological considerations for first-trimester Down syndrome screening.
  • To evaluate factors influencing the accuracy of combined screening markers.

Main Methods:

  • Analysis of maternal serum PAPP-A and free beta hCG levels.
  • Measurement of fetal nuchal translucency (NT) at specific gestational ages.
  • Assessment of NT measurement techniques and adjusted cut-offs.

Main Results:

Related Experiment Videos

  • Eleven weeks is the optimal gestational age for combined first-trimester DS risk assessment.
  • PAPP-A and NT perform best at 10 and 11 weeks, respectively; free beta hCG discrimination improves up to 13 weeks.
  • Consistent NT measurement, adjusted cut-offs, and operator-specific medians enhance screening performance.

Conclusions:

  • The optimal first-trimester Down syndrome screening protocol involves PAPP-A, free beta hCG, and NT at 11 weeks.
  • Accurate NT measurement and appropriate adjustments are key to maximizing screening accuracy.
  • Enlarged NT warrants further investigation for potential fetal anomalies.