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[Down syndrome screening by ultrasound].

P Rozenberg1

  • 1Service de gynécologie-obstétrique, hôpital de Poissy, CHI Poissy-Saint-Germain (université Versailles-Saint-Quentin),10, rue du Champ-Gaillard, BP 3082, 78300 Poissy cedex, France. prozenberg@chi-poissy-st-germain.fr

Gynecologie, Obstetrique & Fertilite
|July 12, 2005
PubMed
Summary

Nuchal translucency ultrasound screening can detect Down syndrome with 70% sensitivity in the general population. Training is essential for accurate and reproducible measurements, improving early detection rates.

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Area of Science:

  • Prenatal diagnostics
  • Fetal medicine
  • Genetics

Background:

  • Nuchal translucency (NT) is a marker for fetal aneuploidy.
  • Previous studies focused on high-risk populations, limiting generalizability.
  • NT thickness increases with gestational age.

Purpose of the Study:

  • To assess the performance of NT measurement as a screening tool for Down syndrome in the general population.
  • To evaluate the sensitivity and false positive rate of NT screening.
  • To determine the impact of maternal age adjustment on screening performance.

Main Methods:

  • Prospective studies analyzing NT measurements in a general obstetric population.
  • Inclusion of approximately 125,000 pregnancies.
  • Evaluation of screening performance metrics (sensitivity, false positive rate).

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Main Results:

  • Global sensitivity for Down syndrome detection was 70% with a 5% false positive rate.
  • Adjusting for maternal age increased the detection rate to 77%.
  • Reproducibility of NT measurements in the general population remains a concern.

Conclusions:

  • Nuchal translucency measurement is an effective early screening tool for Down syndrome.
  • Standardized training is crucial for ensuring accurate and reproducible NT measurements.
  • Further research may be needed to address inter-observer variability.