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Related Experiment Videos

First trimester screening: the BUN study.

Ronald J Wapner1

  • 1Department of Obstetrics and Gynecology, Drexel University College of Medicine, Philadelphia, PA 19102, USA. rw2191@columbia.edu

Seminars in Perinatology
|August 18, 2005
PubMed
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First trimester screening for trisomies 21 and 18 shows promising detection rates. Combining first and second trimester screening may improve accuracy while minimizing invasive procedures.

Area of Science:

  • Maternal-Fetal Medicine
  • Prenatal Diagnostics
  • Genetics

Background:

  • First trimester risk assessment for trisomies 21 and 18 is increasingly adopted in clinical practice.
  • The BUN study was designed to assess the real-world performance of early screening methods.

Purpose of the Study:

  • To evaluate the effectiveness of first trimester screening using PAPP-A, free beta HCG, and nuchal translucency (NT) measurements.
  • To assess the performance of NT measurements by sonographers after training.

Main Methods:

  • Over 8500 patients were evaluated across 13 prenatal diagnostic centers.
  • First trimester screening involved PAPP-A, free beta HCG, and NT ultrasound.
  • Second trimester serum analytes were obtained in a subset of patients.

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Main Results:

  • An 85.2% detection rate for trisomy 21 was achieved with a 9.4% false positive rate.
  • Sonographer NT measurements were consistent with established standards after training.
  • Second trimester screening improved trisomy 21 detection but increased the false positive rate.

Conclusions:

  • First trimester screening is a viable method for assessing trisomy risk.
  • A sequential contingency approach, integrating first and second trimester data, may optimize detection rates and minimize false positives.