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Related Experiment Videos

First-trimester screening for chromosomal abnormalities.

Kypros H Nicolaides1

  • 1Harris Birthright Research Centre for Fetal Medicine, King's College, London University, London, UK. Kypros@fetalmedicine.com

Seminars in Perinatology
|August 18, 2005
PubMed
Summary

First-trimester screening effectively identifies major chromosomal abnormalities using fetal nuchal translucency (NT) and maternal serum markers. A risk-based approach further enhances detection rates for trisomy 21 and other conditions.

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Area of Science:

  • Prenatal Diagnosis
  • Maternal-Fetal Medicine
  • Genetics

Background:

  • First-trimester screening for chromosomal abnormalities is well-established.
  • First-trimester chorionic villus sampling (CVS) carries a miscarriage risk comparable to second-trimester amniocentesis.

Purpose of the Study:

  • To evaluate the effectiveness of first-trimester screening for major chromosomal abnormalities.
  • To assess the efficacy of a risk-oriented, two-stage screening approach.

Main Methods:

  • Screening combines fetal nuchal translucency (NT) measurement with maternal serum free-beta-human chorionic gonadotropin (hCG) and pregnancy-associated plasma protein-A (PAPP-A).
  • A risk-oriented, two-stage approach categorizes patients into high, low, and intermediate-risk groups.
  • Intermediate-risk cases undergo further ultrasound assessment (nasal bone, tricuspid regurgitation, ductus venosus Doppler).

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Main Results:

  • Combined NT and serum marker screening identifies 90% of trisomy 21 cases with a 5% false-positive rate.
  • This method significantly outperforms maternal age (30% detection) and second-trimester screening (65% detection).
  • The two-stage approach aims to further improve screening effectiveness.

Conclusions:

  • First-trimester screening is a highly effective method for detecting major chromosomal abnormalities.
  • A risk-oriented, two-stage approach offers potential for enhanced screening accuracy.
  • Appropriate training and external quality assurance are crucial for first-trimester scan performance.