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Related Experiment Videos

Second trimester screening for Down's syndrome: 7 years experience.

J M Beaman1, D J Goldie

  • 1Department of Clinical Biochemistry, Southmead Hospital, Bristol, UK. beaman_j@southmead.swest.nhs.uk

Journal of Medical Screening
|October 27, 2001
PubMed
Summary

This study shows that two-marker prenatal screening for Down syndrome using alpha-fetoprotein (alphaFP) and human chorionic gonadotropin (hCG) is effective. The screening program was widely accepted, identifying most affected pregnancies in the second trimester.

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Area of Science:

  • * Prenatal diagnostics and screening
  • * Maternal serum marker analysis
  • * Genomic and chromosomal abnormality detection

Background:

  • * Second-trimester antenatal screening for Down syndrome is crucial for early detection and management.
  • * Maternal serum markers like alpha-fetoprotein (alphaFP) and human chorionic gonadotropin (hCG) are utilized in screening protocols.
  • * Evaluating the long-term effectiveness and community acceptance of established screening programs is essential.

Purpose of the Study:

  • * To assess the efficacy of a 7-year Down syndrome screening program utilizing alphaFP and total hCG.
  • * To determine the detection rates and false positive rates associated with this two-marker screening approach.
  • * To evaluate the uptake and acceptance of the screening program within the local obstetric population.

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Main Methods:

  • * Analysis of maternal serum samples from 66,631 women between 15-20 weeks gestation over a 7-year period.
  • * Calculation of Down syndrome risk using maternal age, alphaFP, and total hCG levels.
  • * Correlation of screening results with cytogenetic data for outcome determination.

Main Results:

  • * 108 Down syndrome pregnancies were identified out of 66,631 screened women.
  • * A cutoff of 1:250 identified 66.7% of affected pregnancies with a 5.8% false positive rate.
  • * Screening uptake declined from 84% to 59.5% over the study period, with higher detection rates when performed before 17 weeks gestation.

Conclusions:

  • * Two-marker screening with alphaFP and total hCG is an effective method for Down syndrome detection in the second trimester.
  • * The screening program demonstrated wide acceptance within the community during the initial 7 years.
  • * Detection rates are comparable to other second-trimester studies employing similar two-marker strategies.