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Related Experiment Videos

Sequential pathways of testing after first-trimester screening for trisomy 21.

Lawrence D Platt1, Naomi Greene, Anthony Johnson

  • 1Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center and David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA. LPlatt8496@aol.com

Obstetrics and Gynecology
|October 2, 2004
PubMed
Summary

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Second-trimester screening effectively detects trisomy 21 in pregnancies after first-trimester screening. This sequential approach identifies 98% of trisomy 21 cases but may lead to invasive testing in 17% of patients.

Area of Science:

  • Prenatal diagnostics
  • Maternal serum screening
  • Genetics

Background:

  • First-trimester combined screening (nuchal translucency, pregnancy-associated plasma protein A, free beta-hCG) is a common prenatal diagnostic tool.
  • Second-trimester multiple-marker maternal serum screening (alpha-fetoprotein, unconjugated estriol, total hCG) is also utilized for detecting fetal aneuploidies.
  • Sequential screening combines results from both trimesters to refine risk assessment for fetal chromosomal abnormalities.

Purpose of the Study:

  • To evaluate the performance of second-trimester multiple-marker maternal serum screening in women who previously had first-trimester screening for trisomy 21.
  • To assess the detection rates and false-positive rates of this sequential screening approach.
  • To understand the implications of sequential screening on patient risk perception and potential for invasive testing.

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Main Methods:

  • A multicenter study involving 7,392 women undergoing first-trimester screening.
  • Second-trimester screening was performed on 4,145 screen-negative and 813 screen-positive women from the first trimester.
  • Risk calculations used multiples of the median and a standardized algorithm with a cutoff of 1:270.

Main Results:

  • In the first-trimester screen-negative group, second-trimester screening detected 86% of trisomy 21 cases with an 8.9% false-positive rate.
  • In the first-trimester screen-positive group, all trisomy 21 cases were detected in the second trimester, but with a higher false-positive rate of 38.7%.
  • The overall sequential screening program detected 98% of trisomy 21 cases.

Conclusions:

  • Sequential screening, combining first and second-trimester results, can achieve a high detection rate for trisomy 21 (98%).
  • This approach offers patients options for early invasive testing or further serum screening.
  • A significant proportion of patients (17%) may be identified as high-risk, potentially leading to increased invasive testing.