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Related Concept Videos

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Sequential testing for Down syndrome: the impact on estimated risk.

Stephen T Chasen1, Shane Wasden

  • 1Weill Medical College of Cornell University, Department of Obstetrics and Gynecology, New York, NY, USA. stchasen@med.cornell.edu

Prenatal Diagnosis
|March 16, 2012
PubMed
Summary
This summary is machine-generated.

Sequential testing effectively reduces estimated Down syndrome risk, particularly when initial first-trimester screening shows lower risk. This approach refines risk assessment for expectant parents.

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Area of Science:

  • Prenatal diagnostics
  • Maternal-fetal medicine
  • Genetics

Background:

  • First-trimester screening is a common method for assessing Down syndrome risk.
  • Sequential screening offers a follow-up assessment to refine risk estimations.
  • Understanding the utilization and impact of sequential testing is crucial for improving prenatal care.

Purpose of the Study:

  • To describe the utilization patterns of sequential screening in prenatal diagnostics.
  • To evaluate how sequential screening impacts the estimated risk for Down syndrome.
  • To analyze the relationship between initial risk and the effectiveness of sequential testing.

Main Methods:

  • Retrospective review of records for patients undergoing first-trimester screening over a 3-year period.
  • Comparison of adjusted first-trimester Down syndrome risk with adjusted risk after sequential testing.
  • Statistical analysis using Fisher's exact test and chi-square for trend.

Main Results:

  • Sequential testing was utilized in 34.0% of 12,557 patients.
  • Sequential testing increased Down syndrome risk in 13.1% of cases, with a doubling of risk in 5.2%.
  • The likelihood of increased risk with sequential testing decreased as initial first-trimester risk declined (p < .001).

Conclusions:

  • Sequential screening generally lowers estimated Down syndrome risk.
  • The effectiveness of risk reduction through sequential testing is more pronounced with lower initial first-trimester risk.
  • Sequential testing provides a valuable tool for refining Down syndrome risk assessment in pregnancy.