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Multiple marker screening for Down syndrome--whom should we screen?
The Journal of the American Board of Family Practice
|October 26, 1999
Summary
The multiple marker test for Down syndrome has a 56% detection rate and 7% false-positive rate. Screening women over 30 is most cost-effective, but physicians must counsel patients on risks.
Area of Science:
- Prenatal screening and genetics
Background:
- The multiple marker test presents challenges for family physicians due to complexity and patient/physician understanding.
- Concerns include limited test sensitivity, increased maternal anxiety, and risks associated with amniocentesis following false positives.
Purpose of the Study:
- To review the burden of Down syndrome.
- To evaluate the efficacy, cost-effectiveness, and psychological impact of screening for Down syndrome.
Main Methods:
- A literature search identified English-language articles on Down syndrome burden, screening efficacy, cost-effectiveness, and psychological effects.
Main Results:
- Down syndrome occurs in 0.99 per 1000 births, with risk increasing with maternal age.
- The multiple marker test shows a 56% detection rate and a 7% false-positive rate.
- A 1:190 cutoff optimizes detection and minimizes false positives; screening women over 30 is most cost-effective.
Conclusions:
- Improved outlook for individuals with Down syndrome due to better care and societal integration.
- Family physicians must provide comprehensive, nondirective pretest counseling regarding screening nature, purpose, and risks, including psychological effects.