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Multiple marker screening for Down syndrome--whom should we screen?

S Cate¹, S Ball

¹Central Washington Family Medicine Residency Program, Yakima 98902, USA.

The Journal of the American Board of Family Practice

|October 26, 1999

Summary

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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.

Related Experiment Videos

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.