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Advances in antenatal screening for Down syndrome
1Department of Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, St Bartholomew's and The Royal London School of Medicine and Dentistry, Charterhouse Square, London, EC1M 6BQ, UK.
Bailliere'S Best Practice & Research. Clinical Obstetrics & Gynaecology
|September 14, 2000
Summary
Maternal age alone is insufficient for Down Syndrome screening. Integrated screening, combining first and second trimester tests, offers the highest detection rate (94%) with a low false-positive rate.
Area of Science:
- Prenatal diagnosis
- Genetics
- Obstetrics
Background:
- Maternal age alone is an inadequate standard for Down Syndrome antenatal screening.
- Current screening methods include first and second trimester tests with varying detection and false-positive rates.
Purpose of the Study:
- To evaluate the effectiveness of different antenatal screening methods for Down Syndrome.
- To identify the most accurate screening approach for detecting Down Syndrome.
Main Methods:
- Review of screening tests including quadruple test (second trimester), first-trimester screening (biochemical markers PAPP-A, free beta-hCG, and nuchal translucency), and integrated screening.
- Comparison of detection rates and false-positive rates for each method.
Main Results:
- Second-trimester quadruple test: 76% detection rate, 5% false-positive rate.
- First-trimester screening: 85% detection rate, 5% false-positive rate.
- Integrated screening: 94% detection rate at 5% false-positive rate, or 85% detection rate at 1% false-positive rate.
Conclusions:
- The integrated screening test is the most effective method for Down Syndrome antenatal screening.
- Integrated screening offers superior detection rates with acceptably low false-positive rates compared to other methods.