Antenatal screening for Down's syndrome with the quadruple test

Area of Science:

• Medical screening
• Prenatal diagnostics
• Genetics

Background:

• Second trimester screening for Down's syndrome is a common global practice.
• Existing screening methods have varying detection and false-positive rates.

Purpose of the Study:

• To evaluate the performance of the quadruple test for second trimester Down's syndrome screening.
• To compare the quadruple test's efficacy against maternal age alone and other second trimester screening methods.

Main Methods:

• A large-scale prospective study involving 46,193 pregnancies across 14 hospitals over 5 years.
• Utilized antenatal serum screening with the quadruple test.
• Offered diagnostic amniocentesis or chorionic villus sampling for positive screening results (risk > or = 1 in 300).

Main Results:

• The quadruple test achieved an 81% detection rate for Down's syndrome (95% CI 72-89) among 88 affected pregnancies.
• A false-positive rate of 7% was observed in 46,105 unaffected pregnancies.
• Demonstrated significantly higher detection rates (81% vs. 51%) and lower false-positive rates (7% vs. 14%) compared to maternal age alone.

Conclusions:

• The quadruple test is a highly effective method for second trimester Down's syndrome screening.
• It outperforms maternal age estimation and other available second trimester screening tests.
• The quadruple test is recommended as the preferred screening method for Down's syndrome in the second trimester.