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JOURNAL ARTICLE
REVIEW
Biochemical screening for Down syndrome.
Maternal serum screening for Down syndrome is an established practise in many countries. In the second trimester human chorionic gonadotrophin (hCG) or free beta-hCG is the marker of first choice, with alpha-fetoprotein (AFP) as the second marker and unconjugated oestriol (uE(3)) the third. Statistical models with parameters derived by meta-analysis predict that a three marker combination will yield a 67% detection rate for a 5% false-positive rate. The model prediction have been confirmed in 21 large prospective intervention studies. A fourth marker, inhibin A, increases the detection rate by 7% for the same false-positive rate. In the first trimester, similar models predict that a combination of pregnancy associated plasma protein A, free beta-hCG, AFP and uE(3) will yield a 70% detection rate. This is increased to 88% if ultrasound nuchal translucency is used as an additional marker. Screening can also be extended to Edwards' syndrome, yielding high detection rates with little increase in the false-positive rate. Abnormal marker levels are also associated with a variety of adverse outcomes of pregnancy. High quality information and decision aids are needed to minimise anxiety among screenees.
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