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Glossary of Down syndrome screening terms

Glossary of Down syndrome screening terms
Term Description
NT measurement The maximum width (in mm) of the translucent space at the back of the fetal neck as determined by ultrasound between 11 and 13 completed weeks of gestation.
Quadruple test An early second-trimester test based on maternal serum measurements: AFP, uE3, free beta-hCG or intact/total hCG, and inhibin A together with maternal age.
Combined test A late first-trimester test based on sonographic and maternal serum measurements: NT, free beta-hCG or intact/total hCG, and PAPP-A together with maternal age.
Integrated test (full) The integration of measurements performed during the first- and second-trimester into a single screening test result. Typically includes first-trimester NT and PAPP-A with the quadruple test in the second trimester together with maternal age. Usually the risk is only provided once all tests have been completed in the second trimester.
Serum integrated test A variation of the integrated test (full) that does not include the ultrasound component of NT. For this test, the risk is only provided once all tests have been completed in the second trimester.
Sequential (integrated) test A variation of the integrated test (full) in which a small proportion (0.5) of the highest risk women (>1:50) are identified as screen positive in the first trimester. The remaining women are provided a risk after all tests have been completed in the second trimester. In some programs, the first-trimester risk is reported to all women, but only those >1:50 are considered screen positive.
NT: nuchal translucency; AFP: alpha-fetoprotein; uE3: unconjugated estriol; hCG: human chorionic gonadotropin; PAPP-A: pregnancy-associated plasma protein A.
Graphic 76911 Version 6.0

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