First-trimester biochemical screening for down syndrome

Yuval Yaron*, Roy Mashiach

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Of all markers evaluated for first-trimester biochemical screening for Down syndrome (DS), PAPP-A and free β-hCG emerged as the most predictive. The combined test uses these markers in conjunction with nuchal translucency measurements, and is estimated to achieve a DS detection rate of 80% to 85% at a 5% false-positive rate. The integrated test, combining first-trimester sonographic and biochemical markers with second-trimester markers, provides a single estimate of a patients DS risk, and may yield a DS detection rate of 94% at a 5% false-positive rate. The acceptability and feasibility of this test, however, remain to be proved.

Original languageEnglish
Pages (from-to)321-331
Number of pages11
JournalClinics in Perinatology
Issue number2
StatePublished - 2001


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