Interpretation of false positive results of biochemical prenatal tests

Abstract

Summary Modern, non-invasive prenatal diagnostics based on biochemical and ultrasonographic markers of fetal defects allows us to calculate the risk of fetal chromosomal aneuploidies with high sensitivity and specificity. An introduction of biochemical, non-invasive prenatal tests turned out to result in frequent false positive results of these tests in cases when invasive diagnostics does not confirm fetal defects. However, prospective analysis of these cases showed numerous complications in the third trimester of the pregnancies.