Effect of a new marker, ADAM12, on Down risk figures in first trimester screening

Abstract

Objective: To investigate whether incorporating the measurement of ADAM12 in the risk calculation program LifeCycle, can improve Down screening in the first trimester.

Methods: In a retrospective case control study, maternal serum ADAM12 concentrations were measured and compared in Down syndrome cases (n = 53) and in controls (n = 226) obtained from first trimester (9-12 weeks) screening samples in Oulu and Kuopio University Hospitals. Median concentration ( microg/l), observed and regressed (weight corrected) MoMs of ADAM12 were calculated.

Results: There was a significant difference in ADAM12 levels between Downs and controls during the pregnancy weeks 9 + 0 to 10 + 6, but not thereafter. By adding ADAM12 to the marker set used in the risk calculation program, one screening false negative Down syndrome case occurred in the affected population, which did not alter false positive rate.

Conclusion: Adding ADAM12 as a parameter in Down screening did not cause radical changes in the risk value. The test might be useful at 9 and 10 weeks in which it might have the potential to improve the performance of the risk assessment especially for women receiving a result close to the high-risk cut-off. The real influence of ADAM12 remains to be elucidated in larger studies incorporating ADAM12 to the risk calculation program.