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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Combined first- and second-trimester screening for Down syndrome: an evaluation of proMBP as a marker.

OBJECTIVES: To estimate the screening performance of different combinations of first- and second-trimester markers, including a new marker, the proform of eosinophil major basic protein (proMBP). METHODS: The population comprised 195 singleton pregnancies with a normal outcome enrolled in the Copenhagen First Trimester Study, in which a serum sample was available from both the first and the second trimester. The performance of different marker combinations was estimated by receiver-operator-characteristics (ROC) analysis using a Monte Carlo simulation and distributions of log(10)MoM markers and their correlations, derived from our normal material and Down syndrome cases from the literature. RESULTS: Using a fixed screen-positive rate (SPR) of 5%, the first-trimester combined test [nuchal translucency (NT), PAPP-A and free beta-hCG] yielded a detection rate (DR) of 76%, and the integrated test (NT, PAPP-A, AFP, hCG, uE3 and inhibin A) yielded a DR of 86%. With a DR of 90%, the best combination was the first-trimester beta-hCG and NT with the second-trimester proMBP and AFP. ProMBP combined with the triple test increased the DR from 62 to 83%, whereas the addition of inhibin A only increased the DR to 69%. CONCLUSION: These results suggest that proMBP may be an important new marker in Down syndrome screening and, in particular, a good substitute for inhibin A.[1]


  1. Combined first- and second-trimester screening for Down syndrome: an evaluation of proMBP as a marker. Rode, L., Wøjdemann, K.R., Shalmi, A.C., Larsen, S.O., Sundberg, K., Nørgaard-Pedersen, B., Christiansen, M., Tabor, A. Prenat. Diagn. (2003) [Pubmed]
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