Placental growth hormone and growth hormone binding protein are first trimester maternal serum markers of Down syndrome

Background Placental growth hormone (PGH) is synthesised by the placenta, and its function is modulated by growth hormone binding protein (GHBP). The potential of PGH and GHBP as maternal serum screening markers for Down syndrome (DS) was examined. Materials and methods Maternal serum concentrations of PGH and GHBP were determined by ELISA in 74 DS and 261 control pregnancies in gestational week 8(+0) to 13(+4). Log(10) MoM distributions of the markers were established. The performance of DS screening was estimated by Monte Carlo simulation. Results PGH log(10) MoM (SD) was decreased (p < 0.001) to -0.201 (0.373) and GHBP log(10) MoM to -0.116 (0.265) (p = 0.04), in DS pregnancies (it = 34) in week 8(+0) to 10(+0). In week 10(+1) to 13(+4), neither PGH (p = 0.16) nor GHBP (p = 0.13) was reduced in DS pregnancies. The detection rate (DR) for PGH in screening for DS in week 8(+0) to 10(+0) was 39% for a false positive rate (FPR) of 5%; increasing to 72% in combination with PAPP-A + hCG beta. PGH + GHBP in combination with PAPP-A + hCG beta + nuchal translucency (NT) (CUB test) had a DR of 91% compared with 80% for the CUB test. Conclusion PGH and GHBP are early first trimester maternal serum markers for DS [Correction made here after initial online publication]. Copyright (C) 2009 John Wiley & Sons, Ltd.