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Introduction: Our aim was to identify novel biomarker candidates for the near-term prediction of preeclampsia in a homogenous collective. In this study, we screened at the genome-wide level for gene expression in placental villous tissue from patients with severe preeclampsia in comparison to normal healthy pregnancies., Material and Methods: Total RNA was extracted from placental villous tissue from 9 preeclamptic patients and 7 normotensive controls after scheduled cesarean sections. After sample pooling, gene expression analysis was performed using six Affymetrix Human Gene 1.0 ST arrays, followed by quantitative RT-PCR and validation of selected markers in the serum of patients at the protein level., Results: In total, 896 significantly differentially expressed genes were identified (p ≤ 0.05). After restricting these to molecules present in the circulation, 9 upregulated and 5 downregulated genes were selected. Four of them (β-hCG, HTRA4, LHB1, all upregulated; and NOX4, downregulated) were validated by quantitative real-time RT-PCR. Finally, the maternal plasma protein levels of 2 of these genes (LHB and β-hCG) were confirmed to be significantly different between preeclampsia cases and controls., Discussion: We identified 14 potential new biomarker candidates for preeclampsia and validated 4 of them by quantitative RT-PCR and 2 of them with subsequent serum protein analyses. Further studies will assess the optimal marker combination for the imminent prediction of impending preeclampsia., (Copyright © 2012 S. Karger AG, Basel.)

Objectives: The selective enrichment of cell-free fetal DNA in maternal plasma by size fractionation leads to the improved detection of paternally inherited fetal point mutations when using conventional, real-time PCR, or as has more recently been shown by MALDI-TOF mass spectrometry. We have now examined the use of size fractionation in conjunction with mass spectrometry for the detection of a paternally inherited codon 39 mutation of the beta-globin gene., Methods: Maternal plasma was obtained from an early second trimester pregnancy at risk for beta-thalassemia, where the father carried the codon 39 mutation and the mother was a carrier for the IVSI-110 mutation of the beta-globin gene. Cell-free DNA was analyzed by mutation-specific PCR and MALDI-TOF mass spectrometry for the presence of the codon 39 mutation. A comparison was made between total cell-free DNA and that which had been enriched for a size of 100-300 bp., Results: The paternally inherited codon 39 mutant allele was detectable in both cell-free DNA preparations, but the signal was much more pronounced and precise in the size-fractionated sample., Conclusions: Size fractionation of cell-free DNA may lead to the improved non-invasive detection of fetal point mutations for beta-thalassemia by MALDI-TOF mass spectrometry., (Copyright (c) 2009 S. Karger AG, Basel.)

The availability of noninvasive prenatal diagnosis for the fetal RhD status (NIPD RhD) is an obvious benefit for alloimmunized pregnant women. This review gives information about the performance characteristics of current diagnostic technologies and recent promising proof-of-principle studies. Notably, during the past 3 years almost twice as much samples have been investigated with NIPD RhD compared with the studies from 1998 to 2005. Thus we have now a lot more information compared with the knowledge before 2006. There is no doubt that funding of the SAFE Network of Excellence (2004-2009) from the European Commission within the framework 6 program has massively increased the worldwide experience in NIPD RhD. In 2009 European funding has been stopped. Because of this large investment from public funding sources, it is now the duty of policy makers (scientific boards, patient groups, physician organizations, and health assurances) to discuss if targeted antenatal Rh prophylaxis should be introduced in German-speaking countries or which additional data are required to make a decision and how these additional studies should be funded.