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Background: Quantification of cell-free fetal DNA by methylation-based DNA discrimination has been used in non-invasive prenatal testing of fetal chromosomal aneuploidy. The maspin (Serpin peptidase inhibitor, clade B (ovalbumin), member 5; SERPINB5) gene, located on chromosome 18q21.33, is hypomethylated in the placenta and completely methylated in maternal blood cells. The objective of this study was to evaluate the accuracy of non-invasive detection of fetal trisomy 18 using the unmethylated-maspin (U-maspin) gene as a cell-free fetal DNA marker and the methylated-maspin (M-maspin) gene as a cell-free total DNA marker in the first trimester of pregnancy. Methodology/Principal Findings: A nested case-control study was conducted using maternal plasma collected from 66 pregnant women, 11 carrying fetuses with trisomy 18 and 55 carrying normal fetuses. Median U-maspin concentrations were significantly elevated in women with trisomy 18 fetuses compared with controls (27.2 vs. 6.7 copies/mL; P<0.001). Median M-maspin concentrations were also significantly higher in women with trisomy 18 fetuses than in controls (96.9 vs. 19.5 copies/mL, P<0.001). The specificities of U-maspin and M-maspin concentrations for non-invasive fetal trisomy 18 detection were 96.4% and 74.5%, respectively, with a sensitivity of 90.9%. Conclusions: Our results suggest that U-maspin and M-maspin concentrations may be useful as potential biomarkers for non-invasive detection of fetal trisomy 18 in the first trimester of pregnancy, irrespective of the sex and genetic variations of the fetus. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to investigate the association between anti-angiogenic factor soluble c-Met (sMet) concentrations in maternal plasma and the risk of preeclampsia. Methods: The pregnant women included in this study (1) had subsequent preeclampsia ( n = 52) and were compared to normal controls ( n = 104) at the time of amniocentesis (15-20 weeks); and (2) had preeclampsia ( n = 63) and were compared to normal controls ( n = 112) at the time of diagnosis of preeclampsia (29-40 weeks). sMet concentrations were measured by ELISA. Non-parametric statistics were used for analysis. Results: Maternal plasma sMet concentrations were significantly higher in both women with subsequent preeclampsia (median: 1372.7 ng/ml versus 1100.5 ng/ml; p = 0.036) and women with preeclampsia (median: 1651.9 ng/ml versus 1364.7 ng/ml; p < 0.001) than in the controls. After adjusting for potential confounding factors, the risks of developing preeclampsia were as follows: adjusted odds ratio 2.5 (95% confidence interval, 1.2-5.2; p = 0.016) for second trimester sMet concentration with a cut-off value of 1223.5 ng/ml and 4.4 (95% confidence interval, 2.2-9.1; p < 0.001) for third trimester sMet concentration with a cut-off value of 1460.3 ng/ml. Conclusion: Elevated maternal plasma sMet concentrations were independently associated with the increased risk of preeclampsia. [ABSTRACT FROM AUTHOR]

Abstract: Background: Detection of cell-free fetal DNA (cffDNA) in maternal plasma has given rise to the possibility of new non-invasive approaches for early prenatal diagnoses. We evaluated the feasibility and accuracy of non-invasive fetal gender determination using quantitative fluorescent-polymerase chain reaction (QF-PCR) analysis of circulating cffDNA in the first-trimester maternal plasma. Methods: Plasma samples were prospectively collected from 202 singleton pregnancies at 4 to 13weeks of gestation. Fetal gender was determined by QF-PCR with the sex-determining region Y (SRY) and amelogenin X/Y (AMELX/Y) genes. The result was confirmed by fetal karyotyping or phenotype at birth. Results: Of the 202 pregnancies, 162 had pregnancy outcomes available and could be included in our evaluation. The accuracies of AMELX/Y, SRY, and combined AMELX/Y + SRY analysis for fetal gender determination were 83.3%, 82.1%, and 97.5%, respectively, compared with those of the invasive approach and the fetal gender outcome at birth (82 males and 80 females). Combined AMELX/Y + SRY analysis had the highest sensitivity (98.8%) for fetal gender determination with a specificity of 96.3%. Moreover, fetal gender detection by the combined AMELX/Y + SRY analysis at 11 to 13weeks of gestation was 100% correct. Conclusion: Fetal gender determination could be accurately determined from maternal cffDNA in the first-trimester using QF-PCR analysis of combined AMELX/Y + SRY. [Copyright &y& Elsevier]