Noninvasive prenatal diagnosis experience in the Cukurova Region of Southern Turkey: detecting paternal mutations of sickle cell anemia and beta-thalassemia in cell-free fetal DNA using high-resolution melting analysis

WOS: 000326106700008PubMed ID: 23836351ObjectiveThis study used a high-resolution melting (HRM) technique to detect paternal mutations for the noninvasive prenatal diagnosis (NIPD) of -thalassemia and sickle cell anemia (HbS). We also determined the levels of cell-free fetal DNA and total cell-free DNA. MethodsWe used the HRM technique for fetal genotyping of paternal mutations in maternal plasma from 32 pregnancies at risk of -thalassemia and 57 pregnancies at risk of HbS. The DNA levels in maternal plasma were measured using real-time quantitative PCR. Multiples of the median (MoM) values were calculated in women at risk for -thalassemia or HbS. ResultsTwenty-two paternal mutations were detected in 89 pregnant women. Although we were successfully able to detect the paternal -thalassemia mutations, the mutant HbS fetuses could not be distinguished from maternal background in the early weeks of pregnancy. The detection of DYS14 in male fetuses was 100%. The MoM values of women at high risk of having HbS-affected fetuses were higher than those for the other groups. ConclusionHigh-resolution melting is a useful method for NIPD of -thalassemias by detecting paternal mutations in the maternal plasma. Cell-free fetal DNA quantification and MoM values were not informative for HbS or -thalassemias in early pregnancy. (c) 2013 John Wiley & Sons, Ltd.Cukurova University Academic Research Projects UnitCukurova UniversityThis study was supported by the Cukurova University Academic Research Projects Unit

An Analysis of C-Reactive Protein, Procalcitonin, and D-Dimer in Pre-Eclamptic Patients

PubMedID: 22783989Problem: The aim of this study was to evaluate serum procalcitonin (PCT), C-reactive protein (CRP), and plasma D-Dimer levels in mild and severe pre-eclampsia. Method of study: Serum PCT, CRP, and D-Dimer levels were analyzed in 64 cases with pre-eclampsia as the study group and 33 healthy pregnant women in the third trimester as the control group. Pre-eclamptic group consisted of mild (n = 31) and severe pre-eclamptic subgroup (n = 33). Laboratory results were compared between the groups and diagnostic usefulness of these parameters were evaluated. Results: PCT, CRP, and D-Dimer levels were significantly higher in study group than the control group (P = 0.001). PCT, CRP, and D-Dimer were significantly higher in the patients with severe pre-eclampsia than mild pre-eclampsia. There were significant positive correlations between these markers and mean arterial pressure (MAP). Logistic regression analysis using the control and pre-eclampsia group showed that higher PCT (OR, 15.68; 95%-CI, 3.15-78.10), CRP (OR, 14.29; 95%-CI, 3.08-66.34), and D-Dimer levels (OR, 4.97; 95%-CI, 1.22-20.29) were found to be risk factors significantly associated with pre-eclampsia. Conclusions: This study results confirm that evidence of a possible exaggerated systemic inflammatory response in pre-eclampsia especially in severe pre-eclampsia. © 2012 John Wiley & Sons A/S