János Rigó

Background: Several studies have shown overexpression of leptin in microarray experiments in pre-eclampsia (PE) and in hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome. We decided to study four leptin receptor (LEPR) SNP polymorphisms in HELLP syndrome patients by using quantitative real-time PCR and melting curve analysis. Methods: DNA was isolated from blood samples from 83 normotensive pregnant women and 75 HELLP syndrome patients. Four SNPs, LEPR c.326A>G (K109), LEPR c.668A>G (Q223R), LEPR c.1968G>C (K656N) and LEPR c.3024A>G (S1008) were determined by quantitative real-time PCR and melting curve analysis. Investigators were blinded to clinical outcomes. Results: LEPR c.326A>G, LEPR c.668A>G, LEPR c.1968G>C and LEPR c.3024A>G allele, genotype and haplotype polymorphisms were not different in HELLP syndrome patients and normotensive healthy pregnants. There were strong linkage disequilibrium (LD) between loci c.326A>G and c.6687A>G (D' = 0.974), and c.668A>G and c.1968G>C (D' = 0.934), and c.326A>G and c.1968G>C (D' = 0.885), and c.1968G>C and c.3024A>G (D' = 1.0). However, linkages of c.3024A>G with c.668A>G (D' = 0.111) and c.326A>G (D' = 0.398) were weak. The Hardy-Weinberg equilibrium was observed for all polymorphisms. However the LEPR c.326A>G AG genotype was twice more frequent and the (AG AG GG AG) haplotype was three times more frequent in HELLP syndrome patients. The introduced quantitative real-time PCR combined with melting curve analysis is a fast and reliable method for the determination of LEPR SNPs. Conclusion: Although certain LEPR haplotypes are more frequent in HELLP syndrome, we conclude that there is no compelling evidence that the four studied LEPR SNP polymorphisms associated with the development of HELLP syndrome.

The aim of our study was to examine whether increased circulating total cell-free DNA levels are related to the clinical characteristics and standard laboratory parameters of preeclamptic patients, to markers of inflammation, endothelial activation or injury, oxidative stress and to cell-free fetal DNA levels.

Congenital absence of the ductus venosus is a rare anomaly. The authors have found 57 cases in the literature. Their case was associated with a complex congenital heart disease, what occurs only in 10% of absent ductus venosus cases. In cases, where the umbilical vein connects directly to the right atrium, the volume overloading causes dilatation of the right atrium and ventricle, development of polyhydramnios and fetal hydrops. The diagnosed an umbilical vein directly connected to the right atrium, extreme systemic congestion, but no hydrops. In some fetuses this condition did not result hydrops, because there is compensation by the rich compliance of intrahepatic vascular beds. This case is an illustration that mild sonographic signs such a transient bradycardia in the early second trimester could be a sign of a heart malformation and can draw attention of the sonographer to other associated severe congenital heart disease.

Baroreflex sensitivity, distensibility coefficient, and intima-media thickness (IMT) of the common carotid artery were determined in a preeclamptic patient during 1st and 3rd trimesters as well as after childbirth. From the beginning of her pregnancy, baroreflex sensitivity and distensibility coefficient of the carotid artery exhibited a parallel decline, whereas the IMT increased as compared with normotensive pregnancies. The values of all parameters examined returned to their initial levels after 14 weeks of delivery. These results suggest that augmented IMT and carotid stiffness coupled to baroreceptor dysfunction may have contributed to the perturbation of blood pressure control in our preeclamptic patient.

Non-invasive methods using maternal plasma and serum for molecular genetic diagnosis become an important field of interest in prenatal genetic diagnosis. Free fetal DNA in maternal plasma and serum has been shown to be useful for fetal gender determination, and seems to offer a new possibility to perform non-invasive prenatal genetic diagnosis. A possible application is fetal sex determination for couples at risk of X-linked diseases. The aim of this study was to control the reliability and reproducibility of the real-time PCR amplification of the SRY region. Maternal serum before amniocentesis, and amnionic fluid samples were obtained from 56 pregnant women during the 11th to 22nd weeks of gestation. Real-time PCR analysis of the SRY region was performed in order to determine the fetal sex. Routine karyotyping of cultured amnionic cells was also performed on the samples. Six cases were excluded. In 26 of 50 pregnancies were found male fetuses by cytogenetic analysis. Real time PCR of maternal plasma has been positive for the SRY region in 27 cases. In 47 cases the cytogenetic gender and the real-time PCR result was correlating. In one case of 46,XY karyotype the PCR reaction for SRY region was negative, in two cases of SRY positivity the karyotype was 46,XX. In this study are presented the results of fetal sex determination in maternal plasma using real time PCR method. The real time PCR detection of fetal DNA in maternal plasma seems to be an easy non-invasive method to determine the fetal sex at this gestational age. Our experience is promising in terms of the specificity and sensitivity of the method.

Objective: Preeclampsia is a pregnancy-related disorder constituting one of the primary causes of worldwide maternal and fetal mortality, but despite intensive research its pathogenesis remains unclear. Lipids have been implicated in the development of preeclampsia, although this possible association remains controversial and not yet fully investigated. This study set out to examine the potential association between lipoprotein(a) and the development of severe preeclampsia. The focus of this study was to investigate the potential utility of apolipoprotein(a) isoforms as possible diagnostic markers for identifying women at risk for developing preeclampsia. Methods: Study participants included a control group of nonpregnant female volunteers (n = 59), a group of healthy pregnant (normotensive) female volunteers (n = 51), and a group of severe preeclamptic female volunteers (n = 59). Serum lipoprotein(a) concentrations were measured using double-antibody ELISA methods and were found to be 17.0 ± 23.6 mg/dl among nonpregnant controls (n = 51), 15.9 ± 15.8 mg/dl among healthy pregnant normotensives (n = 51), and 16.2 ± 16.7 mg/dl in the preeclamptic group (n = 59). In addition, apolipoprotein (a) isoforms were identified using high-resolution SDS-agarose electrophoresis followed by immunoblotting. Results: We detected no significant differences between the groups studied in the distribution of isoforms (Chi-square = 1.21, df = 4, P = 0.89); however, in a 1-week interval we detected a 42.2% rise in Lp(a) levels as well as a 67.1% rise in C-reactive protein concentrations among 10 volunteers in the preeclamptic group (median = 9.6; P < 0.05). Conclusions: Although the exact mechanism of pathogenesis continues to elude investigators, our results suggest that lipoprotein(a) may act as an acute-phase reactant during preeclampsia. Although our results are preliminary, they are consistent with growing evidence implicating lipids as among those factors involved in the etiology of preeclampsia. Changes in apoliprotein(a) may be among those important biochemical markers that are found to be useful in the early identification of high-risk women and warrant further study.