Gyula Richárd Nagy

Comparison of prevalence of toxoplasma and cytomegalovirus infection in cases with fetal ultrasound markers in the second trimester of pregnancy

To evaluate the prevalence of toxoplasma and cytomegalovirus (CMV) infections in cases of ultrasound anomalies detected in the second trimester of pregnancy.

Circulating levels of the anti‐angiogenic thrombospondin 2 are elevated in pre‐eclampsia

An imbalance of maternal circulating pro‐ and anti‐angiogenic factors may play a role in the pathogenesis of pre‐eclampsia. Thrombospondin 2 (TSP‐2) is a protein expressed mainly by activated endothelial cells, which acts as a potent anti‐angiogenic agent. Our aim was to determine whether serum TSP‐2 levels are altered in pre‐eclampsia. We enrolled 35 pre‐eclamptic patients and 35 healthy pregnant women in the study. Thrombospondin 2 levels were determined by enzyme‐linked immunosorbent assay, while soluble fms‐like tyrosine kinase‐1 (sFlt‐1) and placental growth factor (PlGF) concentrations were determined by electrochemiluminescence immunoassay. In patients with PE, we demonstrated 1.7‐fold higher TSP‐2 [13.2 (9.4–18.1) vs. 7.9 (7.2–11.2) ng/ml, p<0.001], 3.8‐fold higher sFlt‐1 and 4.3‐fold lower PlGF levels compared with the control group. There were no associations between TSP‐2 and sFlt‐1 or PlGF concentrations. We suggest that circulating TSP‐2 levels may contribute to the pathogenesis of PE via its anti‐angiogenic properties, but in a distinct way from sFlt‐1 and PlGF.

Lower risk for Down syndrome associated with longer oral contraceptive use: A case-control study of women of advanced maternal age presenting for prenatal diagnosis

BACKGROUND Maternal trisomy 21 ovarian mosaicism might provide the major causative factor for fetal Down syndrome. The small proportion of trisomy 21 oocytes thought to be retarded in their maturation in comparison to normal disomic ones, and the maternal age effect can be based on an accumulation of trisomy 21 oocytes in the ovarian reserve. By lowering the number of unnecessary ovulations, a greater portion of disomic oocytes might be saved. STUDY DESIGN Between September 2009 and September 2011, we performed genetic amniocentesis for fetal chromosomal analysis in 5222 pregnancies. We detected 119 structural or numerical chromosomal abnormalities. We collected data from 37 cases who were in advanced maternal age and where fetal trisomy 21, 18 or 13 was confirmed. We had 92 control patients. Detailed information was taken from those factors that influence the number of ovulations in reproductive life. RESULTS From the factors checked, patients with a trisomic fetus had a shorter overall mean length of oral contraceptive pill use before the trisomic pregnancy (3.4 vs. 6.0 years, p<.0014), and the estimated number of mean ovulations was higher (274.6 vs. 224, p<.0003). CONCLUSION We found that a history of longer oral contraceptive pill use and fewer ovulatory cycles were associated with fewer common trisomies of the fetus. Additional research is needed to rule out potential confounding factors, but our results are consistent with the maternal ovarian mosaicism causal model.

Noninvazív magzati Rh-meghatározás real-time PCR-módszerrel

INTRODUCTION In the last ten years the detection of fetal origin cells and cell free fetal DNA in maternal circulation opened new horizons in non-invasive prenatal diagnosis. The diagnostic possibilities are based on the differences between the maternal and fetal origin DNA. One of the differences could be the Rh blood group and the genetical background. The Rh incompatibility is the most frequent blood group incompatibilities in the clinical practice, which can cause fetal anemia, hydrops and even fetal death. AIMS The aim of this study was to detect the fetal DNA in maternal circulation, to determine the Rh status of the fetus, and to compare the reliability of the method with the data found in other studies. METHODS Blood samples and amnionic fluid samples were collected from 30 pregnant women, with Rh negative status, between 11-22 week of gestation presented for genetic amniocentesis at the 1st. Department of Obstetrics and Gynecology, Semmelweis University. After DNA isolation real-time PCR was performed in order to detect the exon 7 of the RhD gene located on the first chromosome (1p36.11.). RESULTS In 24 cases the PCR reaction gave same result in case of the DNA isolated from plasma and amniotic fluid, but in six cases there was no PCR product of plasma samples and the product was detectable in amniotic fluid samples. The exon 7 was detectable in 25 cases, and there was no product in 5 cases. CONCLUSIONS The real-time PCR method seems to be an easy and reliable method to determine the fetal Rh blood group. The sensitivity and specificity of the method in this study is in concordance with international data. The use of more than one probe could increase the sensitivity of the method.

[Detection of Toxoplasma gondii in amniotic fluid using quantitative real-time PCR method].

INTRODUCTION The infection caused by parasite Toxoplasma gondii is often asymptomatic or a mild clinical disease. Congenital toxoplasmosis is the result of transplacental transmission of Toxoplasma gondii from an acute infected mother. Toxoplasmosis can cause several fetal symptoms. Early diagnosis of the infection can enhance the success of the medical treatment. Congenital toxoplasmosis can be detected by serological or PCR amplification methods. AIMS The authors decided to develop a quantitative real-time PCR technique for detection of T. gondii in amniotic fluid samples. METHODS DNA was isolated using silica adsorption method. Quantitative real-time PCR method was used to detect T. gondii infection in the samples. RESULTS From the studied 74 samples in 6 cases T. gondii was detected. CONCLUSION The introduced quantitative real-time PCR method is a fast and sensitive PCR based method and makes possible the quantification of the protozoa number in the sample.

Detection of ΔF508del using quantitative real-time PCR, comparison of the results obtained by fluorescent PCR

Objective: Cystic fibrosis (CF) is the most common autosomal recessive genetic disorder in the Caucasian population. The molecular diagnosis is difficult since there are about 1,000 mutations in the CF transmembrane regulator gene. The ΔF508del is the cause of the CF in 64% of the cases in Hungary. Our aim was to compare two polymerase chain reaction (PCR)-based method for the detection of ΔF508del. Methods: One hundred and sixteen DNA samples isolated from different tissues (84 blood samples, 18 chorionic villus samples and 14 amniotic fluid samples) were involved in the study. Fluorescent PCR with DNA fragment analysis and quantitative real-time PCR with melting curve analysis were performed on the DNA samples for the detection of ΔF508del. Results: Sixty-five healthy normal samples, 43 heterozygous samples, 6 ΔF508del homozygous samples and 2 ΔF508C homozygous samples were detected by using quantitative real-time PCR combined with melting curve analysis. The fluorescent PCR method did not detect the ΔF508C mutation and these two samples were diagnosed as normal healthy ones. Conclusions: The quantitative real-time PCR with melting curve analysis is a reliable and fast method for the detection of ΔF508del. The results are ready in 1 h following the DNA isolation. The applied primer-probe set with melting curve analysis gives additional information for the presence of other mutations in the ΔF508del region.

Erratum to: Effect of extended oral contraception use on the prevalence of fetal trisomy 21 in women aged at least 35 years (International Journal of Gynecology & Obstetrics, (2017), 138, 3, (261-266), 10.1002/ijgo.12238)

1Department of Obstetrics and Gynecology, Conjoint Szent István and Szent László Hospital, Budapest, Hungary 2Department of Obstetrics and Gynecology, Uzsoki Hospital, Budapest, Hungary 31st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary 4MTA TTK Lendület Cancer Biomarker Research Group, Budapest, Hungary 52nd Department of Pediatrics, Semmelweis University, Budapest, Hungary

Effect of extended oral contraception use on the prevalence of fetal trisomy 21 in women aged at least 35 years

To study factors influencing the number of ovulations in reproductive life as risk factors for common trisomies.

Paroxysmalis nocturnalis haemoglobinuriával szövődött várandósság ritka esete

Paroxysmal nocturnal hemoglobinuria is a rare hematological disease. It is associated with increased maternal and fetal complications to such an extent that pregnancy has been considered relatively contraindicated in woman with paroxysmal nocturnal haemoglobinuria. Recently, eculizumab, a monoclonal antibody, has been shown to decrease complications during pregnancies. The highest risk is thromboembolic complication and, therefore, anticoagulant is a standard therapy during pregnancy. In the presented case, a 29-year-old woman with a 5-year history of paroxysmal nocturnal haemoglobinuria had a pregnancy. It was her first pregnancy and was complicated by a sinus thrombosis at the 11th gestational week. After the introduction of eculizumab treatment, the remaining period of pregnancy and delivery were uncomplicated. There are only a few cases in the literature about pregnancy in woman with paroxysmal nocturnal hemoglobinuria who are treated with eculizumab. This monoclonal antibody seems to be safe and it likely prevents many of the complications otherwise observed.

Új generációs szekvenálás és használata az aneuploidiák nem invazív praenatalis vizsgálatában

Absztrakt Az uj generacios szekvenalasi eljarasok fejlődesevel a genszekvenalas uj korszaka koszontott be, amely a noninvaziv aneuploidiavizsgalatokat is forradalmasitotta. Osszefoglalo kozlemenyukben a szerzők a teljesebb kep erdekeben bizonyos első generacios szekvenalasi modszerek leirasa utan lepesről lepesre ismertetik az egyes uj generacios eljarasok elterő elmeleti es technikai hatteret. Kozlemenyuk masodik feleben a fejlett szekvenalasi eljarasokat igenylő, magzati szabad DNS segitsegevel tortenő noninvaziv praenatalis tesztelesre helyezik a hangsulyt: a vizsgalat elmeleti alapjainak es konkret technikai kivitelezesenek osszefoglalasa utan ismertetik a vizsgalat jelenlegi szerepet es hasznalhatosagat az aneuploidiadiagnosztikaban. Megallapitjak, hogy a noninvaziv praenatalis teszteles a jelenleg leghatekonyabb aneuploidiaszűrő modszer magas kockazatu terhesek eseten, hatekonysaga pedig alacsony kockazatu terhessegek eseten is tanulmanyokkal igazolhato. Orv. Hetil., 2015, 156(26), 1041–1048.