[Prenatal diagnosis of the atrioventricular septal defect and it's effect on the outcome of the pregnancies]. / Az atrioventricularis septumdefectus praenatalis diagnózisa es annak hatása a magzat eletkilátásaira.

AIM: The authors reviewed cases of prenatally diagnosed atrioventricular septal defect to investigate the effect of associated intra and extracardiac malformations, related chromosomal anomalies and time of diagnosis on the outcome of these pregnancies. MATERIAL AND METHOD: Retrospective analysis of the data of prenatally diagnosed cases of atrioventricular septal defects detected between 1. January 1996 and 31. August 2003. For statistical analysis Fischer exact test was used. RESULT: During this period 83 atrioventricular septal defects were diagnosed prenatally. The mean age of the pregnant women was 30.9 year (15-43 year). The mean gestational age at the time of diagnosis was 25.2 weeks (13-38 weeks). The prenatal diagnosis was confirmed by fetopathologic, pathologic examination or postnatal echocardiography. There were no false positive or negative diagnosis. Prenatal chromosomal analysis was performed in 39 pregnancies, with a result of 13 normal caryotypes, 19 cases of trisomy 21, 6 cases of trisomy 18 and 1 case of trisomy 22. In 42 cases parents requested termination of the pregnancy. There were 6 intrauterine deaths, 16 neonatal deaths, 19 patients are alive at the time of this study. There were 9 patients, in the group of the survivors, where chromosomal abnormalities were detected prenatally, but the gestational age at the time of the diagnosis was more than 24 weeks. Atrioventricular septal defect was an isolated heart abnormality in each case of trisomy 21. Among the cases of trisomy 18, the atrioventricular septal defect of 2 patients was isolated heart malformation, in 4 cases other intracardiac malformations and in 1 case diaphragmatic hernia was detected as well. CONCLUSION: Regarding cardiac surgery the prognosis of isolated atrioventricular septal defect is good nowadays. The most important prognostic factors were associated intracardiac and extracardiac malformations and chromosomal anomalies. If the atrioventricular septal defect is an isolated heart malformation, the risk of associated chromosomal anomalies are much higher than in cases of complex heart malformations. The early prenatal diagnosis has great importance.

[Cytogenetic exploration of fetal ultrasound anomalies]. / Ultrahangvizsgálattal észlelt magzati anomáliák citogenetikai feltárása.

AIMS: To evaluate the rate of trisomies and other chromosome abnormalities after positive ultrasound findings in first and second trimester. METHODS: In this study authors investigate the chromosome abnormalities detected in cases with prior abnormal ultrasound findings. During a ten-year period there were 1907 invasive interventions carried out with the purpose of chromosome analysis. The invasive intervention was genetic amniocentesis in 1619 cases and chorion villus sampling in 288 cases. RESULTS: Karyotyping revealed 103 cases (5.4%) with chromosome abnormalities. Abnormalities with subcutaneous oedema were examined: abnormal karyotype was found in 20% of cases with non-immune hydrops, 48.1% of cases with cystic hygroma, and 53.8% of cases with non-immune hydrops and cystic hygroma altogether, 8.3% of cases with nuchal oedema in the 1st trimester, and 5.5% in the 2nd trimester. The incidence rate of chromosome abnormalities in cases with cerebral anomalies was 6.3% of cases with ventricular dilatation, 3.6% of cases with choroid plexus cysts, and 15.9% of cases with other cranial anomalies. Regarding abnormalities of the heart; isolated echogenic intracardiac focus and ventricular septal defects were not associated with chromosome abnormality, but, in conjunction with other positive ultrasound findings the incidence rate of chromosome abnormalities were 7.9% and 26.7%, respectively. Other anomalies of the heart and large blood vessels showed an abnormal karyotype incidence rate of 18.2%. In cases of unilateral pyelectasis unassociated with other anomalies, the incidence rate of the chromosome abnormalities was 1%. In cases of bilateral pyelectasis, or pyelectasis associated with other anomalies, the incidence rate was 3%. In terms of anomalies of the abdominal wall and the abdomen; the incidence rate of association with chromosome abnormalities was 9.5% in cases with omphalocele, 11.8% in cases with duodenal atresia, and 5.7% in cases with echogenic bowel. In cases with short femur and humerus the rate of abnormal karyotype was 16%. CONCLUSIONS: Ultrasound plays important role in prenatal screening and diagnostics. In cases with positive ultrasound findings, the performance of karyotyping is reasonable.

[Chorionic villus sampling and amniocentesis: invasive procedures and their risks in current prenatal diagnostic practice]. / Chorionboholy-mintavétel és amniocentesis: az invazív beavatkozások és kockázatuk napjaink prenatalis diagnosztikai gyakorlatában.

AIM: Since the two invasive diagnostic procedure, chorionic villus sampling and amniocentesis play important role in prenatal diagnosis, evaluation of their maternal and fetal risks is one of the most important part of genetic counselling. NEW DEVELOPMENTS: There are numerous factors that influence the specific risk of fetal aberrations or chromosomal abnormalities of the actual fetus. Risk factors and different conditions, modifying the procedure-related risk are discussed in the paper together with new chapters of prenatal diagnosis. CONCLUSION: The authors underline that individually tailored risk-assessment needs to be established during pre-procedure genetic counselling. This should take into account all the factors having impact on the specific risk in the actual pregnancy. Psychologic factors and recent scientific developments should also be discussed in order to give most information to the parents before they decide about taking any invasive procedure.

[First attempts of detecting fetal cells in the maternal circulation]. / Elso lépéseink a magzati sejtek anyai keringésbol történo kimutatásában.

INTRODUCTION: In prenatal diagnosis there is great interest for noninvasive diagnostic methods. Authors report their first results in detecting fetal cells in the maternal circulation during pregnancy. OBJECTIVE: The aim of the study was to detect fetal gender from maternal peripheral blood samples during pregnancy. METHOD: Authors have analysed fetal nucleated red blood cells. In 12 cases after a double density Percoll gradient separation they labelled the surface antigens of the cells with anti-glycophorin-A and anti-CD45 fluorescent antibodies, did an intracellular staining of the epsilon haemoglobin chain, and analysed the cells with flow cytometry. The CD45 negative/glycophorin-A positive/epsilon-haemoglobin chain positive cells were considered as fetal cells. Having the results, in another 13 cases magnetic activated cell sorting with CD71 antibody were used as an enrichment step. Authors made an intracellular staining of the epsilon haemoglobin chain, the positive cells were isolated by micromanipulation, and analysed by single cell fluorescent polymerase chain reaction. Primers for the amelogenin gene were used to detect fetal gender. RESULTS: Only the Percoll enrichment step itself is not enough for using the samples for diagnostic molecular-biologic examinations, a following enrichment step is needed. For this the authors used magnetic activated cell sorting with CD71 antibody. With the help of this enrichment step, after the intracellular staining of the epsilon haemoglobin chain the direct micromanipulator isolation of the epsilon haemoglobin chain positive cells could be done. After analysing single cells by fluorescent polymerase chain reaction, in 8 out of the 11 comparable cases the results were similar to those, what was found during the genetic amniocentesis. In 2 cases from this 8, genetic amniocentesis proved Klinefelter syndrome, which they could also confirm with the examination of fetal cells in the maternal circulation. CONCLUSION: The results of the study suggest that the method described above can be useful in prenatal genetic diagnosis, and improving it could be useful to detect other genetic abnormalities (chromosomal abnormalities, single gene disorders) as well.

[Fetal sex determination with real time PCR of fetal DNA in maternal plasma]. / Szabad magzati DNS kimutatása a magzati Y-kromoszóma igazolásával anyai vérplazmából.

INTRODUCTION: 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. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.