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Artúr Beke

Publications and source records attributed to Artúr Beke.

At least 19 recordsLinked to original sources
PubMed2006

[The role of ultrasonography in second trimester screening for fetal chromosome aberrations].

UNLABELLED: The role of ultrasound examination in second trimester screening for fetal aneuploidies. OBJECTIVE: Authors sought to determine the frequency of ultrasound findings in major chromosomal defects. They also tried to evaluate possible patterns of ultrasound signs of fetal chromosomal defects. METHODS: Through the time period of 15 years (1999-2004) 22,150 fetal karyotypings were done, and 514 abnormal karyotypes (2.3%, 514/22,150) were diagnosed prenatally. Congenital anomalies of these fetuses, detected by second trimester sonography, were analyzed in this study. RESULTS: Of the 514 chromosome aberrations, 207 fetuses with trisomy 21 (40.3%), 70 fetuses with trisomy 18 (13.6%), 28 fetuses with trisomy 13 (5.4%), 69 fetuses with Turner syndrome (13.4%) and 12 fetuses with triploidy (2.3%) were detected. The incidences of major structural defects and minor anomalies were evaluated then ultrasound signs with the highest incidences were established in each of the major chromosomal defects. CONCLUSION: This study may help to select the "optimal components" of the genetic sonogram that would assist the counseling of women for the risk of a chromosomal abnormality. Other advantages of such approach could be the standardization of the contents of ultrasound examination among different health care providers and institutions, and a decrease in false-positive rates.

Adult↗
PubMed2006

Detection of Toxoplasma gondii from amniotic fluid, a comparison of four different molecular biological methods.

BACKGROUND: The infection caused by the parasite Toxoplasma gondii (T. gondii) is often asymptomatic or has mild symptoms. The infection can cause serious problems in pregnant women who acquire the infection during gestation and their fetuses are congenitally infected. METHODS: We tested 64 amniotic fluid samples for the presence of T. gondii by using fluorescent PCR and DNA fragment analysis. Later we compared four different molecular biological methods for the detection of the presence of T. gondii on same frozen DNA samples. These methods are the conventional PCR, fluorescent PCR with DNA fragment analysis, quantitative real-time PCR with SYBRGreen I and with fluorescence energy transfer hybridization probe detection. We determined the detection limit of these methods. RESULTS: The conventional PCR and quantitative real-time PCR with SYBRGreen I detection have the detection limit of 1000 parasites, followed by fluorescent PCR with the detection limit of 10-100 parasites. The real-time PCR using fluorescence energy transfer hybridization probes can detect one parasite. This is the most sensitive and the fastest method. We detected 5 T. gondii positive samples with all methods from the studied 64 amniotic fluids. CONCLUSIONS: All studied molecular biological methods are suitable for the detection of congenital toxoplasmosis. The quantitative real-time PCR based methods are more sensitive, simple and easy to perform these are opening the avenue to find out the effect of the number of parasites on fetal abnormalities.

Amniotic Fluid↗
PubMed2006

Trisomy 20 mosaicism and nonmosaic trisomy 20: a report of 2 cases.

BACKGROUND: Together with chromosome 19, chromosome 20 belongs to group F, the group of small metacentric chromosomes. Trisomy 20 mosaicism is one of the most frequent chromosomal mosaicisms, representing approximately 16% of prenatally diagnosed cases. In nonmosaic trisomy 20, the usual findings are severe and manifold. Only 3 cases in the literature involved fetuses surviving past the first trimester. CASES: In case 1, a 42-year-old woman presented in her sixth pregnancy; she had had 4 vaginal deliveries of term infants and a miscarriage. Both her familial and personal genetic histories were unremarkable. Genetic amniocentesis was performed in the 18th gestational week for advanced maternal age. Sample analysis revealed a normal, male karyotype in 27 mitoses, while 4 were trisomy 20 (46,XY [27]/47,XY, +20 [4]). In the 37th gestational week a live, immature, male infant weighing 1,730 g was delivered. Chromosomal investigation of the newborn's blood sample did not reveal trisomy 20 but a normal male karyotype. In case 2, a healthy 37-year-old nullipara underwent amniocentesis at the 18th week of pregnancy for advanced maternal age. Amniotic fluid cell karyotype revealed trisomy 20 (47,XX, +20). Ultrasonography performed simultaneously with genetic amniocentesis showed slightly shortened fetal long bones, detectable narrowing of the cranium in the region of the frontal bone, lateral ventricles of 10 mm in width bilaterally, echogenic bowel and polyhydramnios. Abortion was induced in the 23rd week of pregnancy, and a 490-g female fetus was delivered. CONCLUSION: Based on these 2 well-documented, prenatally diagnosed cases, as far as genetic counseling is concerned, nonmosaic trisomy 20 is much less challenging than its mosaic form since the prognosis is uniformly poor in the former.

Abnormalities, Multiple↗
PubMed2005

[Prenatal diagnosis of the atrioventricular septal defect and it's effect on the outcome of the pregnancies].

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.

Adolescent↗
PubMed2005

[Congenital heart malformations is twin pregnancies].

INTRODUCTION: In twin pregnancies the risk for congenital heart malformation is higher than in singular pregnancies. Because of the development of prenatal diagnostic methods, it is possible to recognise congenital malformations. In point of view of congenital cardiac malformations the twin pregnancies belong to high risk group. AIM: To found connection between congenital heart malformations and twin pregnancies. MATERIAL AND METHOD: Retrospective analysis of data of Fetal Cardiology database between 1. january 1966 and 30. november 2003. RESULTS: In singular pregnancies 455, and in twin pregnancies 31 severe congenital heart malformations were diagnosed prenatally. It means, that congenital heart malformations were diagnosed prenatally in 2% of singular pregnancies and in 4,6% of twin pregnancies. In monozygotic twin pregnancies in 36% of heart malformations were pulmonary stenosis and in 45% endocardial fibroelastosis. In dizygotic twin pregnancies Ebstein malformation was more common than it statistically expected. In dichorial and dizygotic twin pregnancies the cardiac malformations were similar to in singular pregnancies. CONCLUSIONS: In twin pregnancies the rate of congenital heart malformations is higher than in singular pregnancies, that's why the twin pregnancy is indication for fetal echocardiography. In monochorial twin pregnancies different types of congenital heart malformations are expected than in singular or dichorial twin pregnancies, the chorionicity seems more important than the zygosity.

Echocardiography↗
PubMed2005

Isolation of epsilon-haemoglobin-chain positive fetal cells with micromanipulation for prenatal diagnosis.

OBJECTIVES: The isolation and analysis of fetal cells in maternal blood during pregnancy is under investigation as a means of noninvasive prenatal diagnosis. The aim of our study was to detect fetal gender from maternal peripherial blood samples during pregnancy with the detection and analysis of epsilon-haemoglobin-chain positive fetal nucleated red blood cells (NRBCs) collected by a micromanipulator. Here we report our first results. DESIGN AND METHODS: We obtained maternal blood from 14 singleton pregnancies. After a double density gradient separation, magnetic activated cell sorting was performed by positive selection for nucleated red blood cells with anti-CD71. With the help of this enrichment step, followed by immunophenotyping with an anti-haemoglobin-epsilon monoclonal antibody, the isolation of the epsilon haemoglobin chain positive cells with micromanipulation could be done. We performed single cell fluorescent PCR analysis of these cells; we used primers for the amelogenin gene to detect fetal gender. We compared our findings with the results of amniocentesis. RESULTS: Fetal gender was successfully determined in 11 out of 14 cases; among them, in 2 cases with Klinefelter syndrome (47,XXY). CONCLUSION: The results of our study suggest that micromanipulation and QF-PCR analysis of anti-haemoglobin-epsilon fluorescent antibody stained fetal cells from maternal blood can be useful in prenatal diagnosis to detect fetal gender and promising to be improved to detect chromosomal abnormalities.

Antigens, CD↗
PubMed2005

Successful pregnancy in a Noonan syndrome patient after 3 unsuccessful pregnancies from severe fetal hydrops: a case report.

BACKGROUND: Noonan syndrome is a very rare disorder; its prevalence is 1/1,000-2,500 births. The special facial features, short stature, eventual cardiac anomalies and familiar history are the most important characteristics of the diagnosis. CASE: A Noonan syndrome patient delivered a healthy infant after a complicated delivery. The delivery followed 3 unsuccessful pregnancies. The previous pregnancies were terminated before the 24th gestational week because of general fetal hydrops as well as other malformations. CONCLUSION: In the prenatal care of a patient with Noonan syndrome the genetic and obstetric aspects are equally important. In establishing the diagnosis, ultrasonography is of utmost importance. As in our case, complications after cesarean section highlight the higher risk of delivery in women with Noonan syndrome.

Abnormalities, Multiple↗
PubMed2005

Trisomies and other chromosome abnormalities detected after positive sonographic findings.

OBJECTIVE: To evaluate the rate of trisomies and other chromosome abnormalities after positive ultrasound findings in thefirst and second trimester of pregnancy. STUDY DESIGN: The study investigated chromosome abnormalities detected in cases with prior abnormal ultrasoundfindings. During a 10-year period there were 1907 invasive interventions carried out with the purpose of chromosome analysis. The intervention was genetic amniocentesis in 1619 cases and chorionic villus sampling in 288. RESULTS: Karyotyping revealed 103 cases (5.4%) of chromosome abnormalities. Abnormalities with subcutaneous edema were examined: abnormal karyotype was found in 20% of cases with nonimmune hydrops, 48.1% of cases with cystic hygroma and 53.8% of cases with nonimmune hydrops and cystic hygroma together, 8.3% of cases with nuchal edema in the first trimester and 5.5% in the second trimester. The incidence of chromosome abnormalities in cases of 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 of chromosome abnormalities was 7.9% and 26.7%, respectively. Other anomalies of the heart and large blood vessels showed an abnormal karyotype incidence of 18.2%. In cases of unilateral pyelectasis unassociated with other anomalies, the incidence of chromosome abnormalities was 1%. In cases of bilateral pyelectasis or pyelectasis associated with other anomalies, the incidence was 3%. In terms of anomalies of the abdominal wall and abdomen, the incidence of association with chromosome abnormalities was 9.5% in cases of omphalocele, 11.8% in cases of duodenal atresia and 5.7% in cases of echogenic bowel. In cases of short femur and humerus the rate of abnormal karyotypes was 16%. CONCLUSION: Ultrasound plays an important role in prenatal diagnosis. In cases of positive ultrasound findings, karyotyping is reasonable.

Amniocentesis↗
PubMed2004

[First attempts of detecting fetal cells in the maternal circulation].

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.

Antigens, CD↗
PubMed2004

[Cytogenetic exploration of fetal ultrasound anomalies].

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.

Chromosome Aberrations↗
PubMed2004

[Genetic amniocentesis in twin pregnancy--experience of eleven years].

AIMS: Genetic amniocentesis is the most commonly used method for the diagnosis of genetic disorders of the fetus. PATIENT AND METHODS: The authors give an account of their experiences on genetic amniocentesis performed in almost 200 cases of twin pregnancies in the last eleven years. They examined the outcome of the pregnancies, the fetal loss, the distribution of the deliveries, the perinatal mortality data and the technical aspects of the procedures. The control group included twin pregnancies not undergoing genetic amniocentesis. RESULTS: The authors found that the spontaneous fetal loss between the 18th and 24th gestation weeks is 2.39%. After genetic amniocentesis this rate is 3.87%. According to their results this light increase in fetal loss is non significant. CONCLUSIONS: The results suggest that beyond the 5th week after genetic amniocentesis the fetal loss can not be concluded as a result of the procedure. Regarding the outcome of the pregnancies they suggest, that the procedure should be done around the 18th gestation weeks. In their experience the procedure did not affect the perinatal mortality data.

Amniocentesis↗
PubMed2004

[Chorionic villus sampling and amniocentesis: invasive procedures and their risks in current prenatal diagnostic practice].

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.

Amniocentesis↗
PubMed2004

Factors influencing parental decision making in prenatal diagnosis of sex chromosome aneuploidy.

OBJECTIVE: To evaluate factors influencing parental decisions toward continuing or terminating a pregnancy with prenatal diagnosis of sex chromosome aneuploidy. METHODS: We reviewed the records of patients with fetuses with sex chromosome aneuploidy between 1990 and 2001. A questionnaire survey of women who chose to terminate such pregnancies was designed to examine aspects of their decision-making process. RESULTS: Forty-nine of 89 pregnancies with sex chromosome aneuploidy were terminated (termination rate 0.55; 95% confidence interval 0.45-0.65). Pregnancies with abnormal ultrasound findings (14/16, 87%), with 45,X or 47,XXY karyotypes (26/36, 72%), and with nonmosaic karyotypes (30/48, 63%) were terminated significantly more often than pregnancies with normal ultrasound findings (35/73, 48%; P <.01), with 47,XXX or 47,XYY karyotypes (4/12, 33%; P <.05), and with mosaic karyotypes (5/25, 20%; P =.01). There was a trend (P =.136) toward a lower rate of termination from 67% to 36% across time, with a significant decrease from 67% to 7% in pregnancies with 47,XXX; 47,XYY; and mosaic karyotypes (P <.01), and no change in cases with 45,X and 47,XXY karyotypes (67% compared with 69%; P = 1.0). Abnormal sexual development and infertility were the greatest parental concerns related to termination. CONCLUSION: Fear of having a child with abnormal sexual development or infertility remains the major determinant of parental decision toward terminating pregnancy, resulting in consistently high termination rates across time in pregnancies with 45,X and 47,XXY karyotypes. In cases with 47,XXX; 47,XYY; and mosaic karyotypes, the declining termination rate across time is a consequence of recent studies reporting normal sexual development and fertility.

Abortion, Induced↗
PubMed2003

[Fetal sex determination with real time PCR of fetal DNA in maternal plasma].

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.

Adult↗
PubMedDate not supplied

Chorionic villus sampling: a 15-year experience.

The authors describe experiences gained over the period of 1984-1999 at two medical centers with chorionic villus sampling (CVS). Altogether 1,149 CVSs had been performed between the 10th and 32nd gestational weeks. Prior to 1993 the transcervical approach (TC-CVS), after 1994 the transabdominal method (TA-CVS) was used. Analysis of data collected within the framework of this study was based on the following factors: indications for sampling, complications and incidence of pregnancy loss. 91.6% of the CVSs were carried out for the purposes of cytogenetic examination of the fetus. Over the past few years an increasing number of procedures had been carried out for molecular-genetic tests (7.6% of the total number of cases). Though the primary indication for cytogenetic tests was the advanced age of the mother, a remarkable increase in the number of samplings had taken place for the purpose of examining "suspicious ultrasound findings", minor anomalies detected by ultrasound. In this group the proportion of pathological cases was significantly higher (14%) than in all the other samplings, carried out for other indications. This data in itself underlines the importance of ultrasound screening performed in the 18-20th weeks of gestation. Over the first half of the period being reviewed (1984-1993, TC-CVS), a fetal loss of 4.8% occurring within 3 weeks from the date of sampling, dropped to 1.7% in the period subsequent to year 1994 (TA-CVS). In cases of TA-CSV, both the complications and spontaneous abortions were fewer. In 74.1% of the cases studied, birth had taken place after the 37th week of gestation. Premature births (6.4%) and stillbirth rate (1.1%) did not exceed normal rates observed in the general population. On the basis of our results, it is safe to say that in prenatal diagnosis, TA-CVS is a real alternative method of mid-trimester amniocentesis and it is recommended for use at any stage of the pregnancy.

Adolescent↗
PubMedDate not supplied

Pre- and perinatal relations of hemophilia A and B.

OBJECTIVE: The authors conducted a retrospective study of obstetric and genetic data, obstetric problems, and pregnancy outcome by investigating 149 pregnancies of patients who received genetic counselling because of hemophilia A or B over a 20-year period. METHODS: In cases with a heterozygous mother, fetal sex was determined. In 23 of 35 cases with male fetuses, a DNA examination was performed. In cases with hemophilic male fetuses, the couple made a decision on whether or not to continue the pregnancy after thorough counselling regarding genetic risk. Hemophilia A occurred 135 pregnancies (98 pregnancies from 55 heterozygous mothers and 37 pregnancies from 20 hemophilic fathers). Hemophilia B occurred in 14 pregnancies (9 pregnancies from 3 heterozygous mothers and 5 pregnancies from 4 hemophilic fathers). RESULTS: In pregnant women who were carriers of hemophilia A, 32 of the fetuses were male, and DNA examinations were performed in 22 cases. In 16 cases abortions were induced (in 10 cases hemophilia was confirmed by DNA examination), and in 4 of 16 deliveries affected males were born (the disease was confirmed by DNA examination during pregnancy). Of 3 confirmed male fetuses of heterozygous women with hemophilia B, 1 healthy male was born. In 2 cases abortions were induced (in 1 case on the basis of DNA diagnosis). CONCLUSIONS: In cases of heterozygous mothers (hemophilia A and B together) the rate of spontaneous abortions was 13.1%. The rates of premature deliveries (8.2%) and cesarean sections (8.2%) were no higher than national average. The rate of bleeding complications during pregnancy was 18.7%, in 2.7% of cases transfusions were necessary. In case of hemophilic fathers (in heterozygous female fetuses the hemostasis may change from the fetal side) the rate of bleeding complications during pregnancy was 18.2%. In terms of deliveries, obstetrical bleeding complications occurred in 12.2%, atonia in 2%, curettage after delivery in 4.1%, and transfusion in 10.2% of the heterozygous mothers with hemophilia A and B combined. Neonatal complications were cerebral hemorrhage in 1 case and bleeding from the umbilical stump in another case (both newborns were hemophilic males). In connection with delivery, there was no sign of hematoma development on the skull of the newborns, nor were transfusions necessary. In cases of paternal disease the rate of curettage was 6.7% and there were no neonatal or other obstetrical complications.

Delivery, Obstetric↗
PubMedDate not supplied

Recurrent trisomy 21 and uniparental disomy 21 in a family.

OBJECTIVE: A 32-year-old pregnant woman was referred to our genetic counselling because of recurrent trisomy 21 in the family. Analysis of amniotic fluid cell culture revealed karyotype 47,XY+21 of the fetus. METHODS: Karyotyping and molecular analysis were undertaken in the fetal and parental samples to determine the origin of the extra chromosome 21. RESULTS: Both parents had a normal blood karyotype. Microsatellite marker analysis showed maternal origin of the fetal extra chromosome 21. As the mother showed homozygosity for all investigated markers on chromosome 21, we also tested her family. We detected the same homozygosity in some family members which was consistent with isodisomy of the chromosome 21 caused by uniparental disomy (UPD). CONCLUSIONS: Here we report on a family in which multiple aneuploid conceptions occurred with trisomy 21, and molecular analysis showed that the euploidy of the investigated healthy family members is due to UPD21. This observation stresses the importance of prenatal cytogenetic and molecular analysis in case of parental UPD.

Adult↗