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Csaba Papp

Publications and source records attributed to Csaba Papp.

30 records · Page 2Linked to original sources
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

Chorionic villus sampling and amniocentesis: what are the risks in current practice?

PURPOSE OF REVIEW: Public demand for genetic counselling and prenatal diagnosis has increased during the past decade. As invasive diagnostic methods, such as chorionic villus sampling and amniocentesis, still have an important role to play in evaluating the fetus, one of the most important questions to address during genetic counselling is the procedure-related risk of these techniques. RECENT FINDINGS: The possible factors modifying the specific risk of the actual fetus are discussed, together with factors that have an impact on procedure-related fetal loss and other complications. Risk factors regarding twin pregnancies, first and second-trimester chorionic villus sampling, early and mid-trimester amniocentesis are discussed separately. New developments have recently occurred in the laboratory techniques used in prenatal diagnosis. Their impact on genetic counselling and the employment of invasive techniques are also addressed. SUMMARY: During genetic counselling, an individually tailored risk assessment needs to be established before any invasive procedure. This should take into account all the factors modifying the specific risk for aneuploidy or other disorders of the fetus, as well as the actual procedure-related risks.

Amniocentesis↗
PubMed2002

Rapid diagnosis of triploidy of maternal origin using fluorescent PCR and DNA fragment analysis in the third trimester of pregnancy.

OBJECTIVES: Triploidy is a common cause of spontaneous abortion in the very early stages of pregnancy. It is very rare for a prenatal diagnostic center to discover triploidy in the third trimester of pregnancy. A pregnant woman in the third trimester was referred to our genetic counselling clinic because of abnormal ultrasound findings. We planned to test for the most common chromosomal abnormalities. METHODS: We performed ultrasound examination, chorionic villus sampling, karyotyping and fluorescent-polymerase chain reaction (F-PCR) and fragment analysis. RESULTS: We diagnosed a 69,XXX karyotype fetus in the 31st week of gestation, based on a short tandem repeat (STR) pattern typical for triploidy, which was confirmed by karyotyping. The comparison of the fetal and parental STR patterns showed maternal origin of the extra haploid chromosome set. CONCLUSIONS: STR analysis of fluorescent-PCR and DNA fragment analysis is a rapid and reliable alternative to karyotyping for detection of certain aneuploidies. The method is also suitable for the determination of the origin of the extra chromosome set.

Abortion, Eugenic↗
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↗
PubMedDate not supplied

Genetic amniocentesis in multiple pregnancy.

OBJECTIVES: Second-trimester genetic amniocentesis is the most frequently used invasive prenatal diagnostic technique. Several reports have been published about the effect of genetic amniocentesis on fetal loss in multiple pregnancies over the past two decades. Here we analyze our experience with genetic amniocentesis in multiple pregnancies over the past 10 years. METHODS: Details of 184 multiple pregnancies were processed in all cases in whom genetic amniocentesis was performed in women who presented at our department since 1990. The outcomes of 175 cases (95.1%) out of 184 genetic amniocenteses were available to us. As a control group, we followed up the outcome of 300 twin pregnancies in which no genetic amniocenteses were performed. RESULTS: We found that the proportion of spontaneous losses in multiple pregnancies between the 18th and the 24th gestational weeks was 2.39%, whereas if genetic amniocentesis was performed the loss rate before the 24th week was 3.87%. The perinatal mortality rate was 10.03/1,000 in the group who underwent amniocentesis, while it was 10.52/1,000 in the group without amniocentesis. CONCLUSIONS: Our results suggest that the genetic amniocentesis performed in multiple pregnancies slightly increased (1.48%) the fetal loss rate until the 24th week. Beyond 5 weeks after the procedure, no consequent fetal loss should be expected. In our study the intervention did not have any undesired effect on perinatal mortality rates.

Abortion, Spontaneous↗
PubMedDate not supplied

Prenatal diagnosis, phenotypic and obstetric characteristics of holoprosencephaly.

The diagnosis of fetal malformations, especially those of the central nervous system, is strikingly important in the practice of genetic counseling. Early diagnosis is very significant, not only because of the prognosis, but also because of the emotional effects caused by the accompanying craniofacial malformations. The summary of the obstetrical and diagnostical characteristics should be useful in the management of holoprosencephaly. The analysis of the 50 cases we encountered between 1981 and 2000, including the anatomical, diagnostic and clinical aspects, as well as the associated craniofacial malformations, forms the essence of our publication. In one of the examined cases a familiar recurrence was verified.

Adult↗