Biomedical subjects

Z Papp

Publications and source records attributed to Z Papp.

At least 37 records · Page 2Linked to original sources

PubMed1991

Familial occurrence of bilateral renal agenesis.

The 58 cases of bilateral renal agenesis (Potter syndrome) registered in the Genetic Counselling unit of our institute in the last 12 years are reviewed. The only familial recurrent case which has been prenatally diagnosed is described in detail. A urinary bladder anomaly like that of the subsequent third child has not been previously reported. The authors analyze the possible inheritance patterns. They suggest the malformation is a genetically heterogeneous entity. They emphasize that nowadays the birth of a newborn with bilateral renal agenesis can be prevented in all cases.

Congenital Abnormalities↗

PubMed1991

Prenatal diagnosis of cystic fibrosis by microvillar membrane enzyme analysis in amniotic fluid.

Prenatal diagnosis was performed in 92 pregnancies high-risk for cystic fibrosis during six years. Amniotic fluid samples obtained by amniocentesis were examined with regard to their microvillar membrane enzyme activity. Though trehalase, alkaline phosphatase isoenzymes and L-gamma-glutamyltransferase in the amniotic fluid are not specific markers of cystic fibrosis, their activity is significantly lower than in normal pregnancies. By measuring the three enzymes simultaneously, sensitivity, specificity and reliability of the method were found to be over 92%. It is concluded that mid-trimester amniotic fluid diagnosis is indispensable for some heterozygotic couples for cystic fibrosis even in the possession of DNA (desoxyrobonucleic acid) methods.

Amniotic Fluid↗

PubMed1990

[Prenatal diagnosis of cystic fibrosis based on DNA analysis].

25 families at risk of having a child with cystic fibrosis have been counselled about prenatal diagnosis by the use of linked DNA probes (xV-2c, pCS.7, Met D, Met H, pJ3.11 and KM 19). In 20 families one or more informative probes, in 3 cases only partly informative probes were found, and in 2 families there was no informative probe at all. In 9 cases prenatal diagnosis have been performed, 6 children have been born and confirmed to be free from cystic fibrosis and 3 terminations were carried out because of prenatal prediction of cystic fibrosis.

Abortion, Induced↗

PubMed1990

[Alpha fetoprotein concentration in the amniotic fluid in normal pregnancy and in pregnancy complicated by fetal anomaly].

The authors determined alpha-fetoprotein (AFP) concentration of amniotic fluid samples taken from 351 pregnancies in the 15-23. gestational weeks with the outcome of healthy infants with the use of radioimmunoassay. These values were compared to those of 255 pathological pregnancies, and the sensitivity and specificity of this diagnostic method based on amniotic fluid AFP assay were determined. It has been concluded that if the borderline value between normal and pathological cases is three times greater than median, the specificity of the method is 100%, its sensitivity is 98.5% in anencephaly (exencephaly), 75.0% in ADAM sequence, 70.4% in spina bifida and 55.5 in omphalocele (gastroschisis). Thus amniocentesis is advisable in cases where the risk of the above malformations is above the average and also when the possibility of the malformation cannot be excluded by non-invasive methods.

Amniocentesis↗

PubMed1990

[Prenatal diagnosis of cystic fibrosis by analysis of microvillar enzymes of the amniotic fluid].

Prenatal diagnosis was performed in 92 pregnancies high-risk for cystic fibrosis during six years. Amniotic fluid samples obtained by amniocentesis were examined with regard to their microvillar membrane enzyme activity. However, trehalase, alkaline phosphatase isoenzymes and L-gamma-glutamyl-transferase in the amniotic fluid are not specific markers of the cystic fibrosis, their activity is significantly lower than in normal pregnancies. By measuring the three enzymes simultaneously, sensitivity, specificity and reliability of the method were found to be over 92%. It is concluded that the mid-trimester amniotic fluid diagnosis is useful for some heterozygotic couples for cystic fibrosis even in the possession of the DNA methods.

Amniocentesis↗

PubMed1990

[Possibilities of prenatal diagnosis in hemophilia A based on DNA analysis].

Haemophilia-A is the most common bleeding disorder in man, resulting from a deficiency of the coagulant protein, factor VIII. The factor VIII gene is located at Xq28 and the disease is inherited as an X-linked recessive disorder. There is a possibility using DNA probes closely linked to the gene factor VIII to determine the genotype. The availability of factor VIII DNA probes has led to the detection of carrier females and first trimester prenatal diagnosis of haemophilia-A. The authors give a short account on their experiences with four DNA probes. Their studies were carried out in nine families who have affected individuals and plan another pregnancies in the near future. DNA analysis can allow first trimester prenatal diagnosis from chorionic villi taken at 8-10th weeks of gestation. In the case of a male fetus it is possible to determine whether the mutant gene is inherited or not. Till now seven prenatal diagnoses have been performed based on the chorionic DNA.

Chorionic Villi Sampling↗

PubMed1990

[Prenatal diagnosis of Hunter's disease].

The authors give a short report about the first-trimester prenatal detection of Hunter's disease (MPS II) inherited as X-linked disorder. There is written about a family having one affected child with Hunter's syndrome. Chorionic villus sample was taken at 10th weeks of gestation in the new pregnancy of the mother. The sex of the fetus was a male determined by DNA analysis. The activity of sulphoiduronate sulphatase was very low. The enzyme activity was also extremely low in the cultured cells from amniotic fluid taken at 16th weeks of gestation. On the basis of these results the pregnancy was terminated at parents's request. The diagnosis of Hunter's disease was confirmed by measuring the enzyme activity of the cultured fibroblasts from the male fetus.

Female↗

PubMed1990

[A computerized follow up system of obstetric and genetic care].

The authors have implemented and introduced a new filing system representing the complexity of obstetric, genetic and neonatal care for the three counties of the Eastern part of Hungary. Data about the pre-, peri- and postnatal management are supplied by the genetic/teratologic, obstetric, neonatal and pathological units and processed at the Department of Obstetrics and Gynaecology, University Medical School of Debrecen with an IBM compatible AT computer. This computerised registry is based on the personal identification number, so it is easy to handle for storing data about the course and outcome of a large number of pregnancies as well as the detection and follow-up of fetal malformations and genetic diseases. The computer register is suitable for easy and systematic storage of the more than 20 thousand pregnancies screened by both maternal serum AFP and ultrasound including nearly 500 prenatal diagnosis cases per year. When devising the system, the classic parameters of the "revised Tauffer statistics" have been taken into consideration, but the emphasis has been put mostly on the assessment of fetal/infantile health status and the prevention of malformations and genetic diseases. This computerised system greatly facilitates the correct assessment of statistical parameters in related medical fields and provides better possibilities for studying the cause and effect relationship between the efficacy of medical care and perinatal events.(ABSTRACT TRUNCATED AT 250 WORDS)

Birth Rate↗

PubMed1990

[In utero creation of a reno-amniotic shunt for the preservation of a hydronephrotic fetal kidney].

The authors wish to discuss the successful decompression treatment of a serious, fast progressing one-sided hydronephrotic fetal kidney (that also caused deformation of abdominal and thoracic organs) in a 29th week pregnancy. Under the guidance of ultrasonography they created a permanent link between the amniotic cavity in the uterus and the pelvis of the kidney. As a final solution a pyelo-ureteral anastomosis operation was performed on the newborn that was delivered on the 37th gestational week. The baby is 11 months old at the moment and both of her two kidneys are functioning perfectly.

Adult↗

PubMed1990

[Familial occurrence of bilateral renal agenesis].

The 58 cases of bilateral renal agenesis (Potter syndrome) registered in the Genetic Counselling of our institute in the last 12 years are reviewed. The only recurrent case which has been prenatally diagnosed is described in details. An urinary bladder anomaly like that of the subsequent child has not been reported in such a family previously. The authors analyze the possible inheritance patterns taking into account the previous references, too. They suggest the malformation is a genetically heterogeneous entity. They emphasize that nowadays the birth of a newborn with bilateral renal agenesis can be prevented in all cases.

Abnormalities, Multiple↗

PubMed1990

Discriminant analysis for assessing the value of amniotic fluid microvillar enzymes in the prenatal diagnosis of cystic fibrosis.

We have analysed the sensitivity, specificity, and reliability of biochemical diagnosis based on microvillar membrane enzyme assay and using discriminant analysis in amniotic fluid samples obtained from 54 pregnancies at high risk for cystic fibrosis and 125 normal pregnancies. Our results show that amniotic fluid trehalase, alkaline phosphatase, alkaline phosphatase isoenzymes and gamma-glutamyltransferase enzyme activities measured during 16-20 gestational weeks, in spite of their non-specificity for cystic fibrosis, have a very good predictive value for fetal cystic fibrosis or exclude the possibility of the disease. Overall enzyme activity analysis provided over 90 per cent reliability of the method.

Alkaline Phosphatase↗

PubMed1990

Amniotic fluid microvillar enzyme activity in fetal malformations.

Prenatal diagnosis of cystic fibrosis based on amniotic fluid microvillar enzyme activity assay has become routine practice in the past few years. Normal (median) values of these enzymes were determined in 177 normal healthy pregnancies between 15-20 gestational weeks and were related to enzyme values measured in 50 pregnancies complicated with congenital malformations, 6 monogenic inherited diseases and 4 chromosomal aberrations. It is concluded that increased trehalase activity has diagnostic importance in detecting fetal kidney diseases, and radial-renal syndrome (with elevated GGT activity), while low enzyme activities may indicate chromosomal aberrations (with no signs of intestinal obstruction). With the collection of further data, the analysis of these enzymes might provide an opportunity to set up diagnostic procedures for the detection of other, non-CF-related cases.

Alkaline Phosphatase↗

PubMed1990

First trimester diagnosis of cystic fibrosis with linked DNA probes.

In late 1985 the cystic fibrosis (CF) gene was located to chromosome 7, at 7q 22/31. Several restriction fragment length polymorphism (RFLP) markers are closely linked to the CF gene. These markers permit accurate first-trimester prenatal diagnosis based on analysis of chorionic villus DNA by studies of families with one or more affected children. In our laboratory 13 families at risk of having a child with CF have been counselled by the use of linked DNA probes: xV-2c; pCS.7; Met H; Met D; pJ3.11; KM 19. In all cases one or more of the mentioned probes were sufficiently informative to allow first-trimester prenatal diagnosis. In four of the 13 families tested prenatal diagnosis have been performed.

Cystic Fibrosis↗

PubMed1990

Pathological confirmation of foetal cystic fibrosis following prenatal diagnosis.

Here we report on the results of histopathological analysis of several organs of 5 foetuses and 2 newborn infants with cystic fibrosis. They were examined with HE, PAS, AB, HID and "Stains-all" techniques on paraffin sections. We concluded that there were significant differences in the epithelial mucin composition of several organs of the effected foetuses compared to 6 controls as early as the 17th week of gestation. An increase in the amount of neutral and acidic mucins was observed in the acini of the pancreas, bronchi and the mucosa of the gastrointestinal tract accompanied with a well defined decrease of sialic acid rich components of pharyngeal submucosal glands.

Cystic Fibrosis↗

PubMed1990

First trimester chorionic villus sampling for DNA analysis.

Early prenatal diagnosis of cystic fibrosis (CF) has become possible after the identification of linked DNA markers on chromosome 7. Chorionic villus sampling (CVS) has made possible the first-trimester prenatal diagnosis of CF. We report our experience of 336 pregnant women between 8-12th week. Six different types of sampling devices have been used to get chorionic tissue. Our results proved that the quantity and the quality of the sample gained was the same irrespective of the method employed in obtaining them.

Chorionic Villi Sampling↗

PubMed1990

Genetic counselling and prenatal diagnosis of cystic fibrosis in Debrecen (Hungary)--prenatal diagnosis by microvillar enzyme assay from amniotic fluid.

Amniotic fluid intestinal alkaline phosphatase, gammaglutamyltransferase and trehalase activity were quantitated to assess their reliability for the prenatal diagnosis of cystic fibrosis. To obtain optimal diagnostic discrimination, the three enzyme values obtained for each sample were combined into a single linear discriminant function that proved to be a more accurate indicator of the outcome of the pregnancy. From the cases studied here, it appears that this method can be expected to give a correct prediction in 92.0% of all high risk pregnancies.

Amniotic Fluid↗

PubMed1990

Ultrasound diagnosis and screening of fetal cystic fibrosis.

By ultrasound examination of high risk pregnancies for cystic fibrosis in some cases echogenic areas and dilated bowels could be demonstrated. These signs could be detected in 75% of those cases where biochemical assay of the amniotic fluid proved the fetus to be affected with cystic fibrosis. Having got these results authors started to look for these signs during the screening of normal pregnancies. Out of 22 thousand screened pregnancies 28 amniocenteses have been performed because of the ultrasound finding and in 18 cases the low microvillar enzyme activity also predicted cystic fibrosis.

Amniotic Fluid↗

PubMed1990

Invasive intrauterine procedures in twin pregnancies discordant for fetal malformation.

Invasive intrauterine procedures in two twin pregnancies for exencephaly and multiple malformations are reported. In the first case, to ensure the development of the normal fetus, selective feticide of the affected fetus was undertaken by transabdominal intracardial injection of 20% NaCl solution. A healthy newborn infant with normal weight and a fetus papyraceus were delivered at term. In the second case, because of monoamnial placentation, the procedure was regarded too dangerous, therefore, only therapeutic amniocentesis was carried out to decrease the volume of amniotic fluid. The fetuses were delivered in the preterm period. The advantages of the procedure of selective feticide developed by the authors are also discussed.

Abortion, Induced↗