Biomedical subjects

K Hajdu

Publications and source records attributed to K Hajdu.

At least 19 recordsLinked to original sources

PubMed2001

AZFc deletion detected in a newborn with prenatally diagnosed Yq deletion.

A case of prenatally diagnosed Yq deletion is described. Fluorescence in situ hybridisation (FISH) was used to identify the abnormal chromosome and to exclude mosaicism. Based on the cytogenetic result and the ultrasound investigation the pregnancy was continued. A newborn with normal male genitalia was delivered. Microdeletion analysis of the Yq showed the absence of the AZFc region. This type of deletion has been described as being associated with azoospermia or oligozoospermia with a progressive decrease of sperm number over time. Long-term andrological follow-up of the newborn will be necessary with eventual cryoconservation of sperm at early adulthood. The present report proposes that AZF analysis combined with FISH has an important role in accurate genetic counselling in sex chromosome anomalies.

Adult↗

PubMed2001

Fluorescence in situ hybridization of chorionic interphase cells for prenatal screening of Down syndrome.

OBJECTIVE: Our purpose was to determine the usefulness and reliability of fluorescence in situ hybridization on interphase chorionic villi cells in the prenatal diagnosis of Down syndrome. METHODS: A total of 336 samples of chorionic villi were analysed by direct chromosome preparation and FISH with a DNA probe specific to chromosome 21. The samples were obtained as part of the routine obstetric investigation and management. RESULTS: The sampling and direct karyotyping was successful in all cases. At least 50 cells were valuable by FISH in 331 of 336 samples. Both methods showed Down syndrome in 12 cases. The follow-up investigations showed that there was no false-negative or false-positive result following these procedures. CONCLUSION: Based on these results and the fact that it is possible to analyse by interphase FISH at least ten times more cells than by conventional cytogenetic methods, and these cells originate from different tissues of chorionic villi, it is concluded that FISH increases the reliability of the diagnosis. Nevertheless, more data are needed for correct statistical analysis. Since this method is cheaper and gives diagnosis earlier than cell culture, the combination of direct chromosome preparation and FISH on chorionic villi is offered for prenatal Down syndrome screening.

Chorionic Villi↗

PubMed1999

[Respiratory insufficiency amd pregnancy in cystic fibrosis].

Cystic fibrosis is one of the most serious genetic disorders. The survival and the quality of life of our patients have also been improved in the last decade. The number of patients entering the reproductive age is increasing. The young women in good somatic condition may undertake pregnancy. The desire for a full life and for a child may arise at patients with respiratory insufficiency too. Authors list the maternal and fetal risks of the pregnancy in cystic fibrosis by a case report. As a result of multidisciplinary team work a boy was born. The mother died in progressive and uninfluencable respiratory insufficiency being on waiting-list for lung transplantation 15 months after the delivery.

Cystic Fibrosis↗

PubMed1996

[Intrauterine management of Rh-alloimmunization].

The authors report the strategy of invasive management of Rh alloimmunisation in pregnancy. From the 34 pregnancies 6 were monitored by amniocenteses, 11 by fetal blood sampling, and 4 with combination of the two above mentioned diagnostic procedures. In 13 cases the fetuses were treated with intrauterine intravascular blood transfusions. All the procedures were ultrasound guided. The fetal blood sampling and the transfusions were carried out by puncturing the umbilical vein or artery. For transfusions, maternal blood was used in case of identical blood type, otherwise adult Rh negative, filtered, washed, irradiated blood was transfused. They report the complications as well, giving the cause of their fetal losses in details. There were no maternal complications observed. Out of the 34 pregnant women 25 had healthy newborns, which number is acceptable in this disease with a very high mortality rate. The authors underline that the technique of fetal blood sampling and intrauterine transfusion if needed is necessary in the management of Rh alloimmunised pregnancies.

Adult↗

PubMed1996

[Fluorescence in situ hybridization in prenatal diagnosis. First experiences].

The authors examined the potential use of non-radioactive in situ hybridization in prenatal screening. Probes for chromosomes 18, 13/21, 21 and X were applied on fourteen samples of peripheral lymphocytes and nine samples of chorionic villi. The aim of the study was to compare the analyzability of the two different DNA probes for chromosome 21 on six samples of chorionic villi. Six of the nine samples of chorionic villi were hybridized with probes specific for chromosome 21 and all six cases were diagnosed properly. However, we need more data to establish a screening protocol for routine prenatal cytogenetics.

Chromosomes, Human, Pair 13↗

PubMed1993

Stem cell transplantation.

Modern physicians desire not only to treat but to cure congenital diseases. In a wide variety of diseases, bone marrow transplantation can be the tool of final cure. The limitations and risks of this procedure have motivated researchers to search for an earlier and safer method of treatment. Special features of fetal immune systems make it possible to perform the transplantation during fetal life using fetal hematopoietic stem cells, thus avoiding many of the side effects of bone marrow transplantation in neonatal life. We review the experimental work done with animal models in this field and the human trials that have been published recently.

Animals↗

PubMed1992

[Results of prenatal cytogenetic screening at the Prenatal Genetic Center of the Postgraduate Medical University between 1980-1990].

Evaluation of prenatal cytogenetic diagnosis by Genetic Center of Postgraduate Medical University in 1980 and 1990. Between 1980 and 1990, 1039 amniocenteses (AC), 1263 chorionic villus samples (CVS), and 30 fetal blood sampling were performed for cytogenetic reasons. The rate of chromosome abnormalities were 5.5 per cent in the first trimester CVS, 5.2 per cent in the second trimester CVS, and 3.1 per cent in AC. The Down syndrome was the most frequent abnormality (46 fetuses) and the next was the Edwards syndrome (15 cases). It was established that though the case number is fourteen times more than the beginning of this decade, this was enough only for screening women 39 or over. During this period several new methods were introduced making possible the diagnosis from 9th week of pregnancy until term. Among these methods the CVS has not only become an alternative to the AC but now it is the most frequent procedure in our laboratory. Though most pregnants are still referred for prenatal cytogenetic investigation because of their advanced age, the authors search for other risk factors which would make possible screening in younger women, too.

Amniocentesis↗

PubMed1992

Tetraploidy in human placenta. A dilemma in molar and non-molar pregnancies.

17 cases of partial molar pregnancy were analysed cytogenetically by the direct-preparation method. Eight partial moles were triploid, 7 diploid/tetraploid mosaic, and 2 tetraploid. In the course of prenatal cytogenetic screening, out of 1,263 chorionic villus samplings, 2 tetraploid and 1 diploid/tetraploid cases were found. These cases of partial moles do not fit into the usual patterns of triploid partial moles. The findings presented here suggest that different causative factors may be involved in the origin of molar degenerations. These results also call to attention that tetraploidy is an existent and relatively common abnormality.

Adult↗

PubMed1991

[Sneddon syndrome (livedo and cerebrovascular lesion)].

A typical syndrome going on with skin (livedo racemosa generalisata) and brain (ischemic vascular) involvement is presented. Symptoms of skin and nervous system are made known in detail, as well as possibility of early diagnosis and standpoint of treatment.

Adult↗

PubMed1991

[Transabdominal chorion aspiration in the second pregnancy trimester].

The authors report their experiences with 377 transabdominal chorionic villi samplings performed in the second trimester of pregnancy, between 1987-1989. They used the double needle technique with continuous ultrasound guidance. In every case they could get a sufficient amount of villi from one puncture, and there was no unsuccessful direct chromosome-preparation. The obstetrical complications of the procedure were measured by the analysis of the outcome of the first 300 pregnancies intended to continue: the abortion rate after the transabdominal chorionic villi sampling seems to be lower, than after amniocentesis.

Adult↗

PubMed1991

Prenatal cytogenetic study of translocation carriers.

A total of 37 prenatal diagnoses were analysed: 10 observations in which one of the parents carried a Robertsonian translocation and 27 observations in which one a reciprocal translocation was carried by one of the parents. The segregations of the inherited chromosome structural rearrangements were analysed in relation to the methods of ascertainment of the anomaly in the family, and the types of rearrangement. The mode of ascertainment proved to be a very useful indicator of the risk: those cases ascertained through abnormal livebirths had a 44% risk in our series, but there was no unbalanced fetus in the group ascertained through recurrent abortions.

Chromosomes, Human, Pair 21↗

PubMed1990

[Fetal diagnosis of Edwards syndrome].

Eight cases of Edward's syndrome were found prenatally by cytogenetical analysis of 1680 pregnant women. It has been estimated that after Down's syndrome Edwards's syndrome is the most frequently encountered chromosomal abnormality. This syndrome is associated with high rate of anomalies detectable by ultrasound (e.g. omphalocele, polyhydramnion, growth retardation). Here it is discussed in relation with sonographical findings related to Edwards's syndrome and representing clear indications for chromosomal analysis. The authors call attention to the importance of the diagnosis of Edward's syndrome at each gestational age.

Abnormalities, Multiple↗

PubMed1989

[Urinary incontinence in the female over 60 years of age--urodynamic findings].

A group of 20 urinary continent postmenopausal women and two stress incontinent groups in the age of 60-69 and 70-79 years have been examined concerning standardized conditions without and with stress. The measurements using the pneumatic-hydraulic pump perfusion were recorded under standardized conditions. The whole pressure profile without stress decreased with increasing age and with stress incontinence. The maximum urethra closure pressure has been displaced in the distal part of the urethra. The stress profile demonstrated a shortening of the continence zone, a clear decrease of the urethra closure pressure and a bad pressure transmission in the whole urethra, especially in its distal part. These fluctuations make us expect, that there are only a few promising possibilities of conservative treatment in stress incontinent postmenopausal women over 70 years.

Aged↗

PubMed1987