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Biomedical subjects

M Németi

Publications and source records attributed to M Németi.

8 recordsLinked to original sources
PubMed1992

[Prenatal diagnosis of cystic fibrosis by mutational analysis].

The authors give a review about the latest method of the prenatal diagnosis of cystic fibrosis. Examples were chosen from their own cases to illustrate the possibilities of the prenatal diagnosis based on the mutation analysis of the CFTR gene. Using both mutation and haplotype analysis, 10 prenatal diagnosis were performed from chorionic villus samples taken in the early stage of the pregnancy (10-12 weeks). There were 5 healthy and 5 affected fetuses found. The advantage of this method, that in certain cases, diagnosis is available for families having no live affected child.

Child↗
PubMed1991

[Experience with chorionic villi sampling].

The authors discuss their experiences from 412 chorion villus samplings, (CVS), which they have done under four and a half years since 1985. They used eight types of instruments in performing their examinations and each instrument proved to be satisfactory in the gaining of chorion villus samples, suitable for further tests. They also discuss the bacteria found most frequently in the vagina on the basis of the examination and culturing of both vaginal and cervical fluid done prior to 151 CVS examinations and the effective method with which ascending infection can be prevented. They discuss a distributional pattern of their results based on the different indications for the CVS examinations, and the outcome of each of the pregnancies after CVS. In 377 cases they did direct karyotyping, in 30 cases DNA examination and in five cases enzyme determination also occurred.

Bacterial Infections↗
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

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

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↗
PubMed1989

[Sex determination of the embryo by DNA studies of chorionic villi samples].

The first step in the prenatal diagnosis of X-linked genetic disorders is the determination of the sex of the fetus. A new method for this purpose is based on recombinant DNA technology. The authors give a short account on their experiences with a Y specific DNA probe. Fetal DNA was prepared from chorionic villi taken at the 8th-12th weeks of gestation. The DNA was hybridised with the Y specific probe. This probe was isolated from the 3,4 kilobase human repeat sequence derived from heterochromatin of the Y chromosome and had 1000 times more affinity for male DNA than for female DNA. The method based on hybridisation with the Y specific probe should facilitate first-trimester prenatal sex determination of X-linked genetic disorders.

Abortion, Legal↗