[Ethical and psychological problems of infertile couples in genetic counseling]. / Etické a psychologické problémy infertilních páru v genetickém poradenství.

Study of attitudes and psychological opinions of infertile couples by anonymous questionnaires (answered separately by men and women), including 8 questions an supplement by 2 pages of explaining text. The questionnaires were sent to 140 couples (280 persons), 37 couples answered (74 persons). The majority of these couples prefer assisted reproduction to adoption and they accept all varieties of these techniques. When donors are used, these couples wish to keep complete anonymity. They are prepared to pay for these procedures, even though they would prefer the opposite. The opinions of men and women did not differ greatly. However, the majority of men prefer choice of the baby's sex. This is not allowed in our and other European countries by law (with exception of families with X-linked genetic diseases).

Influence of different occupations with possible mutagenic effects on reproduction and level of induced chromosomal aberrations in peripheral blood.

In a group of 200 dysfertile couples (400 persons), the possible role of different occupations in failures of reproduction was assessed. These couples were examined from different points of view, classical genetic examination (pedigree, kayrotype, etc.) included. The suspected genotoxic effects in the personal history were checked also by testing the level of induced chromosomal aberrations. A significantly increased level of induced chromosomal aberrations was detected in 37 persons, i.e., 9.3% of the whole group under study. The average level of induced aberration in these subjects was 6.8%, as opposed to the control group (fertile and dysfertile persons without any unusual exposure to mutagens) with a mean of 1.58% aberrant cells in peripheral blood. Most of the occupations with demonstrated genotoxic effects involve daily contact with chemicals of different types. In some persons also intensive therapy in the recent past had genotoxic effects.

The direct early diagnosis of cystic fibrosis by the detection of the delta F508 CFTR gene mutation in a prematurely delivered boy.

The suspicion of prenatal meconium ileus syndrome was raised in a pregnancy in a family with no history of cystic fibrosis because of significantly higher maternal serum alpha-fetoprotein in the 16th and 19th week of gestation, dispersed areas with increased echogenity in the fetal abdomen, slight fetal ascites in the 24th-25th weeks of gestation, decreased amniotic fluid gamma-glutamyltranspeptidase (GGT) activity and alpha-fetoprotein level in the 25th-26th weeks, and normal 46,XY karotype of the fetus. The detection of a homozygous deltaF508 cystic fibrosis transmembrane regulator (CFTR) gene mutation, by means of PCR from a small amount of white blood cells and urine sediment cells, substantiated the diagnosis of cystic fibrosis in a prematurely delivered boy in the 28th week of gestation. The repeated sweat test was unsuccessful. The autopsy examination confirmed the diagnosis of cystic fibrosis. Fetal meconium ileus syndrome was complicated by peritonitis and by formation of a meconium pseudocyst. Direct PCR typing improves postnatal diagnostic possibilities in the early neonatal period in prematurely delivered babies when the sweat test is difficult to perform.

Clinical and molecular problems of polycystic kidney disease.

Using nephrological, genealogical and molecular genetic methods, the authors examined 85 members of 19 families with autosomal dominant polycystic kidney disease. With the aid of probe 3'HVR, alpha-globin and restriction endonuclease Pvu II, the families were found 95% informative. The rate of diagnostic reliability was also 95%. The authors verified the homogeneity of the disease in the Czech population and the applicability of the probe and endonuclease for molecular gene diagnostics in the population.

[Clinical and molecular problems in polycystic kidneys]. / Klinická a molekulární problematika polycystických ledvin.

The authors examined, using nephrological, genealogical and molecular genetic methods, 85 subjects from 19 families with autosomal dominant heredity of polycystic kidney disease. Using the probe 3HVR alpha-globin and restriction endonuclease Pvu II, the authors assessed 95% informative families in the given group and the reliability of the diagnosis was also 95%. The authors tested the homogeneity of the disease in the Czech population and the applicability of the mentioned probe and endonuclease for molecular genetic testing of our population.

The possible mutagenic effect of the occupation of TV announcer.

In a group of TV announcers, a significant increase in the number of classical aberrations was detected in peripheral blood: 7.5 +/- 3.477% in comparison with 3 control groups (A - 7 healthy women matched for sex, age and place of residence, B - 9 members of TV technical staff, C - 9 actors and actresses) with a mean aberration level of 2.96 +/- 1.136. SCE numbers were not increased in the TV announcers compared to controls. An increased frequency of reproduction failure has also been noticed in TV announcers (females). A decrease in the level of aberrant cells was noticed when the announcer had been on holiday, although this was not statistically significant. The possible mutagens in the working environment of TV announcers are discussed; there is a suspicion that azodyes, present in cosmetics or other chemicals, may be the mutagenic factor.