Prenatal diagnosis of cystinosis utilizing chorionic villus sampling

The prenatal diagnosis of cystinosis is currently based on the increased amount of free-cystine present in amniotic fluid cells. Amniocyte cultures must be grown for at least 2 weeks to obtain sufficient cells for such measurements. Thus, the diagnosis cannot be made until close to 20 weeks gestational age by this method. We report a case in which chorionic villi were used for direct cystine measurement resulting in the in utero diagnosis of cystinosis at 9 weeks gestational age. The diagnosis was confirmed by the study of cultured chorionic villus cells, and of the 10-week abortus.     

Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis

The nature and origin of two de novo small marker chromosomes found at prenatal diagnosis were determined by fluorescence in situ hybridization using chromosome centromere-specific probes and chromosome-specific plasmid libraries. One marker was found in a mosaic state and was shown to be an i(18p). The second marker was characterized as an inv dup(22). We conclude that molecular cytogenetic analysis contributes to the identification of marker chromosomes and therefore facilitates genetic counselling and decision-making for the parents.     

Introduction of early amniocentesis to routine prenatal diagnosis

With growing awareness of the problems associated with prenatal cytogenetic diagnoses after CVS, attempts have been made to provide early amniocentesis as an alternative to CVS. Since 1990, at our clinic the gestational age limit for routine diagnostic amniocentesis has been successively lowered, first to 14 and then to 13 weeks of gestation. Thus, 811 prenatal diagnoses were performed after early amniocentesis at 13 weeks (n = 217) and at 14 weeks of gestation (n = 594). No problems were encountered. Culture failure was never observed in the early samples. Using the criteria ‘number of colonies’ and ‘culture duration until harvest’, early samples taken at 14 weeks did not differ significantly from the controls after standard amniocentesis performed at 15 and 16 weeks, respectively, whereas a minority of samples taken at 13 weeks experienced some delay in culturing. However, in each group at least 85 per cent of samples led to a diagnosis fulfilling our standard criteria of a safe diagnosis (at least 20 metaphases of at least five colonies from at least one primary culture after trypsinization) within 15 days. Some differences between the different groups can be recognized: culture duration of less than 11 days tends to be increasing after standard amniocentesis, whereas long culture duration (more than 20 days) is more often associated with early amniocentesis. However, this trend is only minimal and did not result in an increased risk of missing a diagnosis.     

Limb reduction and chorion villus sampling

Upper limb reduction was diagnosed by ultrasound scan at 17 weeks after chorion villus sampling at 9 weeks' gestation. Pregnancy was terminated and necropsy confirmed limb reduction in an otherwise normal fetus. The relationship of limb reduction to amniotic band syndrome is discussed.     

Predator odour and its impact on male fertility and reproduction in Phodopus campbelli hamsters

 This study investigated the influence of cat urine odour in suppressing development and fertility in Campbell's hamster males. Exposure to this odour from postnatal day 11 until day 45 (sexual maturation) resulted in reduced sex organ weights, reduced testosterone levels and in an increase in abnormalities of the synaptonemal complex in both sex chromosomes and autosomes. Subsequent breeding experiments revealed a significant decrease in litter size. All these data indicate a severe effect of predator odour on the breeding success of potential prey species. It is assumed that these effects are caused by the sulphurous compounds in the urine; however, the underlying mechanisms are not yet known. Received: 31 January 2000 / Accepted in revised form: 6 June 2000     

Gold mining in Siberia and the Far East as a source of mercury contamination of the environment

ＩｎｔｒｏｄｕｃｔｉｏｎＳｉｂｅｒｉａａｎｄｔｈｅＦａｒＥａｓｔａｒｅｔｈｅｏｌｄｅｓｔａｎｄｔｈｅｒｉｃｈｅｓｔｇｏｌｄ ｍｉｎｉｎｇａｒｅａｓｏｆＲｕｓｓｉａ .Ｉｎｔｅｎｓｉｖｅｇｏｌｄ ｍｉｎｉｎｇｈｅｒｅｓｔａｒｔｅｄｉｎｔｈｅｂｅｇｉｎｎｉｎｇｏｆｔｈｅ 19ｔｈｃｅｎｔｕｒｙ(Ｖｙａｚｅｌｓｈｃｈｉｋｏｖ ,1963) .Ｆｏｒｔｈｅｍｏｓｔｐａｒｔｇｏｌｄ ｂｅａｒｉｎｇｏｒｅｓａｎｄｓａｎｄｓｗｅｒｅｐｒｏｃｅｓｓｅｄｗｉｔｈｔｈｅｕｓｅｏｆａｍａｌｇａｍａｔｉｏｎｍｅｔｈｏｄｆｏｒｇｏｌｄｅ…