Decision making during the prenatal diagnostic procedure. A questionnaire and interview study of 211 women participating in prenatal diagnosis

Counselling in connection with prenatal diagnosis (PND) is a common task for the obstetrician and the midwife. However, the decision making processes of pregnant women are not completely known, for instance, the questions of women's autonomy, the decision on how to act in the case of an abnormal test, and the partner's participation in the decision. A questionnaire and interview study was carried out among 211 women undergoing PND by amniocentesis or chorionic villus biopsy. Most women in the sample indicated that PND was completely voluntary. However, at the same time almost every woman reported that it was difficult to decline from PND when offered. Even before the visit to register at the antenatal clinic, most of the women (83 per cent) had made up their minds to have PND. At the time of the test, many of the participants (62 per cent) had decided in favour of a legal abortion if the test indicated an abnormality in the fetus. At the same time, however, the data indicate a need for reflection and ambivalence, which the medical staff have to accept. In the questionnaire most of the women stated that they and their partners had similar attitudes towards PND, but when interviewed 38 per cent of the women admitted some differences between their own attitudes and their partners'. Although some women reported considerable deliberation and ambivalence, most of them said that they would undergo PND in another pregnancy.     

Successful DNA-based prenatal exclusion of juvenile neuronal ceroid lipofuscinosis

A family with two siblings, 10 and 8 years old, both with clinical and ultrastructural evidence of juvenile neuronal ceroid lipofuscinosis is described. The family was found to be informative for the restriction fragment length polymorphisms (RFLPs) detected by the probes pCJ52–95Ml (locus D16S148) and pCJ52-94Tl (locus D16S159) flanking the juvenile neuronal ceroid lipofuscinosis locus, CLN3. The parents were both heterozygous using these probes, while their two children with juvenile neuronal ceroid lipofuscinosis were both homozygous. Chorionic villi analysis showed that the fetus was heterozygous and had inherited the one allele of the mother which was not found in the two siblings. This suggested that the fetus had derived one healthy allele from the mother, the risk for a double crossing-over being less than 1 per cent. Electron microscopy showed no fingerprint inclusions in chorionic villi. The child was investigated at 6 months of age and found to be healthy, as new fingerprint inclusions were found at electron microscopy and no vacuolated lymphocytes were found in the blood smear. Due to the risk of heterogeneity, both DNA-based analysis and electron microscopy on chorionic villi are recommended for prenatal examination for juvenile neuronal ceroid lipofuscinosis.     

Prenatal investigation of a 45,X/46,X,r(?) karyotype in amniocytes using fluorescence in situ hybridization with an X-centromeric probe

The karyotype of cultured amniotic fluid cells obtained on the indication of advanced maternal age was shown to be a mosaic 45,X/46,X,r(?). The small size and banding pattern made it difficult to determine whether the ring was derived from and X or a Y chromosome, or even from an autosome. By using an X-centromeric probe and fluorescence in situ hybridization (FISH), we demonstrated the ring to have an X centromere. Thus, a more complete genetic counselling was possible. This confirms the usefulness of FISH in identifying and characterizing this and other chromosome rearrangements in prenatal diagnosis.     

Optical Imaging of Odor-Evoked Glomerular Activity Patterns in the Antennal Lobes of the Ant Camponotus rufipes

 Ants have a well developed olfactory sense, which they need both for the perception of environmental chemicals, and for a highly sophisticated intraspecific communication system based on pheromones. The question arises therefore as to how different odors are coded in the antennal lobe, the first central neuropil to process olfactory information. We measured odor-evoked activity patterns using in vivo neuropil calcium recording in the antennal lobe of the ant Camponotus rufipes. We found that (a) odors elicit focal activity spots (diameter ca. 20 μm) which most probably represent the olfactory glomeruli; (b) different odors are coded in odor specific patterns of such activated spots, and a particular spot can participate in the pattern for different odors; (c) calcium increased in the activated spots within the 2-s stimulation period and slowly declined thereafter. Received: 10 March 1999 / Accepted in revised form: 5 July 1999     

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.     

Online-Patentrecherchen — schnelle Antworten auf kritische Fragen

Online searching in publically available patent files opens up interesting possibilities to provide a rapid response to critical questions. A computerized analysis of all patents of leading German pharmaceutical companies over the last decade in important indication areas is described. Supported by subsequent manual processing of individual patents it is shown that duplicate experiments on animals practically never occur.     

Climate change and temperature-dependent biogeography: oxygen limitation of thermal tolerance in animals

Recent years have shown a rise in mean global temperatures and a shift in the geographical distribution of ectothermic animals. For a cause and effect analysis the present paper discusses those physiological processes limiting thermal tolerance. The lower heat tolerance in metazoa compared with unicellular eukaryotes and bacteria suggests that a complex systemic rather than molecular process is limiting in metazoa. Whole-animal aerobic scope appears as the first process limited at low and high temperatures, linked to the progressively insufficient capacity of circulation and ventilation. Oxygen levels in body fluids may decrease, reflecting excessive oxygen demand at high temperatures or insufficient aerobic capacity of mitochondria at low temperatures. Aerobic scope falls at temperatures beyond the thermal optimum and vanishes at low or high critical temperatures when transition to an anaerobic mitochondrial metabolism occurs. The adjustment of mitochondrial densities on top of parallel molecular or membrane adjustments appears crucial for maintaining aerobic scope and for shifting thermal tolerance. In conclusion, the capacity of oxygen delivery matches full aerobic scope only within the thermal optimum. At temperatures outside this range, only time-limited survival is supported by residual aerobic scope, then anaerobic metabolism and finally molecular protection by heat shock proteins and antioxidative defence. In a cause and effect hierarchy, the progressive increase in oxygen limitation at extreme temperatures may even enhance oxidative and denaturation stress. As a corollary, capacity limitations at a complex level of organisation, the oxygen delivery system, define thermal tolerance limits before molecular functions become disturbed.