A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis

The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: β-thalassaemia, sickle-cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X-linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low-cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3′-HVR/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DNA was isolated directly from chorionic villi samples (CVS), and in one case with DNA isolated directly from amniotic fluid (AF). In almost 90% of cases a simple test of one polymorphic locus provided sufficient information about MCC. The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non-informative sites about MCC. Copyright © 2002 John Wiley & Sons, Ltd.     

Ecophysiological indicators of the state of animal populations exposed to damaging factors

Indices of abundance and reproduction rate are considered in some groups of aquatic and terrestrial vertebrates from the zones of technogenic disasters. Upon a critical population decline caused by external destructive factors, such as emissions of acute ecotoxicants, the ecophysiological and behavioral compensatory mechanisms are activated, which provide for restoration of the total population size to the optimum within a short period of time. Environmental pollution with substances disturbing the reproductive function has the gravest consequences for animals. In this case, population size may remain fairly high, and, therefore, the effect of enhanced reproduction as a response to population decline does not take place, which eventually leads to a gradual but irreversible destruction of the population. Pathologies of reproduction should be used as a criterion for assessing the state of animals in the zones of technogenic disasters.Translated from Ekologiya, No. 1, 2005, pp. 32–38.Original Russian Text Copyright © 2005 by Shilova, Shatunovskii.     

Dandy – Walker syndrome and corpus callosum agenesis in 5p deletion

5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. Only a few cases have been reported prenatally, and the fetal form of the syndrome has not been clearly individualised. We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy–Walker syndrome and agenesis of the corpus callosum. Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations. Copyright © 2005 John Wiley & Sons, Ltd.     

Towards a smallholder hydrology for equitable and sustainable water management

Situations of water scarcity challenge sustainability and threaten small users' access to water. In response to this problem, there has been a search for a method of hydrological analysis that can better represent the needs of small water users. While this search is rooted in the debate favouring a more participatory and inclusive allocation of the resource, it also requires a new focus on smallholder hydrology that can confront the gaps and biases found in current hydrological practices in many countries. This article looks at past hydrological practices and also at results of recent studies, highlighting the perspective of smallholder irrigators in surface water planning in Zimbabwe, and groundwater planning in India. These case studies show that wider social forces, not always best science, drive hydrological practices. However, new frameworks focusing on the water user can emerge for more equitable and sustainable water management.     

Deep chlorophyll maximum distribution in the central Tyrrhenian Sea described by a towed undulating vehicle

The towed undulating vehicle (TUV), named SARAGO, was used for two fine-scale surveys between the Italian and the Sardinian coasts during the Astraea 2 cruise (6-7 and 26-27 September 1995), studying the deep chlorophyll maximum distribution. SARAGO sections identify a sub-surface doming with higher chlorophyll a and primary production concentrations in the upwelling area of a cyclonic gyre region, detected by sea-surface temperature images. In the first section, the cyclone presents a double doming, in density and salinity, with shallower and concentrated patches of chlorophyll a for about 2 miles. Twenty days later, the second section shows that the gyre changes shape and extension, showing a single doming with higher primary production and chlorophyll a concentrations, distributed over a large area of about 40 nautical miles. SARAGO allows analysis of this high-variability phenomenon (cyclonic gyre) and allows concentrated patches (2 nm) to be identified, thus proving the importance of TUVs in the study of mesoscale processes.