Trophoblast-like cells sorted from peripheral maternal blood using flow cytometry: A multiparametric study involving transmission electron microscopy and fetal dna amplification

Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male fetuses. At the ultra-structural level, most of the nucleated cells had the morphology of leucocytes, suggesting maternal contaminants, and we did not find the characteristic features of the free inter-villous trophoblast cells. Nevertheless, polymerase chain reaction (PCR) analysis showed an amplification of Y-specific sequences in two out of three samples of sorted TLCs. These results suggest that besides the maternal leucocytes, sufficient trophoblast nucleated fetal cells can be obtained using cell enrichment by sorting. This sensitive method holds promise for non-invasive prenatal diagnosis of fetal sex and if sufficient Y(positive) nuclei are found, for the diagnosis of selected numerical chromosome abnormalities.     

Study on Assessing Economic Vulnerability of Small Island Regions

The main purpose of this study is to assess economic vulnerability of small island development regions as part of their sustainability constraints. By combining economic and environmental time series data, we assessed a composite index of economic vulnerability which is constructed from three exogenous variables, namely economic exposure, economic remoteness, and economic impact of environmental and natural disasters. We used the Amami Islands, Kagoshima Prefecture, Japan as the case studies for this paper.The results indicated that using a gross island products based valuation index, Kikaijima is the most vulnerable island in the Amami Islands with a composite economic vulnerability index (CEVI) value of 0.678, while by using a per capita based index, Okinoerabujima is considered the most vulnerable island with a CEVI value of 0.680. From the results we also revealed that smaller islands have relative higher vulnerability than the bigger one, which also confirms some previous country-level vulnerability studies.However, it is matter of fact that some islands that have relatively high vulnerability also have good economic performance as shown by their per capita income. In this regard, it can be argued that the success of these small islands could have been achieved in spite of and not because of their inherent vulnerability conditions as an indicator of sustainability constraint. Regarding these findings, we also examined a comparison between vulnerability results and the preliminary concept of an island's resilience in order to capture another perspective on sustainability assessment in a small island region.     

Isotope tracing of submarine groundwater discharge offshore Ubatuba, Brazil: results of the IAEA–UNESCO SGD project

Results of groundwater and seawater analyses for radioactive (³H, ²²²Rn, ²²³Ra, ²²⁴Ra, ²²⁶Ra, and ²²⁸Ra) and stable (D and ¹⁸O) isotopes are presented together with in situ spatial mapping and time series ²²²Rn measurements in seawater, direct seepage measurements using manual and automated seepage meters, pore water investigations using different tracers and piezometric techniques, and geoelectric surveys probing the coast. This study represents first time that such a new complex arsenal of radioactive and non-radioactive tracer techniques and geophysical methods have been used for simultaneous submarine groundwater discharge (SGD) investigations. Large fluctuations of SGD fluxes were observed at sites situated only a few meters apart (from 0 cm d⁻¹ to 360 cm d⁻¹; the unit represents cm³/cm²/day), as well as during a few hours (from 0 cm d⁻¹ to 110 cm d⁻¹), strongly depending on the tidal fluctuations. The average SGD flux estimated from continuous ²²²Rn measurements is 17 ± 10 cm d⁻¹. Integrated coastal SGD flux estimated for the Ubatuba coast using radium isotopes is about 7 × 10³ m³ d⁻¹ per km of the coast. The isotopic composition (δD and δ¹⁸O) of submarine waters was characterised by significant variability and heavy isotope enrichment, indicating that the contribution of groundwater in submarine waters varied from a small percentage to 20%. However, this contribution with increasing offshore distance became negligible. Automated seepage meters and time series measurements of ²²²Rn activity concentration showed a negative correlation between the SGD rates and tidal stage. This is likely caused by sea level changes as tidal effects induce variations of hydraulic gradients. The geoelectric probing and piezometric measurements contributed to better understanding of the spatial distribution of different water masses present along the coast. The radium isotope data showed scattered distributions with offshore distance, which imply that seawater in a complex coast with many small bays and islands was influenced by local currents and groundwater/seawater mixing. This has also been confirmed by a relatively short residence time of 1–2 weeks for water within 25 km offshore, as obtained by short-lived radium isotopes. The irregular distribution of SGD seen at Ubatuba is a characteristic of fractured rock aquifers, fed by coastal groundwater and recirculated seawater with small admixtures of groundwater, which is of potential environmental concern and has implications on the management of freshwater resources in the region.     

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.     

Prenatal diagnosis of Juberg–Hayward syndrome

Juberg–Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg–Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg–Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd.