Rapid prenatal diagnosis of Patau's syndrome in a fetus with an abdominal wall defect by 72 hour culture of cells from amniotic fluid

A woman in the 32nd week of pregnancy was referred for investigation because of fetal abnormalities, including an abdominal wall defect, detected by ultrasonography. In view of the increased risk of chromosome abnormality, amniocentesis was performed to enable informed decisions about the management of the pregnancy and delivery to be taken. Cells from the liquor were inoculated into standard lymphocyte culture medium and incubated for 72 h. Slides with a high mitotic index and good quality metaphases, comparable to those from a blood culture, were obtained after harvesting. Cytogenetic analysis showed the karyotype to be 46,XY,—14,+t(13ql4q), which is consistent with Patau's syndrome. This technique appears to be an option for rapid karyotyping in cases of abdominal wall defect, where a chromosomal abnormality is suspected.     

Investigations of an intense aerosol loading during 2007 cyclone SIDR – A study using satellite data and ground measurements over Indian region

Tropical cyclones are prominent weather systems characterized by high atmospheric pressure gradients and wind speeds. Intense tropical cyclones occur in India during the pre-monsoon (spring), early monsoon (early summer), or post-monsoon (fall) periods. Originating in both the Bay of Bengal (BoB) and the Arabian Sea (AS), these tropical cyclones often attain velocities of more than 100 km h^?1 and are notorious for causing intense rain and storm surge as they cross the Indian coast. In this study, we examine the changes in the aerosol properties associated with an intense tropical cyclone “SIDR”, that occurred during 11–16 November 2007 over BoB. This cyclone, accompanied with very strong surface winds reaching 223 km h^?1, caused extensive damage over Bangladesh. Ground-based measurements of Aerosol Optical Depth (AOD) in the neighboring urban environment of Hyderabad, India, showed significant variations due to changes in wind velocity and direction associated with the cyclone passage. The Terra-MODIS and AVHRR satellite images showed prevalence of dust particles mixed with emissions from anthropogenic sources and biomass-burning AS, while the aerosol loading over BoB was significantly lower. The positive values of Aerosol index (AI) obtained from the Ozone Monitoring Instrument (OMI) suggested the presence of an elevated aerosol layer over the West coast of India, AS and Thar Desert during and after the cyclone episode. Meteorological parameters from the MM5 mesoscale model were used to study the variations in winds associated with the cyclonic activity. Particulate matter loading over the region during the cyclone period increased by ～45% with an accompanying decrease in columnar aerosol optical depth. The variations in Angstrom parameters suggested coarse-mode particle loading due to dust aerosols as observed in satellite data.     

Use of the chemical cleavage of mismatch method for prenatal deficiency diagnosis of alpha-1-antitrypsin

The most common mutation in alpha-1-antitrypsin deficiency, conversion of a G to an A at base 9989 (PI-Z), was detected with the chemical cleavage of mismatch method, demonstrating the power of the method for prenatal diagnosis. Exon V of the gene was amplified using the polymerase chain reaction and heteroduplexes were formed to test for the presence of the mutation. The predicted C mismatch was readily detectable with hydroxylamine, and by making the probe from the chorionic villus sample it was possible to determine that the fetus was heterozygous, not homozygous, for the mutation.     

Rare non-mosaic trisomies in chorionic villus tissue not confirmed at amniocentesis

This paper reports eight cases of non-mosaic, rare, and typically lethal trisomies diagnosed in chorionic villi and not confirmed by amniocentesis. Four cases were 47,XX, + 16; two cases were 47,XX, +2; one was 47,XX, + 12; and one was 47,XY, +7. There have been no known complications in any of these gestations. These eight cases were found in a series of approximately 12 000 samples processed in our laboratory (0.07 per cent). We conclude that (1) rare non-mosaic trisomy not reflecting the fetal condition is an occasional source of diagnostic ambiguity in chorionic villus sampling; and (2) when encountered, a follow-up amniocentesis should be recommended to the patient to confirm or rule out the abnormality. We propose the term ‘confined placental abnormality’ to describe non-mosaic trisomies and other related abnormalities found only in chorionic tissue.     

Reproductive behaviour and prenatal diagnosis following genetic termination of pregnancy in women of advanced maternal age

One hundred and fifty-one women of advanced maternal age who underwent genetic termination of pregnancy (TOP) were studied for their reproductive behaviour and the type of procedure for prenatal diagnosis in a subsequent pregnancy. A total of 59 women (39 per cent) had a further pregnancy. In all continuing pregnancies prenatal diagnosis was performed, of which 75 per cent consisted of chorionic villus sampling (CVS). Reproductive behaviour following a genetic termination was negatively correlated with maternal age and parity. Both reproductive behaviour and the choice to undergo a diagnostic procedure in the next pregnancy were independent of the type of diagnostic procedure in the previous affected pregnancy.     

Sustainability assessment of a giant bamboo plantation in Brazil: exploring the influence of labour,time and space

Bamboo presents physical and mechanical characteristics, which turn it an alternative option for product development, replacing native or reforested wood. The sustainability assessment of a Dendrocalamus Giganteus species plantation in Brazil through the emergy methodology evidences a great weight of renewable (30% sej/sej) and human labour contributions (33% sej/sej). These contributions account for the great interface with environment and to the intensive work, respectively. The transformity value of bamboo production is 2.42E + 04 sej/J. The influence human labour has on the total emergy flow and on indicators is evaluated by taking into account different country locations (Brazil, Australia and China). Thus, a different transformity value for labour is assumed for each country. A ranking based on emergy sustainability index (ESI) values shows that bamboo production in China was the first placed, followed by Brazil and Australia (values of 1.18, 0.50 and 0.09, respectively). The insertion of indirect renewability embedded in labour results in the ranking modification, leading to plantation in Brazil in the first place, followed by the Australian and Chinese ones. The relative position of the bamboo systems is visualized in the ternary diagram expressed in terms of emergy. In an attempt to explore the relationship between sustainability and time, a graphic of ESI vs. global productivity is discussed in terms of a prospective evaluation. Indirect support areas of the bamboo production are calculated as a way to evaluate the sustainability-space relationship.