First-trimester fetal sex determination in maternal serum using real-time PCR

An Erratum has been published for this article in Prenatal Diagnosis 22(13) 2002, 1241. Fetal sex prediction can be achieved using PCR targeted at the SRY gene by analysing cell-free fetal DNA in maternal serum. Unfortunately, the results reported to date show a lack of sensitivity, especially during the first trimester of pregnancy. Therefore, determination of fetal sex by maternal serum analysis could not replace karyotype analysis following chorionic villus sampling. A new highly sensitive real-time PCR was developped to detect an SRY gene sequence in maternal serum. Analysis was performed on 121 pregnant women during the first trimester of pregnancy (mean gestational age: 11.8 weeks). Among them, 51 had at least one previous male-bearing pregnancy. Results were compared with fetal sex. SRY PCR analysis of maternal serum was in complete concordance with fetal sex. Among the 121 pregnant women, 61 were bearing a male fetus and 60 a female fetus. No false-negative results were observed. Furthermore, no false-positive results occurred, even though 27 women carrying a female fetus during the current pregnancy had at least one previous male-bearing pregnancy. This study demonstrates that a reliable, non-invasive sex determination can be achieved by PCR analysis of maternal serum during the first trimester of pregnancy. This non-invasive approach for fetal sex prediction should have great implications in the management of pregnant women who are carriers of an X-linked genetic disorder. Prenatal diagnosis might thus be performed for male fetuses only, avoiding invasive procedures and the risk of the loss of female fetuses. Copyright © 2001 John Wiley & Sons, Ltd.     

Analysis of polycyclic aromatic hydrocarbons (PAHs) in airborne particles by direct sample introduction thermal desorption GC/MS

The technique of thermal desorption (TD)–GC/MS was evaluated for measuring airborne, 4–6 ring polycyclic aromatic hydrocarbons (PAHs) collected onto quartz filters. TD provides a more readily automated and sensitive alternative to traditional solvent extraction, decreasing the time/cost of analysis and reducing the risk of analyte loss or sample contamination. The developed method was successfully applied to the analysis of PAH standard solutions loaded on sorbent tubes packed with quartz wool and the graphitized carbon black sorbent Carbograph2. The optimized method showed high desorption efficiency over the whole range of target PAHs with good precision, linearity and sensitivity. The proposed method was verified on an urban dust Standard Reference Material (SRM 1649a); the experimentally determined concentrations agreed with the certified ranges (95% confidence limit) for all target compounds except benzo[a]anthracene, which fell just outside the narrow certified range. The desorption efficiency and the reproducibility of the method was evaluated by analysing pieces of real sample filters sampled from urban air for a period of 24 h. The results confirmed the homogeneity of the filter and showed high recovery efficiencies for all target PAHs.     

Importance of eating habits and sample size in the estimation of environmental mercury contamination using biological indicators

The importance of eating habits and the number of fish sampled in the estimation of mercury environmental contamination through biological indicators was studied. The species used were one with piscivorous habits (Anguilla anguilla) and another with omnivorous habits (Ciprinus carpio). From one original sample for each species, randomized samples were generated using the subroutine GGSRS from the mathematics library IMSL, and later the statistical significance of Pearson's correlation coefficient for the relationship between fish weight and mercury concentrations in muscle was obtained for each random sample. The results show that the use of omnivorous species such as Ciprinus carpio as a biological indicator of contamination enables us to carry out estimations with a greater degree of confidence than when piscivorous species such as Anguilla anguilla are used.     

Prenatal ultrasound diagnosis of Toriello–Carey syndrome

Toriello–Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome based on the detection of agenesis of the corpus callosum and spongious cardiomyopathy in a 22-week-old fetus of a couple with positive family history. The first sib of the couple was diagnosed with Toriello–Carey syndrome at 1 year of age, and had, in addition to the typical facial anomalies not detectable by ultrasound, agenesis of the corpus callosum and the same heart lesion (spongious cardiomyopathy). This report demonstrates that prenatal diagnosis of Toriello–Carey syndrome is feasible in the second trimester of pregnancy. Copyright © 2002 John Wiley & Sons, Ltd.     

Root penetration through sealing layers at mine deposit sites.

To prevent acid mine drainage arising from oxygen and water penetration of sulphide-rich mine tailings, the tailings are covered with layers of dry sealing material. Plant roots have a great ability to penetrate dense materials, and if the roots are able to penetrate the sealing layer of a tailings deposit, its oxygen-shielding properties could be reduced. The objective of this study was to evaluate whether plant roots are able to penetrate sealing layers covering mine tailings deposits. Root penetration into layers of various sealing materials, such as clayey moraine (clay, 8-10%; silt, 22-37%; sand, 37-55%; gravel, 15-18%), moraine (unspecified), 6-mm bentonite (kaolin clay) fabric, lime and clay, Cefyll (mixture of pulverized coal fly ash, cement and water) and a mixture containing biosludge (30-35%) and bioashes (65-70%), was investigated. In the field, roots were studied by digging trenches alongside vegetation growing in 3- and 10-year-old mine sites. In the greenhouse root growth of Betula pendula, Pinus sylvestris, Poa pratensis and Salix viminalis were studied in compartments where the plants had been growing for 22 months. The results from the field experiment indicated that roots are able to penetrate both deep down in the cover layer (1.7 m) and also into the sealing layers of various materials, and even to penetrate hard Cefyll. The addition of nutrients in the top cover reduced deep root growth and thereby also penetration through the sealing layer. Low hydraulic conductivity of the sealing layer or a thick cover layer had less effect on root penetration. In the greenhouse experiment roots did not penetrate the thin bentonite fabric, due to low pH (2.1-2.7) that was created from the underlying weathered mine tailings. The clayey moraine was penetrated by all species used in the greenhouse experiment; Pinus sylvestris had the greatest ability to penetrate. To prevent root penetration of the other sealing layer, a suitable condition for the plants should be created in the upper part of the cover layer, namely a sufficient amount of plant nutrients. However, to define such a condition is difficult since different plant species have different requirements.     

Assessment of environmental changes in the Orinoco River delta

Major anthropogenic driven changes in the hydrologic and sedimentation patterns of the Orinoco River have had an impact on environmental conditions in the delta. The abrupt water flow reduction from 3,600 to 200 m³ s^–1 in one of its major distributaries resulting from dam construction forced its transformation from a fresh-water body into a tidal channel with an increase in salinity level (as far as 100 km upstream) and with well-mixed water at the mouth and estuarine connection to the Paria Gulf. Three different sectors along this distributary can be identified (indicated by the Na/Cl ratio in the water). As a result, noticeable changes have occurred in the mangrove community which moved about 60 km further upstream. The changes have also promoted the formation of new islands of sediment progradation at the mouth of this distributary, where successional colonization and species replacement by different species of grasses and mangroves take place. Electronic Publication     

Gas chromatographic methods for monitoring of wastewater chlorophenol degradation in anaerobic reactors

Wastewater samples from an anaerobic reactor were extracted with hexane and derivatized with diazomethane (method 1) and with acetic anidride (method 2). Gas chromatography with electron-capture detection (ECD) was employed for separating the parent compound and intermediates trichlorophenols (TCP) and dichlorophenols (DCP) which originated from the penta chlorophenol (PCP) degradation process. The relations between concentrations of PCP, TCP and DCP areas were linear in the range of concentrations of 0.2 to 8 mg/L and 0.025 mg/L to 5 mg/L for methods 1 and 2, respectively. The repeatability of the extraction methods was satisfactory, with variation coefficients lower than 11%. For method 1, at the fortification level of 0.2 mg/L, recovery of PCP, TCP, and DCP was 112%, 74% and 45%, respectively. For method 2, the corresponding recovery values at the fortification level of 0.1 mg/L were 91%, 93% and 103%, respectively. Storage of the frozen samples did not alter their PCP determination properties. The chromatographic methods adapted for chlorophenol determination in wastewater were suitable with relatively simple manipulation techniques. The obtained results were reproducible and allowed identification of intermediates formed during the PCP degradation process.     

Revisiting the plant hyperaccumulation criteria to rare plants and earth abundant elements

The several established criteria to define a hyperaccumulator plant were applied to a rare and endangered species, Plantago almogravensis, and to the 3rd most abundant element in the earth crust, Al. Using the most common criteria, P. almogravensis undoubtedly is an Al hyperaccumulator plant. If the recent proposed requirements were considered, most of them matching those for a plant to be used in phytoextraction, it can only be considered an unusual accumulator of Al. A discussion is made concerning the several criteria of a hyperaccumulator plant in order to include rare and endemic ones and abundant elements. In ecological terms, the enrichment in Al and Fe observed may account for the differences in the vegetation pattern. Due to the rarity and endangered nature of this plant, the contribution of this work is also relevant for the ecological understanding and the development of conservation options of this endemic species.     

Fate of cancerostatic platinum compounds in biological wastewater treatment of hospital effluents

The present work focuses on the fate of two cancerostatic platinum compounds (CPC), cisplatin and carboplatin, as well as of two inorganic platinum compounds, [PtCl₄]²⁻ and [PtCl₆]²⁻ in biological wastewater treatment. Laboratory experiments modelling adsorption of these compounds onto activated sludge showed promising specific adsorption coefficients K_D and K_OC and Freundlich adsorption isotherms. However, the adsorption properties of the investigated substances were differing significantly. Adsorption decreased following the order cisplatin > [PtCl₆]²⁻ > [PtCl₄]²⁻ > carboplatin. Log K_D-values were ranging from 2.5 to 4.3 , log K_OC from 3.0 to 4.7.

A pilot membrane bioreactor system (MBR) was installed in a hospital in Vienna and fed with wastewater from the oncologic in-patient treatment ward to investigate CPC-adsorption in a sewage treatment plant. During three monitoring periods Pt-concentrations were measured in the influent (3–250 μg l⁻¹ Pt) and the effluent (2–150 μg l⁻¹ Pt) of the treatment plant using ICP-MS. The monitoring periods (duration 30 d) revealed elimination efficiencies between 51% and 63% based on averaged weekly input–output budgets. The derived log K_D-values and log K_OC-values ranged from 2.4 to 4.8 and from 2.8 to 5.3, respectively. Species analysis using HPLC-ICP-MS proofed that mainly carboplatin was present as intact drug in the influent and – due to low log K_D – in the effluent of the MBR.