Identification of relevant micropollutants in Austrian municipal wastewater and their behaviour during wastewater treatment

The European Union has defined environmental quality standards (EQSs) for surface waters for priority substances and several other pollutants. Furthermore national EQSs for several chemicals are valid in Austria. The study investigated the occurrence of these compounds in municipal wastewater treatment plant (WWTP) effluents. In a first screening of 15 WWTPs relevant substances were identified, which subsequently were monitored in 9 WWTPs over 1 year (every 2 months). Out of 77 substances or groups of substances (including more than 90 substances) 13 were identified as potentially relevant in respect to water pollution and subjected to the monitoring, whereas most other compounds were detected in concentrations far below the respective EQS for surface waters and therefore not further considered. The preselected 13 compounds for monitoring were cadmium (Cd), nickel (Ni), copper (Cu), selenium (Se), zinc (Zn), diuron, polybrominated diphenyl ethers (PBDEs), di(ethyl-hydroxyl)phthalate (DEHP), tributyltin compounds (TBT), nonylphenoles (NP), adsorbable organic halogens (AOX) and the complexing agents ethylenediaminetetraacetic acid (EDTA) as well as nitrilotriacetic acid (NTA). In the effluents of WWTPs the concentrations of the priority substances Cd, NP, TBT and diuron frequently exceeded the respective EQS, whereas the concentrations for DEHP and Ni were below the respective EQS. The effluent concentrations for AOX, EDTA, NTA, Cu, Se and Zn frequently are in the range or above the Austrian EQS for surface waters. Besides diuron and EDTA all compounds are removed at least partially during wastewater treatment and for most substances the removal via the excess sludge is the major removal pathway. For the 13 compounds which were monitored in WWTP effluents population equivalent specific discharges were calculated. Since for many compounds no or only few information is available, these population equivalent specific discharges can be used to assess emissions from municipal WWTPs to surface waters as well as to make a first assessment of the impact of a discharge on surface waters chemical status. Comparing discharges and river pollution on a load basis, the influence of diffuse sources becomes obvious and therefore should also be taken into consideration in river management.     

Extraction of DNA from amniotic fluid cells for the early prenatal diagnosis of genetic disease

Ten-ml samples of amniotic fluid were taken from pregnancies being terminated at 8–14 weeks' gestation. DNA was extracted from the amniotic cells by sequential centrifugation and analysed using the polymerase chain reaction (PCR). Fifteen samples were analysed for evidence of maternal contamination using Mfd5 oligo-nucleotide primers for repeat polymorphisms. Ten amniotic fluid samples were tested for the Delta-F₅₀₈ deletion characteristic of cystic fibrosis to demonstrate a diagnostic application for the technique. In each case, DNA extracted from fetal tissue from the same pregnancy was included in the controls. In 14 of the 15 cases tested with the Mfd5 primers, both the amniotic fluid DNA and the fetal DNA showed no evidence of contaminating DNA. In one case, neither the amniotic fluid cells nor the fetal cells yielded results. In nine of the ten cases tested with the Delta-F₅₀₈ primers, the amniotic fluid cell DNA provided accurate information about the genetic status of the fetus; in the tenth, the fetal DNA failed to amplify. The results indicate that adequate DNA can be extracted from amniotic fluid from 8 weeks' gestation onward and these samples are suitable for prenatal diagnosis using PCR.     

Early amniocentesis at 11–14 weeks' gestation for the diagnosis of fetal chromosomal abnormality—a clinical evaluation

Early arnniocentesis between 11 and 14 weeks' gestation was offered to 110 women at risk of a chromosomally abnormal fetus due to maternal age. Four were found to be unsuitable for the procedure, and 106 early amniocenteses were performed. In 102 cases, clear amniotic fluid was obtained with a single tap. There were two dry taps and two bloodstained tapis; sampling was repeated in three of these cases before 15 weeks. In the fourth case, placental biopsy was performed at 16 weeks. Thus, we were able to obtain a satisfactory sample in all but three cases(2.8 percent). Karyotyping of cells harvested from the early amniotic fluid samples was successful in all the 105 cases. Cell culture from the initial samples revealed a normal karyotype in 99 cases, two balanced translocations, two tetraploid karyotypes, and two cases of pseudomosaicism. Of the 105 pregnancies successfully sampled, there have been two losses to date (1–8 per cent). Two further patients presented with premature rupture of membranes, both pregnancies having successful outcomes. Sixty-two babies have delivered to date, with four congenital anomalies. There were no respiratory problems. Twenty-nine pregnancies are continuing without known complications, and details are not yet available on the remaining 12. The results indicate that early arnniocentesis may replace the traditional test at 15–17 weeks.     

Uncommon chromosomal mosaicism in chorionic villi

Three cases of unusual chromosomal mosaicism are reported for which the cytogenetic data show inconsistent findings between CVS and AC or fetal tissue, and which cannot be explained simply by non-disjunction. For case 1, in CVS the karyotype was 46,XY, whereas lymphocytes and fibroblasts revealed 69,XXY. DNA fingerprinting indicated one paternal and two maternal chromosome sets, the latter most probably due to omission of maternal meiosis II. For case 2, in CVS mos 46,XX/47,XX,+mar de novo was observed. Amniotic fluid cells had the karyotype 46,XX. The origin of the marker chromosome might be explained by at least two events of unknown order (a somatic chromosome/chromatid deletion and non-disjunction of the homologous chromosome). In case 3 (CVS: mos 46,XY/46,XY,19q+ de novo; amniotic fluid cells, lymphocytes, and fibroblasts: 46,XY), the surplus of chromosome material in 19q+ might be explained on the basis of a somatic translocation. The idea of a chimera is less convincing, as the mosaic finding is restricted to one tissue. Furthermore, there was no hint of a vanishing twin. Hitherto, no case of structural chromosome mosaicism in CVS has been reconfirmed in fetal tissues.     

Vitamins,folic acid and neural tube defects: Comments on investigations in the United States

No clear answer concerning whether multivitamin/folate supplementation prevents neural tube defects (NTDs) is provided by three studies in the United States. All these studies are occurrence in nature, no recurrence studies having been conducted. The Atlanta Birth Defects Study is subject to pronounced memory and recall biases, the length between event and interview being as long as 16 years. In a second study (Boston University), objections can be raised to certain aspects of the experimental design, and the claim that 22 per cent of women started vitamins sufficiently early after pregnancy diagnosis to influence NTD formation is suspicious. Our NICHD case control study of 541 women in California and Illinois revealed no evidence for multivitamins or folic acid preventing NTDs. U.S. public policy-makers face difficulties in applying results of recurrence or occurrence studies in high-risk areas to low-risk areas in the U.S.