False-negative prenatal exclusion of Wiskott-Aldrich syndrome by measurement of fetal platelet count and size

The study of the fetal platelet count and size can, according to the literature, be used for the prenatal diagnosis of the Wiskott-Aldrich syndrome (WAS). So far, no affected fetuses have been identified by this method. All pregnancies in which this method had been applied to resulted, as correctly predicted, in the birth of normal children. Here we report on a familial case of WAS where the haematological parameters failed to reveal the affected second child. Hence we assume that the platelet count and size of platelets remain normal in fetuses with WAS to the gestational age of 22 weeks and cannot be used for prenatal diagnosis.     

Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,xxy male heterozygous for a missense point mutation

Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II.     

Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies

Currently, accepted protocol which has been developed at the Prenatal Diagnosis Laboratory of New York City (PDL) requires that when a chromosome abnormality is found in one or more cells in one flask, another 20–40 cells must be examined from one or two additional flasks. Chromosome mosaicism is diagnosed only when an identical abnormality is detected in cells from two or more flasks. In a recent PDL series of 12 000 cases studied according to this protocol, we diagnosed 801 cases (6.68 per cent) of single-cell pseudomosaicism (SCPM), 126 cases (1.05 per cent) of multiple-cell pseudomosaicism (MCPM), and 24 cases (0.2 per cent) of true mosaicism. Pseudomosaicism (PM) involving a structural abnormality was a frequent finding (2/3 of SCPM and 3/5 of MCPM), with an unbalanced structural abnormality in 55 per cent of SCPM and 24 per cent of MCPM. We also reviewed all true mosaic cases (a total of 50) diagnosed in the first 22000 PDL cases. Of these 50 cases, 23 were sex chromosome mosaics and 27 had autosomal mosaicism; 48 cases had numerical abnormalities and two had structural abnormalities. Twenty-five cases of mosaicism were diagnosed in the first 20 cells from two flasks, i.e., without additional work-up, whereas the other 25 cases required extensive work-up to establish a diagnosis (12 needed additional cell counts from the initial two culture flasks; 13 required harvesting a third flask for cell analysis). Our data plus review of other available data led us to conclude that rigorous efforts to diagnose true mosaicism have little impact in many instances, and therefore are not cost-effective. On the basis of all available data, a work-up for potential mosaicism involving a sex chromosome aneuploidy or structural abnormality should have less priority than a work-up for a common viable autosomal trisomy. We recommend revised guidelines for dealing with (1) a numerical versus a structural abnormality and (2) an autosomal versus a sex chromosome numerical aneuploidy. Emphasis should be placed on autosomes known to be associated with phenotypic abnormalities. These new guidelines, which cover both flask and in situ methods, should result in more effective prenatal cytogenetic diagnosis and reduced patient anxiety.     

Polyzyklische aromatische Kohlenwasserstoffe aus diffusen Quellen

Goal and Scope

Polycyclic aromatic hydrocarbons (PAHs) are one group of persistent organic pollutants which are ubiquitous distributed in soils, even in rural areas. After their release into the atmosphere, transportation and deposition, they tend to accumulate in topsoils and sediments. Similar distribution pattern of PAHs in atmospheric deposition, soil samples as well as sediment samples indicate a close relationship between atmospheric input and accumulation of PAHs in the terrestrial environment. The intention of this paper was to estimate the time when precautionary values of the German law of soil protection will be exceeded in rural areas. Furthermore, current soil concentrations will be linked to the historical record of PAHs by means of enrichment factors.

Methods

The historical record of the atmospheric deposition rates of PAHs can be obtained from investigation of sediment cores. Based thereon, enrichment factors of PAHs in the environment were calculated. With these enrichment factors it was possible to estimate the recent PAH concentration in soils in rural areas from currently measured annual deposition rates. Furthermore, concentrations of PAHs in soils and deposition rates can be used to calculate the time when precautionary values will be reached.

Results and Conclusion

PAH deposition rates have been decreasing since about 1960 by a factor of 2–3, but stabilized during the last decade on a level high above pre-industrial time. Thus, further enrichment of PAH in topsoils has to be expected. Actual deposition rates in connection with historical enrichment factors allow to determine the median concentrations of PAHs in rural soils. The time when precautionary values will be reached was calculated to about 300 Years.

Outlook

The database to predict the further development of atmospheric deposition rates is very weak. There was a lack of validated methods concerning direct measurements of atmospheric POP deposition. Meanwhile, a national draft of a standard base on time-integrated passive sampling exists. This method can be implemented to establish a combined soil and deposition-monitoring program in order to assess the risk of further accumulation of POPs in soils.