First-trimester prenatal diagnosis in quintuplets: A practical approach using step-by-step embryo reduction

A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote arid (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the number of zygotes led us to propose a diagnostic strategy based on embryo reduction, a technique initially designed to improve the perinatal outcome of multiple pregnancies with normal embryos. We report a case in which this approach allowed rational use of first-trimester chorionic villus sampling in a quintuplet pregnancy at risk for non-ketotic hyperglycinaemia, resulting in the selective birth of unaffected twins.     

Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of sylvius sequence using closely linked DNA markers

X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence (H-SAS, MIM number 307 000) is a rare genetic disorder characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, mental retardation, and cerebral malformations. This regularly lethal condition is usually diagnosed at birth or prenatally by ultrasound, but hydrocephalus may be moderate or even undetectable on fetal ultrasound examination. Moreover, since heterozygous women are asymptomatic, carrier detection is at present impossible before the birth of an affected son. Therefore, mapping the H-SAS locus to distal Xq (Xq28) was of primary importance for genetic counselling and prenatal diagnosis. Here, we report prenatal exclusion of H-SAS with a probability of 97.6 per cent in two male fetuses with a 50 per cent a priori risk of being affected using closely linked Xq28 DNA markers.     

Gorlin syndrome presenting as prenatal chylothorax in a girl

Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant condition with an estimated prevalence of 1:57 000. GS is associated with congenital malformations and predisposition to neoplasms. The main features observed in patients with GS are basal cell carcinomas, odontogenic keratocysts, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar epidermal cysts, facial dysmorphism, and cerebral falx calcification. More than 100 other clinical manifestations have also been described in the literature including ovarian fibroma, enlarged cerebral ventricles, and lymphatic as well as chylous mesenteric cysts. The Patched (PTCH) gene is responsible for GS when mutated. Here, we report on a prenatal diagnosis of GS in a girl with a chylothorax, a previously unreported feature in GS. We discuss the clinical features observed in this family and we comment on the molecular studies that allowed us to describe a previously unreported Patched gene mutation. Copyright © 2005 John Wiley & Sons, Ltd.     

Combinatory chemical and biological approaches to investigate metal elements in agricultural runoff water

As part of a project studying the interactions between farming practices, soil erosion processes, and fate of agricultural pollutants into runoff waters, we conducted a pilot study to investigate the relationship between metal contents and metallothionein-2A (MT-2A) as a bioindicator of metal exposure. Runoff water samples were collected between May and November 1999 at the point of outlet of an elementary watershed located in the Paris basin. Selected metals (Al, As, Cd, Cr, Cu, Pb, Hg, Ni, and Zn) were analyzed using conventional techniques. In parallel, human T cells were exposed to water samples for 6 and 18 h and then cell viability and MT-2A gene expression were measured. Results show that among the 10 water samples tested, Al and Zn predominate (highest values = 4.9 and 2.6 microM, respectively), while other metals were below the microM level. Five out of 10 samples induced MT-2A gene expression (30-80% increase at 18 h) as compared with the control. When comparing MT-2A induction profile with metals contents, no obvious correlation was found, suggesting that additional components or parameters are involved. Finally, there was an apparent inverse relationship between Ca concentration and MT-2A gene induction. Although still preliminary, in the absence of longer monitoring, this study shows that MT-2A gene expression is a useful tool to complement chemical analysis in assessing metal elements in water. These combinatory approaches will be pursued and integrated in an ongoing watershed field research project.     

Nutrient transfer by runoff from sewage sludge amended soil under simulated rainfall

Wastewater sludges are used in agriculture as soil amendment and fertilizer, with regard to their organic matter and nutrient content. However, availability of nitrogen and phosphorus from sludge-amended soils and their transfer in runoff may lead to eutrophication of downstream surface water. The aim of this study is to establish and compare the effect of two different sludges on these transfers: an anaerobically digested and thermically stabilised sludge (Seine-Aval treatment plant, sludge no. 1), and a limed sludge (Saint-Quentin treatment plant, sludge no. 2). Experiments were performed on 12 sloping micro-plots (1 m × 1 m) submitted to sludge spreading and controlled rainfall simulation. Runoff water was sampled and analysed for concentrations in nitrogen species and phosphorus. Results show that spreading of sludge no. 1 increased both ammonium nitrogen (mean of 1.1 mg L^–1 N-NH₄ vs. 0.2 mg L^–1 N-NH₄ for control micro-plots) and particulate phosphorus concentrations (mean of 2 mg L^–1 P vs. 1.1 mg L^–1 P for control micro-plots) in runoff water. On the other hand, sludge no. 2 did not induce any significant effect on nutrient concentrations in runoff. These results are related to chemical composition and physical treatment of sludges. This study underlines the existence of a short-term risk of nutrient mobilisation by runoff after sludge spreading on soil, and the need to check precisely the impact of this practice on water quality.     

Towards a multidisciplinary and integrated strategy in the assessment of adverse health effects related to air pollution: the case study of Cracow (Poland) and asthma

Complex interaction between anthropogenic activities, air quality and human health in urban areas, such as in Cracow sustains the need for the development of an interdisciplinary and integrated risk-assessment methodology. In such purpose, we propose a pilot study performed on asthmatics and based on a combined use of a biomarker, such as metallothionein 2A (MT-2A) in the characterization of human exposure to one or a mixture of pollutants and of Geographical Information Systems (G.I.S.) which integrates climatic and urban anthropogenic parameters in the assessment of spatio-temporal dispersion of air pollutants. Considering global incidence of air pollution on asthma and on peripheral blood lymphocytes MT-2A expression should provide a complementary information on biological risks linked to urban anthropogenic activities. Such study would help for the establishment of a sustainable development in urban areas that can maintain the integrity of air quality and preserve human health.     

Stable isotopes (δ13C, δ15N) and modelling as tools to estimate the trophic ecology of cultivated oysters in two contrasting environments

Food sources for cultivated marine bivalves generally are not well identified, although they are essential for a better understanding of coastal ecosystems and for the sustainability of shellfish farming activities. In addition to phytoplankton, other organic matter sources (OMS), such as microphytobenthos and detritus (of terrestrial or marine origins), can contribute significantly to the growth of marine bivalves. The aim of this study was to identify the potential food sources and to estimate their contributions to the growth of the Pacific oyster (Crassostrea gigas) in two contrasting trophic environments of Normandy (France): the Baie des Veys (BDV) and the Lingreville area (LIN). Two sites were studied in the BDV area (BDV-S and BDV-N) and one in the LIN area. To estimate the contribution of each type of OMS, we used a combination of stable natural isotope composition (δ¹³C, δ¹⁵N) analysis of OMS and oyster tissue together with a modelling exercise. Field sampling was conducted every 2 months over 1 year. The sampled sources were suspended particulate organic matter from marine (PhyOM) and terrestrial (TOM) origins, microphytobenthos (MPB), detrital organic matter from the superficial sediment (SOM), and macroalgae (Ulva sp., ULV). A statistical mixing model coupled to a bioenergetic model was used to calculate the contributions of each different source at different seasons. Results showed that isotopic composition of the animal flesh varied with respect to the potential OMS over the year within each ecosystem. Significant differences were also observed among the three locations. For instance, the δ¹³C and δ¹⁵N values of the oysters ranged from −20.0 to −19.1‰ and from 6.9 to 10.8‰ at BDV-S, from −19.4 to −18.1‰ and from 6.4 to 10.0‰ at BDV-N, and from −21.8 to −19.4‰ and from 6.3 to 8.3‰ at LIN. The contributions of the different sources to oyster growth differed depending on the ecosystem and on the period of the year. Phytoplankton (PhyOM) predominated as the principal food source for oysters (particularly in the LIN location). MPB, TOM, and ULV detritus also possibly contributed to oysters’ diet during summer and autumn at the BDV-S and BDV-N sites. SOM was not considered an OMS because it was already a mix of the other four OMS, but rather a trophic reservoir that potentially mirrored the trophic functioning of marine ecosystems.