Trace elements and organochlorines in the shoalgrass community of the lower Laguna Madre,Texas

Our objectives were to measure concentrations of seven trace elements and 14 organochlorine compounds in sediment and biota of the shoalgrass (Halodule wrightii) community of the lower Laguna Madre of south Texas and to determine whether chemicals associated with agriculture (e.g. mercury, arsenic, selenium, organochlorine pesticides) were highest near agricultural drainages. Arsenic, mercury, selenium, lead, cadmium, and organochlorines were generally at background concentrations throughout the lower Laguna Madre. Nickel and chromium concentrations were exceptionally high in shrimp and pinfish (Lagodon rhomboides), which is difficult to explain because of no known anthropogenic sources for these trace elements. For sediment and blue crabs (Callinectes sapidus), mercury was highest near agricultural drainages. Also, DDE was more frequently detected in blue crabs near agricultural drainages than farther away. In contrast, selenium concentrations did not differ among collecting sites and arsenic concentrations were lowest in shoalgrass, blue crabs, and brown shrimp (Penaeus aztecus) near agricultural drainages.     

Temporal and biogeographic comparisons of PCBs and persistent organochlorine pollutants in the blubber of fin whales from eastern Canada in 1971-1991

Concentrations of PCB congeners and organochlorine (OC) pesticides were studied in archived fin whale (Balaenoptera physalus) blubber samples collected in 1971-1972 from Newfoundland (Nfld) and Nova Scotia (NS) with the objective of obtaining a historical perspective on contaminant levels and proportions at a time when many persistent OCs were still in use. Concentrations of sigmaPCBs and sigmaDDTs in the blubber of 17 fin whales from historical whaling stations in 1971-1972 were generally in agreement with previously reported values for fin whales from Atlantic Canada. Although some differences in sex and body length (age) distribution of samples occurred, significant differences were detected in the concentrations and patterns of PCBs, DDTs and chlordanes in whales from Nfld and NS, supporting ecological evidence that whales from these regions represent relatively separate stocks. Temporal and geographical variations were examined by comparing data to those reported for fin whales from the St Lawrence Estuary (StL) in 1991 by Gauthier et al. (1997a). Significantly higher levels of sigmaDDT, sigmaCHL and HCB were found in the NS (1971-1972) stock compared with the StL (1991) animals, and in HCB between the Nfld stock (1971-1972) and the StL (1991) animals, as well as higher p,p'-DDE/sigmaDDT and lower p,p'-DDT/sigmaDDT ratios in the 1991 whales suggesting that temporal trends in these whales between the 1970s and 1990s were consistent with those in other marine mammals in Atlantic Canada. Evidence also suggests that geographical variations in patterns may occur for individuals from two relatively distinct stocks of fin whales in Atlantic Canada (NS, Nfld) and perhaps for one population (StL) related to, but recognisably different from the NS stock.     

Conflict resolution by participatory management: remote sensing and GIS as tools for communicating land-use needs for reindeer herding in northern Sweden

When seeking to resolve complex land-management issues, geographical assessment of resources that are in short supply or in dispute can aid the communication of knowledge and the understanding among and between different stakeholders. In this paper, we illustrate how remote sensing and GIS can be used to gather and compile information regarding land-use activities and patterns among reindeer herders and other land users (forestry, mining, tourism, etc) in northern Sweden. The project represents a novel user-oriented effort largely based on the work carried out by the principal end user, i.e. the reindeer herders themselves. The basis for development of land-use plans for reindeer husbandry, was the following: to collect and digitally systemize traditional ecological and landscape knowledge of reindeer habitat use; to integrate this information with results from field inventories and satellite-based vegetation classifications; to map activities of other land users. The resulting land-use plans provide information that can facilitate consultation between the reindeer herders and other stakeholders and can facilitate operational work in reindeer management. This project can serve as a model for participatory involvement and planning, bringing indigenous knowledge and advanced remote-sensing techniques together in an interactive process.     

Prenatal diagnosis of smith–lemli–opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid

Amniocentesis was performed at 17.3 weeks in a pregnancy with severe intrauterine growth retardation. Cytogenetic studies on amniocytes were normal, 46,XX, and the pregnancy was continued. The diagnosis of Smith–Lemli–Opitz syndrome was suspected in the neonatal period and confirmed by the presence of 7-dehydrocholesterol (7-DHC) in the plasma (0.4 mmol/l, normal = not detectable) associated with a low total cholesterol concentration (0.4 mmol/l, normal = 2.56 ± 0.23). Retrospective analysis of the amniotic fluid sample revealed an elevated level of 7-DHC (0.022 mmol/l; normal = undetectable). Therefore measurement of 7-DHC levels in amniotic fluid during the second trimester of pregnancy is useful for the prenatal diagnosis of Smith–Lemli–Opitz syndrome in families at risk and should be considered in cases of severe growth retardation of unknown aetiology for which amniotic fluid is available and in which a normal chromosomal pattern in amniocytes is present.     

First-trimester aneuploidy screening using serum human chorionic gonadotropin (hCG), free ahCG,and progesterone

Immunochemical serum assays for human chorionic gonadotropin (hCG), the free ohCG subunit, and progesterone (P) were considered separately and in combination for their ability to screen for chromosomally abnormal pregnancies in the first trimester. Maternal serum was collected from 141 women undergoing chorionic villus sampling at 9–12 menstrual weeks. Trisomy 21 pregnancies had significantly higher hCG levels, while trisomy 18 and 13 pregnancies had markedly lower hCG and progesterone levels than those of chromosomally normal pregnancies. However, the discrimination of normal from aneuploid pregnancies was poor with either hCG alone, progesterone alone, or free ahCG alone. Much improved discrimination was obtained by combining hCG, free ahCG, and P into an aneuploidy index [(P/hCG)(free ahCG/hCG)]. This index distinguished 9 out of 17 (53 per cent) of the trisomy 21 pregnancies, while only misidentifying 5 out of 112 (4.5 per cent) of the normal pregnancies. The aneuploidy index thus appears promising as a first-trimester biochemical screen for aneuploid pregnancies.     

Human chorionic gonadotropin levels in pregnancies with aneuploid fetuses

Maternal serum human chorionic gonadotropin (hCG) and the free alpha-hCG subunit were evaluated in 249 women from 9 to 11 weeks gestation who subsequently underwent chorionic villus sampling for determination of fetal karyotype and in 20 women of 18 or more weeks gestation who were ascertained to have an aneuploid fetus by genetic amniocentesis. Seven of the first-trimester pregnancies were determined to be aneuploid and six had hCG levels in the normal range (one triploid pregnancy had elevated hCG levels) whereas 12 of the 20 secondtrimester cases had abnormal hCG levels and an additional three had elevated levels of alpha-hCG. This study confirms the previous report of abnormal maternal serum hCG levels in women with an aneuploid fetus at ≥ 18 weeks gestation and demonstrates that hCG evaluation is not useful at 9–11 weeks gestation for selecting pregnancies at risk for fetal aneuploidy.     

Molecular prenatal diagnosis of 3-hydroxy−3-methylglutaryl coa lyase deficiency

We report the first molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. The proband had a classic but severe presentation with hypoketotic hypoglycaemia and acidosis, secondary mental retardation, and epilepsy, and HL deficiency was documented in cultured fibroblasts. We found him to be homozygous for the frameshift mutation N46fs (+1), which yields a distinct pattern on single-strand conformation polymorphism (SSCP) analysis. In two subsequent pregnancies, molecular prenatal diagnosis was performed using SSCP. In the first, chorionic villus biopsy was normal. In the second pregnancy, amniocentesis revealed an affected fetus. In both pregnancies, the diagnosis was confirmed enzymatically. HL activity was less than 7 per cent of control values in amniocytes and fetal liver of the affected pregnancy. In the second pregnancy, amniotic fluid metabolite measurements by stable isotope dilution-selected ion monitoring mass spectrometry showed greater than 100-fold increases of 3-hydroxy-3-methylglutaric acid and of 3-methylglutaconic acid levels compared with controls.     

Changes in maternal serum alpha-fetoprotein levels associated with intrauterine genetic diagnostic procedures

The amount of fetal—maternal transfusion during invasive intrauterine diagnostic instrumentation was determined by measuring the increase in maternal serum alpha-fetoprotein (Δ AFP) caused by the procedure. Fetal liver biopsy or fetoscopy for purposes other than blood sampling caused a mean Δ AFP of 11.4 ng/ml and 34.2 ng/ml, respectively. Fetoscopy with fetal blood sampling produced a mean Δ AFP of 211.8 ng/ml, while fetoscopy followed by placentesis caused a mean Δ AFP of 462.8 ng/ml (representing a 1.07 ml fetal—maternal transfusion). Although this magnitude of fetal—maternal transfusion is an acceptable risk for the fetus, it is a sufficient transfusion to cause blood cell antigen sensitization.     

Prenatal diagnosis of fetal anomalies during the second trimester of pregnancy: Their characterization and delineation of defects in pregnancies at risk

During a follow-up study of 19 790 pregnancies at risk for a genetic disease, from 1968 to 1989, 1083 fetuses were found to have an anomaly during the second trimester, leading to 977 terminations of pregnancy. Neural tube defects (31.4 per cent), chromosomal disorders (27.1 per cent), and Mendelian or multifactorial diseases (10.6 per cent) were the main causes of fetal anomaly. More than half (52.9 per cent) of the fetal anomalies were detected by routine ultrasound examination. Forty-two per cent of cystic hygromas were secondary to a chromosomal defect. We stress the importance of a comprehensive fetal and newborn examination to ensure an accurate diagnosis so that subsequently accurate counselling can be provided.