Prenatal diagnosis of mosaic 4p – in a fetus with trisomy 21

Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21.     

Prenatal diagnosis of herlitz junctional epidermolysis bullosa by amniocentesis

Herlitz junctional epidermolysis bullosa (HJEB) is a severe blistering disorder which usually results in death during infancy. We have previously shown that the anchoring filament protein laminin-5 (kalinin/nicein), which mediates keratinocyte attachment and dermal–epidermal cohesion, is abnormally expressed in individuals with HJEB. Laminin-5 was detected by Western blot analysis in amniotic fluid from 44 consecutive normal secondtrimester control pregnancies, but was undetectable in second-trimester amniotic fluid from four pregnancies with fetuses affected by HJEB. In one case of severe non-Herlitz JEB, laminin-5 was detected in both amniotic fluid and skin. In human amniotic fluid, the laminin-5 a3 subunit was processed to a major 165 kD species and a minor 145 kD species and the β2 subunit was partially processed to 105 kD. Although laminin-5 was covalently associated with laminin-6 (K-laminin) in amniotic membrane, no covalent interaction was detected in amniotic fluid. Laminin-5 from amniotic fluid strongly supported keratinocyte attachment. These results suggest that Western blot analysis of second-trimester amniotic fluid is useful in determining the prenatal diagnosis of HJEB and that laminin-5 may serve a physiologically important function in amniotic fluid.     

Prenatal exclusion of stickler syndrome

Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3·91 at θ=0). In a family in which the father and one of his daughters were severely affected, DNA analysis from a chorionic villus sample demonstrated that the fetus possessed the normal allele of COL2A1. Thereafter a normal child was born.     

Activities of alkaline phosphatase in first trimester chorion biopsy tissue

We have determined the activity of alkaline phosphatase in chorionic villous tissue obtained in the first trimester of pregnancy, in order to obtain the normal range of values as a prerequisite for application to the prenatal diagnosis of the rare bone disease hypophosphatasia. The activities found were a combination of intestinal and liver/bone/kidney types; traces of placental type were present in only one sample.     

Mitigation and Adaptation Strategies for Global Change Editorial Policy Update

Mitigation and Adaptation Strategies for Global Change -     

Mitigation and Adaptation Strategies for Global Change

Mitigation and Adaptation Strategies for Global Change -     

Fisheries management: integrating societal preference, decision analysis, and ecological risk assessment

Fisheries management is the practice of analyzing and selecting options to maintain or alter the structure, dynamics, and interaction of habitat, aquatic biota, and man to achieve human goals and objectives. The theory of fisheries management is: managers or decision makers attempt to maximize renewable `output' from an aquatic resource by choosing from among a set of decision options and applying a set of actions that generate an array of outputs. Outputs may be defined as a tangible catch, a fishing experience, an existence value, or anything else produced or supported by renewable aquatic resources. Overall output is always a mix of tangible and intangible elements. However defined, management goals and objectives are essential components of fisheries management or any other field of renewable natural resource management. Reaching consensus on management goals and objectives has never been a simple task. Beyond the broad and often conflicting goals of an agency, managers must decide who should set specific management objectives — agency personnel, the public, or a combination of the two. Historically, rhetoric aside, fisheries managers in North America nearly always have consulted with professionals in governmental roles to set management objectives. In a strongly pluralistic society, this often resulted in protracted political and legal conflict. Increasingly, there are calls for use of risk assessment to help solve such ecological policy and management problems commonly encountered in fisheries management. The basic concepts of ecological risk assessment may be simple, but the jargon and details are not. Risk assessment (and similar analytical tools) is a concept that has evoked strong reactions whenever it has been used. In spite of the difficulties of defining problems and setting management objectives for complex ecological policy questions, use of risk assessment to help solve ecological problems is widely supported. Ecological risk assessment will be most useful (and objective) in political deliberations when the policy debate revolves around largely technical concerns. To the extent that risk assessment forces policy debate and disagreement toward fundamental differences rather than superficial ones, it will be useful in decision making.     

Prenatal diagnosis of a de novo unbalanced translocation (4p + ) following in vitro fertilization

We report herein a de novo unbalanced chromosome translocation in a fetus resulting from in vitro fertilization technology. Prenatal diagnostic analysis of an amniotic fluid revealed a 46,XX,4p+ karyotype. The origin of the extra material on the short arm of chromosome 4 could not be identified by a variety of banding techniques. However, examination of fetal parts did reveal some dysmorphic features.