Transboundary conservation: An ecoregional approach to protect neotropical migratory birds in South America

Future conservation efforts will need to transcend geopolitical boundaries in efforts to protect entire landscapes and ecosystems. Neotropical migratory birds are as a group a useful conservation tool for linking diverse landscapes and people due to their dependence on multiple habitats, sensitivity to habitat changes, and universal public appeal. The conservation of neotropical migrants can therefore function as a powerful hemispheric umbrella for ecosystem protection. Efforts to protect neotropical migratory birds on their nonbreeding grounds have traditionally been focused on Mexico, Central America, and the Caribbean. To assess the importance of South America to neotropical migrants, an ecoregional classification system was used to determine species distributions in the Andean/Southern Cone Region (Bolivia, Colombia, Ecuador, Paraguay, Peru, and Venezuela). The occurrence of migrants in protected areas that are part of The Nature Conservancy's Parks in Peril program was also assessed. Of the 406 neotropical migrant species, nearly one third (132) occur as regular nonbreeding residents in the region and for almost half of these species (53), South America is their main nonbreeding ground. All Parks in Peril sites were found to harbor neotropical migrants. Forty-eight species (36%) have declining longterm North American Breeding Bird Survey population trends and/or high Partners in Flight concern scores and thus are of significant conservation concern. Most importantly, 29 species (22%) of conservation concern use South America as their primary nonbreeding ground, indicating a need for focused conservation action. The nature of the ecoregional approach used in this endeavor makes future prioritization of ecoregions and conservation strategies for neotropical migrants across national boundaries possible. The ability to link diverse landscapes using a common element such as migratory birds allows for unique transboundary partnerships and opportunities for habitat conservation, which support the goal of the Conservancy's new Migratory Bird Initiative.     

Prenatal diagnosis,fetal pathology and cytogenetic analysis of A 46,XX/47,XX, + 15 mosaic

Mosaic trisomy 15 was prenatally diagnosed on amniotic fluid cells from two consecutive amniocenteses and was confirmed on cells from five different fetal tissues. The proportion of normal versus trisomic cells was consistently higher in the amniotic cell cultures and-with one exception-in the fetal tissues, while serial subcultures gave different results. The slightly atypical external features and internal malformations of the affected fetus as compared to the only clinical observation from the literature are not unusual enough to allow the delineation of a specific malformation pattern.     

Prenatal analysis of the insulin receptor gene in a family with leprechaunism

Leprechaunism is an autosomal recessive disease characterized by intrauterine and postnatal growth restriction, loss of glucose homeostasis, and severe insulin resistance. This disease is caused by a failure of function of the insulin receptor and is lethal early in life. Here we report the prenatal diagnosis of leprechaunism in one consanguineous family, Atl-1, in which two homozygous-affected siblings died with leprechaunism. The mutation in their insulin receptor impaired insulin binding and altered receptor signalling. Prenatal diagnosis could not be accomplished using insulin binding to cultured amniocytes, but was possible using mutational analysis of the insulin receptor gene in DNA from amniotic cells.     

Problems in prenatal diagnosis of β-thalassaemia by fetal blood analysis: β-chain variant comigrating with gamma chains

This report describes a couple at risk for β thalassaemia in which one spouse was heterozygous for classical high Hb A2 β-thalassaemia while the other had the compound heterozygous state for β⁺-thalassaemia and a β-chain variant. This variant comigrates on carboxymethyl-cellulose columns (CMC) with γ-chains, indicating that globin separation on CMC columns could not have been used for fetal diagnosis. The β-chain variant migrates separately from the other globin chains on HPLC and the respective abnormal haemoglobin can be separated by isoelectrofocusing. Oligonucleotide hybridization showed that both parents were carriers of the β⁺ IVS-1, nt 6 mutation. Prenatal diagnosis was successfully accomplished by oligo-nucleotide analysis on trophoblast DNA. This case indicates that an Antenatal Service should have alternative methods to CMC columns so as to carry out prenatal diagnosis of β-thalassaemia in uncommon cases.     

First trimester diagnosis of β-thalassaemia in a twin pregnancy

This paper reports the results of first trimester prenatal diagnosis in a twin pregnancy at risk for homozygous β°−thalassaemia (β°−39 mutant). Trophoblast samples from both twins were obtained at 10 weeks gestation with a forceps guided by ultrasound. Trophoblast DNA analysis, carried out with the oligonucleotide technique, revealed that one fetus was homozygous and the other heterozygous for the β−39 mutant. This diagnosis was confirmed at 17 weeks gestation by amniocyte DNA analysis. DNA polymorphism analysis within the α-globin gene provided useful genetic markers for twin differentiation.