Non-ketotic hyperglycinaemia: Glycine/serine ratio in amniotic fluid–an unreliable method for prenatal diagnosis

We describe a prenatal diagnosis of a fetus at risk for non-ketotic hyperglycinaemia based on the glycine/serine ratio in amniotic fluid at 16 weeks of gestation. Although the glycine level and the glycine/serine ratio in amniotic fluid were within the normal range, the fetus was affected and therefore a false-negative prediction was made. The reliability of this method is questioned.     

The impact of prenatal diagnosis on the occurrence of chromosome abnormalities

From the public health point of view, several formal attempts have been made to measure the impact of prenatal diagnosis (PND) on the incidence of Down's Syndrome (DS), but the results have varied widely. The impact of PND (reduction in the birth rate of chromosomally abnormal neonates) is related to utilization rates but quantitative estimates of this have not been established. In a three-year (1981–1983) total population study from Queensland, Australia, we present results to measure the impact of a voluntary PND programme on the birth incidence of DS, and also other chromosomally abnormal births. Utilization rates for the PND service were 15·5 per cent in that population of mothers 35 years and over. Numbers and rates of all cases of chromosomal abnormalities are presented, subclassified by type of diagnosis–-either by PND or by clinical diagnosis after birth. For the total population, 7·3 per cent of cases of DS were detected prenatally, and 15·4 per cent of all chromosome abnormalities. (A method for measuring the impact of PND is described.) Using this in conjunction with our demographic data, we estimate that with a 15 per cent utilization rate of PND by older mothers, 14 per cent of DS births can be prevented in this age group, or a 5 per cent overall reduction can be achieved if mothers of all ages are considered. One index–-the ratio of the percentage of DS births which are preventable compared with the population utilization rates of PND–-has potential for widespread use. Queensland data for this ratio is 0·34, a figure consistent with that from other studies. Thus a 3·5 per cent drop in the overall DS birth rate may be expected for each 10 per cent increase in the utilization rates of PND for mothers of 35 years and over. A diagram is presented which may serve as a model for improved data collection and better impact estimates in the future.     

Ontogenetic data and the evolutionary origin of the mammalian scapula

One of the most useful diagnostic therian features is the division of the lateral surface of the scapula into two fossae separated by a scapular spine. A new model to describe this evolutionary innovation based on ontogenetic data is provided, consistent with information provided by recent fossil discoveries. The development of the scapula in three didelphid and one dasyurid marsupials using histological sections was studied. Only the ventral, acromial portion of the scapular spine, which originates from the anterior margin of the scapular blade, is preformed in cartilage. The major dorsal portion is formed at a later stage by appositional bone, which expands from the perichondral ossification of the scapula into an intermuscular aponeurosis between the supra-and infraspinatus muscles. This intermuscular aponeurosis inserts more or less in the middle of the lateral surface of the developing scapula. Thus, the floor of the supraspinous fossa is already present at the beginning of scapular development, simultaneous with the infraspinous fossa. The portion of the scapular spine that is situated dorsal to the acromial process is hypothesized to be a neomorphic structure of therians. The dorsal portion of the scapular spine evolved as additional attachment for powerful supraspinatus and infraspinatus muscles meeting near the middle of the lateral scapula.     

Oviposition strategies of conifer seed chalcids in relation to host phenology

Insects are considered the most important predators of seed cones, the female reproductive structures of conifers, prior to seed dispersal. Slightly more than 100 genera of insects are known to parasitize conifer seed cones. The most diverse (i.e., number of species) of these genera is Megastigmus (Hymenoptera: Torymidae), which comprises many important seed pests of native and exotic conifers. Seed chalcids, Megastigmus spp., lay eggs inside the developing ovules of host conifers and, until recently, oviposition was believed to occur only in fertilized ovules. Ovule development begins just after pollination, but stops if cells are not fertilized. The morphological stage of cone development at the time of oviposition by seed chalcids has been established for many species; however, knowledge of ovule development at that time has been documented for only one species, M. spermotrophus. Megastigmus spermotrophus oviposits in Douglas-fir ovules after pollination but before fertilization. Unlike the unfertilized ovules, those containing a M. spermotrophus larva continue to develop, whether fertilized or not, stressing the need to broaden our understanding of the insect–plant interactions for this entire genus. To achieve this task, we reviewed the scientific literature and assembled information pertaining to the timing of oviposition and to the pollination and fertilization periods of their respective host(s). More specifically, we were searching for circumstantial evidence that other species of Megastigmus associated with conifers could behave (i.e., oviposit before ovule fertilization) and impact on female gametophyte (i.e., prevent abortion) like M. spermotrophus. The evidence from our compilation suggests that seed chalcids infesting Pinaceae may also oviposit before ovule fertilization, just like M. spermotrophus, whereas those infesting Cupressaceae seemingly oviposit after ovule fertilization. Based on this evidence, we hypothesize that all species of Megastigmus associated with Pinaceae can oviposit in unfertilized ovules, whereas those exploiting Cupressaceae cannot, and thus oviposit only in already fully developed fertilized seeds. Furthermore, we predict that the presence of a larva in unfertilized ovules of all Pinaceae will influence the development of the female gametophyte by preventing its abortion. This influence on the Pinaceae can be interpreted as an ability to parasitize any of the potential seeds present in a seed cone, and as such represents a much more efficient oviposition strategy than searching and locating only fertilized seeds. Concomitantly, this ability has likely led to an overestimation of the impact of the species of seed chalcid infesting Pinaceae on seed production.