Preimplantation diagnosis: A patient perspective

A new dimension in the prevention of birth defects will be achieved when genetic diseases can be routinely diagnosed in embryos prior to implantation. The impressions and attitudes towards preimplantation diagnosis were studied in prospective patients, women at high reproductive risk for a genetic disease. Their perspective highlighted not only the advantages and disadvantages of this new approach, but also those changes necessary in order for preimplantation diagnosis to become a useful and practical technique. The data presented are based on information obtained by a mailed questionnaire answered by 58 women. The main benefit of preimplantation diagnosis for these high-risk women would be the ability to undertake a pregnancy without having to be subjected to the physical and/or emotional trauma of elective termination. Their major concerns related to possible damage to the embryo following biopsy, the cost of the procedure, and the low success rate of completed pregnancies. Other issues to be addressed before preimplantation diagnosis could begin to compare favourably with existing forms of prenatal testing were that the methods of obtaining oocytes or embryos should be simple, well tolerated, highly efficient, and low in maternal risk, and that the genetic analysis of embryonic or extraembryonic cells should be unequivocally accurate.     

Antenatal diagnosis and palliative treatment of non-immune hydrops fetalis secondary to fetal parvovirus B19 infection

Hydrops fetalis was diagnosed at 22 weeks. An ultrasound examination demonstrated cardiomegaly and a fetal blood specimen obtained by cordocentesis revealed thrombocytopenia, anaemia, and neutropenia. Fetal paracentesis yielded straw-coloured fluid with electrolytes indicative of a transudate. Non-enveloped icosahedral viral particles approximately 23 mm in diameter were visualized in the ascitic fluid by electron microscopy. Immune electron microscopy confirmed human parvovirus B19. Direct fetal digitalization led to a reduction in umbilical artery resistance, a decline in the abdominal circumference from 20·3 to 17·8 cm, and resolution of the ascites within 72 h. Despite this dramatic response to therapy, fetal death occurred on day 5 of treatment. The initial maternal serum was positive for anti-B19 IgM and IgG antibodies. Electron microscopy of fetal cardiac tissue obtained post-mortem revealed intranuclear viral particles typical of B19, confirming the antenatal diagnosis of myocarditis. This case demonstrates that direct viral identification is applicable to prenatal diagnosis. To our knowledge, this is the first reported case of the antenatal diagnosis and palliative treatment of fetal viral infection.     

Prenatal diagnosis for the detection of down syndrome: Why are so few eligible women tested?

Postpartum women ≧ 33 years were interviewed about their attitudes to and knowledge and use of prenatal diagnosis. Overall, 68 per cent had heard of prenatal diagnosis; nevertheless, only 30 per cent of those ≧ 35 had actually been tested. The only significant difference between eligible women who were tested and those who were not was maternal age. Of those tested, half requested it for themselves; conversely, only two-thirds of women requesting the procedure actually received it. Among women not tested, 82 per cent were never offered the procedure by the physician. Expressed attitudes to prenatal diagnosis were strongly positive among all women, with 75 per cent continuing to want testing after learning both their age-specific risk of having an affected child and the possible risks of amniocentesis. The data document a potential demand for amniocentesis far in excess of current use and present service facilities. They suggest, moreover, that underuse may reflect professional hesitation and underreferral more than consumer lack of demand or reluctance to be tested.     

Hepatic calcifications in a fetus with trisomy 9 that underwent cordocentesis

Foci of calcification were observed at autopsy in the liver of a fetus with complete trisomy 9 on which two cordocenteses had been performed. It is suggested that liver calcifications are a possible complication of the procedure. As several other cases of calcifications in the liver and other organs of fetuses with autosomal trisomies have been described without a history of cordocentesis, further studies should be carried out to determine whether fetuses with chromosomal anomalies are more prone to thrombus formation and embolization.     

Spontaneous abortion after transcervical chorionic villus sampling: A case report

A case of spontaneous abortion after transcervical CVS is presented. Despite no evidence of bacteria in the vagina and cervix prior to sampling and the prophylactic use of Metronidazole, pathological evidence of chorioamnionitis was found. The implications of this are discussed.     

High-performance permanent magnets

 High-performance permanent magnets (pms) are based on compounds with outstanding intrinsic magnetic properties as well as on optimized microstructures and alloy compositions. The most powerful pm materials at present are RE–TM intermetallic alloys which derive their exceptional magnetic properties from the favourable combination of rare earth metals (RE=Nd, Pr, Sm) with transition metals (TM=Fe, Co), in particular magnets based on (Nd,Pr)₂Fe₁₄B and Sm₂(Co,Cu,Fe,Zr)₁₇. Their development during the last 20 years has involved a dramatic improvement in their performance by a factor of >15 compared with conventional ferrite pms therefore contributing positively to the ever-increasing demand for pms in many (including new) application fields, to the extent that RE–TM pms now account for nearly half of the worldwide market. This review article first gives a brief introduction to the basics of ferromagnetism to confer an insight into the variety of (permanent) magnets, their manufacture and application fields. We then examine the rather complex relationship between the microstructure and the magnetic properties for the two highest-performance and most promising pm materials mentioned. By using numerical micromagnetic simulations on the basis of the Finite Element technique the correlation can be quantitatively predicted, thus providing a powerful tool for the further development of optimized high-performance pms.     

Effects of mercury exposure on ionic regulation in the crayfish Orconectes propinquus

Hemolymph sodium, potassium and calcium concentrations were determined in crayfish (Orconectes propinquus) exposed to (203)HgCl(2) mixed with food to a concentration of 1 microg Hg g(-1). Dummy-fed animals were exposed to Hg-dosed food wrapped in dialysis tubing to control for mercury reaching the animals via leaching from food to water. Hemolymph analyses were made following 14-day Hg exposures and again after a further 21-day 'depuration' period during which all animals were fed Hg-free food. After 14 days, the mercury reached a concentration of 0.175 microg g(-1) in the hepatopancreas and approximately half this level in the gills of Hg-fed animals. No depuration occurred from the hepatopancreas although the gills lost approximately two-thirds of their labelled mercury during the depuration period. Hemolymph sodium concentrations in Hg-exposed crayfish, both fed and dummy-fed, after 14 days were significantly lower than in Hg-free controls and remained low following the 21-day depuration period. Hemolymph calcium concentrations were lower in Hg-fed animals than in dummy-fed and control animals after 14 days although calcium levels rose in all treatments after 35 days. This may have been due to the incidence of pre-molt animals in all experimental groups, although the relationship between this and mercury exposure was not established unequivocally. Hemolymph potassium levels showed no differences between treatments.     

Changes in the digestive gland of Euphausia superba during short-term starvation: lipid class,fatty acid and sterol content and composition

During a period of short-term (19 d) starvation, total lipid in the digestive gland of Euphausia superba Dana decreased from 21 to 9% dry weight. Total lipid per digestive gland decreased significantly during starvation compared to Day 0 individuals, falling from 1960 (±172) to 385 (±81) g. Polar lipid was the major lipid class utilised during starvation, falling from 1510 (±225) to 177 (±46) g per digestive gland (76 to 45%). Absolute levels of triacylglycerol fell from 300 (±41) to 76 (±5) g; however, relative levels remained unchanged. The relative level of free fatty acid increased significantly with starvation (4 to 39%) with absolute levels ranging from 79 (±1) to 156 (±20) g per digestive gland. Absolute levels of all fatty acids per digestive gland declined continually until the end of the starvation period. The long-chain polyunsaturated acids eicosapentaenoic (20:53) and docosahexaenoic (22:63), decreased with starvation from 37 to 26% and 15 to 10%, respectively whereas the saturated fatty acid, palmitic acid (16:0), increased from 15 to 20%. Cholesterol, the major sterol in this organ, increased from 17 (±20) to 44 (±13) g per digestive gland by Day 3, and by Day 19 had returned to levels found in the digestive gland of Day 0 individuals. Desmosterol followed a similar pattern to cholesterol, increasing from 3 (±1) g per digestive gland on Day 0 to 11 (±4) g on Day 3, and falling to 2 (±1) g on Day 19. Other sterols in the digestive gland, predominantly of algal origin, fell from the levels found in Day 0 individuals to near zero amounts by Day 6. The digestive gland of E. superba plays a dynamic role during shortterm starvation in terms of lipid content and composition. The relative levels of polar lipids, free fatty acids and cholesterol in the digestive gland may provide reliable indices of the nutritional condition of E. superba in the field. Sterols in the digestive gland are indicative of recent dietary composition of krill, and may also be used to quantify dietary input from individual phytoplanktonic species.     

Proximate and elemental composition and energy content of mesopelagic crustaceans from the Eastern Gulf of Mexico

The proximate and elemental chemical compositions of 25 species of pelagic decapod and mysid crustaceans collected from the eastern Gulf of Mexico (27°N; 86°W, 1984 to 1989) was examined. Water level ranged from 63 to 95% and increased slightly with species' increased depth of occurrence. Protein levels were generally high (1.5 to 18.3% wet wt, WW; 27.6 to 62.4% ash-free dry wt, AFDW) and comprised the primary organic component in the majority of species. Protein, both as % WW and % AFDW, decreased with increased depth of occurrence. In contrast to protein, lipid levels were low (0.5 to 8.9% WW; 5.7 to 60.9% AFDW), and increased with increased depth of occurrence. Carbon and nitrogen best mirrored measured lipid and protein levels when considered as non-protein carbon and non-chitin nitrogen, respectively. C:N ratios increased with increased depth, consistent with changes in protein and lipid with depth. Because of their compositional attributes, resident Gulf of Mexico species have a low total wet weight energy content relative to species from more productive regions. Energy content showed no significant trend with depth. Vertical migration patterns were distinctly different between shallow-and deep-living gulf species and these differences were largely responsible for the relationships observed between composition and depth. In migrating species, the protein and nitrogen content were higher, the lipid and carbon contents and C:N ratio lower, than in non-migrating species. Three deep-living species of the genus Acanthephyra were found to be compositionally atypical, resembling shallow, migrating types rather than other deep-living, non-migratory species.