Rapid prenatal diagnosis of aneuploidy from uncultured amniotic fluid cells using five-colour fluorescence in situ hybridization

In this paper we describe the use of five-colour fluorescence in situ hybridization for prenatal diagnosis of aneuploidy using uncultured amniotic fluid cells. The analysis is based on ratio mixing of dual-labelled probes and digital imaging for the detection and visualization of five different probes specific for the five target chromosomes, 13, 18, 21, X, and Y. A retrospective blind analysis of 30 coded uncultured amniotic fluid samples correctly detected fetal sex and five trisomy 21 cases. Multicolour fluorescence in situ hybridization used in this way allows rapid and simultaneous detection of the most frequent aneuploidies.     

MSAFP levels and oesophageal atresia

This study was undertaken to evaluate the relationship between maternal serum alpha-fetoprotein (MSAFP) levels and oesophageal atresia (OA). OA occurred in 16 fetuses of mothers who had an MSAFP test in the study interval. The multiple of the median (MOM) value for MSAFP averaged 1·54 ± 0·65 (range 0·5–2·9 MOM), which was significantly higher than the value seen in controls. The median MOM was 1·35. Using a cut-off of 2·5 MOM, the sensitivity of MSAFP for detecting OA was 19 per cent. Although OA should be considered in the differential diagnosis of an elevated MSAFP level, MSAFP cannot be considered an appropriate screening test for OA given the low sensitivity.     

First-trimester free beta (hCG) screening for Down syndrome

Maternal serum free beta (hCG) levels are elevated (median 2·20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta analyte are observed in pregnancy conditions or complications other than Down syndrome.     

Verification of carrier status for Becker muscular dystrophy from analysis of a blighted ovum

The polymerase chain reaction (PCR) was used on material from a blighted ovum to confirm indirectly the carrier status of a woman with a family history of Becker muscular dystrophy. Conventional testing including creatine kinase levels, muscle biopsy, and EMG had been inconclusive, and on the basis of one elevated creatine kinase level, the woman had been designated a possible carrier. Ultrasound examination at 10 weeks of pregnancy indicated a blighted ovum, from which DNA was subsequently extracted and subjected to PCR testing for determination of sex and genotypic status with respect to the known familial deletion of the dystrophin gene. The blighted ovum was found to have a Y chromosome and also to be deleted for at least exon 6 of the dystrophin gene, indirectly indicating that the mother most likely carried the family mutation for Becker muscular dystrophy.     

Application of the analytic hierarchy process to select characterization and risk-based decision-making and management methods for hazardous waste sites

Environmental managers at U.S. Department of Defense (DoD) installations overseas are faced with the challenge of managing contaminated sites at these installations with little information on the extent of contamination or the risk posed by the site. In this regard, DoD managers overseas encounter a situation quite similar to the situation faced by decision makers in the U.S. who are managing brownfields. Innovative site characterization and risk-based decision-making methods, which are currently being developed for expeditious application at brownfield sites in the U.S., may also be appropriate for application at overseas DoD sites. In this paper, the analytic hierarchy process (AHP) is used by DoD decision makers to evaluate and rank innovative site characterization technologies and risk-based decision-making and management methods, for use at installations in Korea. Results indicate that for sites with high potential risk the decision makers preferred site characterization technologies that produce data of high quality and a method that can be used to establish credible risk-based remediation goals. This study provides a framework for applying characterization technologies and risk management to poorly characterized contaminated sites in developing countries, where resources for remedial actions may be limited.     

Carbon mitigation potential and costs of forestry options in Brazil,China, India,Indonesia, Mexico,the Philippines and Tanzania

This paper summarizes studies of carbon (C) mitigation potential and costs of about 40 forestry options in seven developing countries. Each study uses the same methodological approach – Comprehensive Mitigation Assessment Process (COMAP) – to estimate the above parameters between 2000 and 2030. The approach requires the projection of baseline and mitigation land-use scenarios. Coupled with data on a per ha basis on C sequestration or avoidance, and costs and benefits, it allows the estimation of monetary benefit per Mg C, and the total costs and carbon potential. The results show that about half (3.0 Pg C) the cumulative mitigation potential of 6.2 Petagram (Pg) C between 2000 and 2030 in the seven countries (about 200× 10⁶ Mg C yr^-1) could be achieved at a negative cost and the remainder at costs ranging up to $100 Mg C^-1. About 5 Pg C could be achieved, at a cost less than $20 per Mg C. Negative cost potential indicates that non-carbon revenue is sufficient to offset direct costs of these options. The achievable potential is likely to be smaller, however, due to market, institutional, and sociocultural barriers that can delay or prevent the implementation of the analyzed options.