Prenatal exclusion of haemophilia a and carrier testing by direct detection of a disease lesion

A novel mutation was detected in the Factor VIII gene of a sporadic case of severe haemophilia A. The lesion, a CGA → TGA transition, converts Arg 795 to Term and adequately accounts for the severe phenotype observed. PCR/direct sequencing was used to confirm the carrier status in the mother. Exclusion of haemophilia A in an at-risk pregnancy was then achieved by demonstration of the absence of this lesion in fetal DNA from a chorionic villus sample. The mutation was also detectable by chemical cleavage of mismatch (CCM), which both confirmed the prenatal diagnosis and established the carrier status of the proband's sister. This example therefore serves to illustrate the potential of direct gene analysis in sporadic cases of haemophilia A and/or in families uninformative for known RFLPs.     

Changing trends in carrier screening for genetic disease in the United States

Genetic disease is the leading cause of infant death in the United States, accounting for approximately 20% of annual infant mortality. Advances in genomic medicine and technological platforms have made possible low cost, pan-ethnic expanded genetic screening that enables obstetric care providers to offer screening for over 100 recessive genetic diseases. However, the rapid integration of genomic medicine into routine obstetric practice has raised some concerns about the practical implementation of such testing. These changing trends in carrier screening, along with concerns and potential solutions, will be addressed. © 2015 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.     

Prenatal cystic fibrosis carrier screening: Factors in a woman's decision to decline testing

Among 2207 women eligible to be screened for cystic fibrosis (CF) carrier status during pregnancy, 325 (15 per cent) declined to be tested. Of these, 260 (80 per cent) answered a questionnaire soliciting their reasons for not participating. The main factor was opposition to termination of pregnancy, with 43 per cent being against termination for any reason and another 11 per cent against termination of a CF fetus. Other reasons given were partner's disapproval or non-participation (10 per cent), perceived risk of a CF child being low (7 per cent), the error rate of the test (6 per cent), and the generation of unacceptable levels of anxiety (5 per cent). Eleven women (4 per cent) said that they did not wish to be tested during pregnancy, but only six of these would have accepted screening at another time.     

热点10气候变化公约第14次缔约方大会召开在即,谈判局亟待打破

联合国气候变化框架公约第14次缔约方大会(COP14)将在波兰的波兹南召开,这是巴厘路线图所启动的气候变化谈判进程中关键的里程碑.其实质就在于打破长期以来的谈判僵局,凝聚各国制定全球协议的政治意愿和合理预期,会议将把国际社会对于未来气候制度的讨论及进展转化为未来一年谈判的细节,就具体方案和行动达成一致,为2009年底哥本哈根谈判确立基调.     

Prenatal diagnosis in a female carrying a deletion close to the duchenne locus

Family studies including the proband are usually needed before a prenatal diagnosis may be performed for Duchenne muscular dystrophy. We report here on prenatal diagnosis in a family where the solitary index case was dead, and where the consultand and her mother were assumed to be carriers by independent evidence. DNA anaylsis revealed that both the consultand and her mother had an X chromosome deleted for DNA material in the Xp21 region. The female fetus also carried the deleted X chromosome.     

Parental reaction and adaptability to the prenatal diagnosis of fetal defect or genetic disease leading to pregnancy interruption

The objective of the study was to evaluate the psychological reaction of two groups of parents to a pregnancy termination after they had undergone a prenatal diagnostic procedure. The analysis involved interviews with a study group of 76 patients who were at risk of giving birth to a child with a genetic disease or defect and a comparison group of 124 who had a pregnancy termination after a major anomaly had been detected by routine ultrasound and who were not at known risk for a genetic disease. Only patients in the study group had received counselling before the prenatal diagnosis and were aware that the fetus could be affected. The overall reaction of the comparison group was one of shock, denial of fetal abnormality, and guilt over ‘abandoning the fetus’. A feeling of guilt was expressed by patients in the comparison group (73 per cent versus 29 per cent) in the period immediately following the interruption. One-third of patients in both groups felt obliged to undergo a therapeutic abortion. More patients in the study group than in the comparison group expressed the need to see a psychiatrist at the time of the study (19 per cent versus 7 per cent) and viewed future pregnancies as a replacement for the lost pregnancy (63 per cent versus 19 per cent). The recommendations of the study focus on information sessions to personnel, nursing support, analgesia during the expulsion period, an atmosphere of respect that should be present at the time that the fetus is viewed, the anticipation of mourning, and the long-term follow-up of the couple to ensure that counselling for future pregnancies and psychological support are provided when needed.     

One trait, many signals: different information on male quality is enclosed within the same trait in a blenny fish

Colourful ornaments are traditionally evaluated as one trait. However, they could consist of several components, such as total size, colour intensity and extension, each possibly bearing its own message about one aspect of quality. Males of the blenny Salaria pavo exhibit a colourful head crest and solely care for eggs. During the breeding season, the head crest shows a yellow colouration, the intensity and relative extension of which are independent of crest size. Here, we show that: (1) carotenoids are responsible for the head crest yellow patch; (2) activating the immune system by injecting the bacterial antigen lipopolysaccharides affects both the intensity and extent of the yellow colouration; and (3) females assess males on the basis of colour patch expression. However, the response of the yellow patch to the immune challenge was dependent on head crest size. Indeed, males with a larger head crest reacted better to the simulated infection, sustaining a level of yellow patch close to pre-challenge size.     

适应气候变化是当务之急

地球气候变化既有自然因素又有人为因素,全球变暖主要原因是人类活动温室气体排放过度。因此,在应对气候变化问题上,人们对减排温室气高度重视是理所当然,而长期以来对＂适应气候变化＂却有所忽视。其实,对发展中国家《适应气候变化》才是当务之急。本文在＂发展低碳经济,应对全球变暖＂减排二氧化碳温室气体的基础上,论述适应气候变化的迫切性和基本途径。     

Afforestation opportunities when stand productivity is driven by a high risk of natural disturbance: a review of the open lichen woodland in the eastern boreal forest of Canada

Afforestation has the potential to offset the increased emission of atmospheric carbon dioxide and has therefore been proposed as a strategy to mitigate climate change. Here we review the opportunities for carbon (C) offsets through open lichen woodland afforestation in the boreal forest of eastern Canada as a case study, while considering the reversal risks (low productivity, fires, insect outbreaks, changes in land use and the effects of future climate on growth potential as well as on the disturbances regime). Our results suggest that : (1) relatively low growth rate may act as a limiting factor in afforestation projects in which the time available to increase C is driven by natural disturbances; (2) with ongoing climate change, a global increase in natural disturbance rates, mainly fire and spruce budworm outbreaks, may offset any increases in net primary production at the landscape level; (3) the reduction of the albedo versus increase in biomass may negatively affect the net climate forcing; (4) the impermanence of C stock linked to the reversal risks makes this scenario not necessarily cost attractive. More research, notably on the link between fire risk and site productivity, is needed before afforestation can be incorporated into forest management planning to assist climate change mitigation efforts. Therefore, we suggest that conceivable mitigation strategies in the boreal forest will likely have to be directed activities that can reduce emissions and can increase C sinks while minimizing the reversal impacts. Implementation of policies to reduce Greenhouse Gases (GHG) in the boreal forest should consider the biophysical interactions, the different spatial and temporal scales of their benefits, the costs (investment and benefits) and how all these factors are influenced by the site history.     

Is selective abortion for a genetic disease an issue for the medical profession? A comparative study of Quebec and France

This article discusses the results of a study of the stand and attitudes of physicians from the Picardie, Nord-Pas-de-Calais region in France and the province of Quebec (Canada) regarding abortion following the diagnosis of a fetal anomaly by ultrasound, amniocentesis, or chorionic villus sampling. The study examined the degree of acceptability of abortion for several specific conditions as well as the physicians' perceptions of their role in the women's decision to abort. The study shows a consensus (over 75 per cent of the physicians surveyed) for aborting a fetus with trisomy 21. There is a similar consensus, except among Francophones in Quebec, for muscular dystrophy, cystic fibrosis, and Huntington disease. Conversely, there is no consensus (below 60 per cent) for several anomalies. In these cases, Quebec Anglophone physicians find abortion more acceptable than Quebec Francophone or French physicians. Concerning the role of the practitioners in the decision to abort, physicians in France tend to be much more directive than their overseas colleagues. Several hypotheses are suggested to explain the difference between the three groups surveyed.