Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing

Molecular karyotyping using chromosome microarray analysis (CMA) detects more pathogenic chromosomal anomalies than classical karyotyping, making CMA likely to become a first tier test for prenatal diagnosis. Detecting copy number variants of uncertain clinical significance raises ethical considerations. We consider the risk of harm to a woman or her fetus following the detection of a copy number variant of uncertain significance, whether it is ethically justifiable to withhold any test result information from a woman, what constitutes an ‘informed choice’ when women are offered CMA in pregnancy and whether clinicians are morally responsible for ‘unnecessary’ termination of pregnancy. Although we are cognisant of the distress associated with uncertain prenatal results, we argue in favour of the autonomy of women and their right to information from genome-wide CMA in order to make informed choices about their pregnancies. We propose that information material to a woman's decision-making process, including uncertain information, should not be withheld, and that it would be paternalistic for clinicians to try to take responsibility for women's decisions to terminate pregnancies. Non-directive pre-test and post-test genetic counselling is central to the delivery of these ethical objectives. © 2012 John Wiley & Sons, Ltd.     

PCR-微阵列法检测沿岸海水致病性创伤弧菌及危害评估

本研究建立了PCR和寡核苷酸探针阵列杂交技术,方便、快速、准确地检测了海水中创伤弧菌的存在状况.本项检测针对创伤弧菌的两个重要毒性基因whA,viuB,其中viuB可以对普通环境株和致病株进行区分.渤海湾沿岸6个采样点,共60个沿岸海水样本被用于这一方法的评估,得到了这些采样点所在区域创伤弧菌的分布,毒性株的存在状况的信息.