2013 NSGC 无创产前检测/无创产前诊断声明
2013年1月,NSGC针对无创产前检测/诊断发表行业学会声明(PositionStatement)。自从1997年科学证实母体血浆中存在游离胎儿DNA,临床研究者们一直致力于建立一种可将无创产前检测技术应用到胎儿遗传性疾病领域的可靠方法。
NIPT检测目前主要有两个技术策略:全基因组测序(Whole-genomesequencing,WGS)和目标区域测序(Targetedsequencingapproach)。前者是对母体内所有游离DNA进行测序并分析,而后者则是通过测序前的目的片段扩增,然后只针对目标染色体区域进行测序并分析。NSGC专家指出:这两种NIPT检测技术都可作为胎儿染色体非整倍的无创产前筛查工具,并且都具有极高灵敏度和特异性。NSGC表明,将支持无创产前检测/诊断(NIPT/NIPD)应用于染色体异常高风险孕妇人群的临床检测,但前提条件是孕妇签署知情同意书,同时,相关医务人员需要专业培训,并有能力和资格进行NIPT检测咨询及结果解答。如NIPT/NIPD检测结果为异常时,应该给孕妇进行遗传咨询并且向其推荐可供选择的产前诊断方法。
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The National Society of Genetic Counselors (NSGC) promotes the professional interests of genetic counselors and provides a network for professional communication. Local and national continuing education opportunities and the discussion of all issues relevant to human genetics and the genetic counseling profession are an integral part of membership in NSGC. The National Society of Genetic Counselors (NSGC) promotes the professional interests of genetic counselors and provides a network for professional communications. Local and national continuing education opportunities and the discussion of all issues relevant to human genetics and the genetic counseling profession are an integral part of belonging to the NSGC. This new and important member of the genetics team was introduced in 1971 when the first class of master's degree genetic counselors graduated from Sarah Lawrence College in Bronxville, NY. With this profession's unique knowledge and skills in counseling and human genetics, genetic counseling professionals rapidly became an integral member of the clinical genetics team. Growth and development within the profession and the recognition of a unique identity provided the impetus for the formation of a responsive professional society. To that end, the National Society of Genetic Counselors was incorporated in 1979. The Society's Vision: Integrating genetics and genomics to improve health for all. The Society's Mission: The National Society of Genetic Counselors advances the various roles of genetic counselors in health care by fostering education, research, and public policy to ensure the availability of quality genetic services.