Soini Sirpa, Ibarreta Dolores, Anastasiadou Violetta, Aymé Ségolène, Braga Suzanne, Cornel Martina, Coviello Domenico A, Evers-Kiebooms Gerry, Geraedts Joep, Gianaroli Luca, Harper Joyce, Kosztolanyi György, Lundin Kersti, Rodrigues-Cerezo Emilio, Sermon Karen, Sequeiros Jorge, Tranebjaerg Lisbeth, Kääriäinen Helena
Department of Medical Genetics, University of Turku, Turku, Finland, and Archbishop Hospital and Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Eur J Hum Genet. 2006 May;14(5):588-645. doi: 10.1038/sj.ejhg.5201598.
The interface between assisted reproductive technologies (ART) and genetics comprises several sensitive and important issues that affect infertile couples, families with severe genetic diseases, potential children, professionals in ART and genetics, health care, researchers and the society in general. Genetic causes have a considerable involvement in infertility. Genetic conditions may also be transmitted to the offspring and hence create transgenerational infertility or other serious health problems. Several studies also suggest a slightly elevated risk of birth defects in children born following ART. Preimplantation genetic diagnosis (PGD) has become widely practiced throughout the world for various medical indications, but its limits are being debated. The attitudes towards ART and PGD vary substantially within Europe. The purpose of the present paper was to outline a framework for development of guidelines to be issued jointly by European Society of Human Genetics and European Society of Human Reproduction and Embryology for the interface between genetics and ART. Technical, social, ethical and legal issues of ART and genetics will be reviewed.
辅助生殖技术(ART)与遗传学之间的交叉领域包含若干影响不孕夫妇、患有严重遗传病的家庭、潜在儿童、ART及遗传学领域的专业人员、医疗保健人员、研究人员以及整个社会的敏感且重要的问题。遗传因素在不孕不育中占据相当大的比例。遗传疾病也可能会遗传给后代,进而导致跨代不孕或引发其他严重的健康问题。多项研究还表明,ART助孕出生的儿童出现出生缺陷的风险略有升高。胚胎植入前遗传学诊断(PGD)因各种医学指征已在全球广泛应用,但其局限性仍存在争议。在欧洲,人们对ART和PGD的态度差异很大。本文旨在概述一个框架,以便欧洲人类遗传学学会和欧洲人类生殖与胚胎学学会联合发布关于遗传学与ART交叉领域的指南。本文将对ART和遗传学的技术、社会、伦理及法律问题进行综述。