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ESHRE Monographs 2006 2006(1):2-51; doi:10.1093/humrep/del390
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

The interface between medically assisted reproduction and genetics: technical, social, ethical and legal issues*

Sirpa Soini1,2, Dolores Ibarreta3,{dagger}, Violetta Anastasiadou4, Ségolène Aymé5, Suzanne Braga6, Martina Cornel7, Domenico A. Coviello8, Gerry Evers-Kiebooms9, Joep Geraedts10, Luca Gianaroli11, Joyce Harper12, György Kosztolanyi13, Kersti Lundin14, Emilio Rodrigues-Cerezo3, Karen Sermon15, Jorge Sequeiros16, Lisbeth Tranebjaerg17 and Helena Kääriäinen18,19

1 Department of Medical Genetics, University of Turku, Turku, 2 Medical and Biolaw, University of Helsinki, Helsinki, Finland, 3 European Commission’s Joint Research Center, Seville, Spain, 4 Clinical Genetics Department, Archbishop Hospital and Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, 5 INSERM, Paris, France, 6 SGMG/SSGM, Bern, Switzerland, 7 VU University Medical Center, Amsterdam, The Netherlands, 8 Laboratory of Medical Genetics, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy, 9 Psychosocial Genetics Unit, University Hospital – University of Leuven, Leuven, Belgium, 10 Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands, 11 SISMeR, Centre for Reproductive Medicine, Bologna, Italy, 12 UCL Centre for PGD, London, UK, 13 Department of Medical Genetics, University of Pécs, Pécs, Hungary, 14 SU/Sahlgrenska, Göteborg, Sweden, 15 Centre for Medical Genetics, Dutch-speaking Brussels Free University, Brussels, Belgium, 16 Department of Human Genetics, University of Porto, Porto, Portugal, 17 Department of Audiology, H:S Bispebjerg Hospital and Wilhem Johannsen Centre of Functional Genomics, University of Copenhagen, Copenhagen, Denmark and 18 Department of Medical Genetics, University of Turku, Turku, Finland

19 To whom correspondence should be addressed at: Department of Medical Genetics, University of Turku, Kiinamyllykatu 10, FIN-20520 Turku, Finland. E-mail: hkaaria{at}utu.fi

* Reprinted from European Journal of Human Genetics (2006) 1–58 with permission.

{dagger} The views expressed in this study do not necessarily reflect those of the European Commission (EC).

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. 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 this article was to outline a framework for development of guidelines to be issued jointly by European Society of Human Genetics (ESHG) and European Society of Human Reproduction and Embryology (ESHRE) for the interface between genetics and ART. Technical, social, ethical and legal issues of ART and genetics will be reviewed.

Keywords: assisted reproductive technology; birth defects; counselling; genetic diseases; infertility; PGD


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