The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

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.

MeSH terms

  • Ethics, Medical
  • Female
  • Fertilization in Vitro / methods
  • Genetic Counseling
  • Guidelines as Topic
  • Humans
  • Infertility / diagnosis
  • Infertility / genetics*
  • Infertility / therapy
  • Legislation as Topic
  • Male
  • Reproductive Techniques, Assisted / ethics*
  • Reproductive Techniques, Assisted / legislation & jurisprudence*