Guidelines for the appropriate use of genetic tests in infertile couples

Carlo Foresta, Alberto Ferlin, Luca Gianaroli, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review


Research on genetic causes of male and female infertility rapidly expanded in the last years, following the development of in vitro fertilising techniques. Genetic tests are now available to explore the cause of the infertility and assess the risk of a given couple to transmit its genetic characteristics. This allows at-risk couples to take an informed decision when electing for a medically assisted reproduction. It also allows the professionals to offer a prenatal diagnosis when appropriate. Thus, the genetic work-up of the infertile couple has become good practice for an appropriate diagnosis, treatment and prognostic assessment. The lack of national or international rules for the genetic approach to the infertile couple, prompted the Italian community of professionals in the field of reproductive medicine to join and set up guidelines for the genetic diagnosis of male and female infertility. The group of clinical and research experts is representative of 12 national scientific societies and was supported by external experts from four international societies. We examine the clinically relevant genetic causes of male and female infertility and suggest the category of patients for which each genetic test is recommended or optional, both for an accurate diagnosis and prior to ART.

Original languageEnglish
Pages (from-to)303-312
Number of pages10
JournalEuropean Journal of Human Genetics
Issue number5
Publication statusPublished - 2002


  • Female infertility
  • Genetics
  • Male infertility
  • Mutations

ASJC Scopus subject areas

  • Genetics(clinical)


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