Genetics of infertility: a paradigm shift for medically assisted reproduction.

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  • Additional Information
    • Source:
      Publisher: Oxford University Press Country of Publication: England NLM ID: 8701199 Publication Model: Print Cited Medium: Internet ISSN: 1460-2350 (Electronic) Linking ISSN: 02681161 NLM ISO Abbreviation: Hum Reprod Subsets: MEDLINE
    • Publication Information:
      Publication: Oxford, UK : Oxford University Press
      Original Publication: Oxford ; Washington, DC : Published for the European Society of Human Reproduction and Embryology by IRL Press, [c1986-
    • Subject Terms:
      Infertility*/genetics ; Infertility*/therapy ; Infertility, Female*/genetics ; Infertility, Female*/therapy ; Infertility, Male*/diagnosis ; Infertility, Male*/genetics ; Infertility, Male*/therapy; Pregnancy ; Humans ; Male ; Female ; Reproduction/genetics ; Genetic Testing ; Pregnancy, Multiple ; Family Planning Services
    • Abstract:
      The field of reproductive genetics has undergone significant advancements with the completion of the Human Genome Project and the development of high-throughput sequencing techniques. This has led to the identification of numerous genes involved in both male and female infertility, revolutionizing the diagnosis and management of infertility patients. Genetic investigations, including karyotyping, specific genetic tests, and high-throughput sequencing, have become essential in determining the genetic causes of infertility. Moreover, the integration of genetics into reproductive medicine has expanded the scope of care to include not only affected individuals or couples but also their family members. Genetic consultations and counselling play a crucial role in identifying potentially affected relatives and offering tailored therapy and the possibility of fertility preservation. Despite the current limited therapeutic options, an increasing understanding of genotype-phenotype correlations in infertility genes holds promise for improved treatment outcomes. The availability of genetic diagnostic tools has reduced the number of idiopathic infertility cases by providing accurate aetiological diagnoses. The transition from research to clinical practice in reproductive genetics requires the establishment of genetic consultations and data warehousing systems to provide up-to-date information on gene-disease relationships. Overall, the integration of genetics into reproductive medicine has brought about a paradigm shift, emphasizing the familial dimension of infertility and offering new possibilities for personalized care and family planning.
      (© The Author(s) 2023. Published by Oxford University Press on behalf of European Society of Human Reproduction and Embryology. All rights reserved. For permissions, please email: [email protected].)
    • Contributed Indexing:
      Keywords: azoospermia; counselling; fertility preservation; genetic; high-throughput sequencing; infertility; medically assisted reproduction; personalized treatment; primary ovarian insufficiency
    • Publication Date:
      Date Created: 20231006 Date Completed: 20231205 Latest Revision: 20241118
    • Publication Date:
      20241119
    • Accession Number:
      10.1093/humrep/dead199
    • Accession Number:
      37801292