Special Interest Group

Reproductive Genetics

Welcome to the section dedicated to the Special Interest Group Reproductive Genetics. Here you can read more about us, our activities and our recommended reading. 


Mission statement and fields of interest

Reproductive Genetics focuses on a range of topics that involve the genetic and epigenetic aspects of both natural and assisted reproduction. It is a field constantly evolving due to the rapid technological advances and it is our focus to constantly explore how technologies can be used to help understand the biology of reproduction. Our interest expands to investigate available genetic tests to identify couples at risk of passing a genetic mutation to their offspring, to study the genetics of infertility, to acquire information about the genetic characteristics of embryos, to improve our understanding on the genetic and epigenetic regulation during development, the genetic and epigenetic impact of assisted reproduction, the use of preimplantation genetic testing (PGT), the ability to detect or correct genetic disease in human gametes and embryos, the current status of prenatal screening and diagnosis.

Mission statement

The aims of the SIG Reproductive Genetics are:

  • Bring together novel insights and research studies on the topics of interest, to stimulate discussion and encourage research;
  • Increase awareness and understanding of the role of genetics in reproduction;
  • Conduct ongoing reviews of any arising issues in genetics (by formulating dedicated workgroups);
  • Evaluate the appropriateness of genetic tests and develop standards for the application of genetic testing in reproduction;
  • Collect data on current PGT practice (availability, range of referrals, accuracy, reliability, effectiveness, safety), formulate expert recommendation documents to promote best practice, encourage networking between PGT scientists (via the practice of the PGT Consortium).
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ESHRE PGT Consortium

The first clinical application of PGT was reported in the early 1990s. The field has seen immense progression mainly in the techniques used for either chromosomal or molecular diagnosis. We have seen two-colour FISH evolve to five colour FISH, and now molecular karyotyping using array-CGH at the single cell level. Conventional PCR was replaced by fluorescent PCR, then multiplex PCR and whole genome amplification. Some groups are already using SNP arrays for PGT and genome sequencing is around the corner. Since the early days, the number of PGT cycles carried out and the number of clinics offering PGT has grown year by year. In 1997 it was decided to bring these activities together in the ESHRE PGT Consortium.

Register now for the ESHRE webinar series

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ESHRE Guidelines

Good practice recommendations for PGT

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