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. 



Reproductive Genetics deals with the relationship between the genotype and reproduction. This includes studying the transmission of the genetic material and its epigenetic modifications from one generation to the next and also the effects of abnormalities in this genetic material on reproduction. 

In genetic terms, reproduction of an individual or couple is essential. However, the genetic make-up can hamper reproduction and the insight into how this is brought about has made genetic diagnosis and counseling important. 

Mission statement

The aims of the SIG Reproductive Genetics are:

  • To promote the study and discussion of all aspects of the genetics and epigenetics of human reproduction, be it natural or assisted - In in vitro models eg human embryonic stem cells as well as in vivo models in other species.
  • To study the transmission of half the maternal and paternal genotypes via the gametes and the zygote to the next generation and the way in which this new combination of genetic material expresses itself and is modulated by epigenetic influences
  • To provide a forum for discussion and exchange of information.
  • To provide expert advice to the lay public (journalist, politicians) concerning reproductive genetics

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.

News about the SIG in Focus on Reproduction

In ESHRE's online news magazine you can read about past and upcoming events.