Course description

Course type


Course description

The course consists of four sessions in which participants will become familiar with the basic and advanced concepts of genetic and epigenetic inheritance, inherited diseases, and preconception genetic screening, including extended genetic testing. The course will also cover genetic predisposition to infertility and offer a critical appraisal of how genetics underlie specific infertility phenotypes, and how this knowledge may guide personalised treatments, and reproductive choices. Each session will consist of lectures, with time allocated to discussing opinions and concerns regarding the application of extended genetic assessment. To end the programme, the main limitations, practical barriers and ethical perspectives on expanded preconceptional genetic testing will be examined.

Target audience

Reproductive physicians, gynecologists, obstetricians, embryologists, molecular biologists, Geneticist (medical doctor and biologist), genetic counsellor, psychologist, ethicist, nurse, midwife.


Educational needs and expected outcomes

There are presently more than 7,000 known genetic disorders and, with lower costs of exome and even whole-genome sequencing, preconception screening is now becoming a realistic possibility. However, human phenotypes are complex and our understanding of how genotypes influence phenotypes are often uncertain. This course aims to fill the gaps for professionals across areas, to provide an in-depth knowledge of basic and advanced concepts of genetics and the advantages and concerns associated with preconception screening.

Participants will learn about basic genetics, including Mendelian inheritance, as well as advanced genetic concepts such as multifactorial and epigenetically inherited traits. Participants will learn about the epidemiology of genetic disorders and how technology can be employed to minimise the risk of passing on mutations at the preconceptional stage. Additionally, participants will learn the minimal requisites of extended carrier screening platforms for providing effective results appropriate for reproductive decision making. Moreover, participants will learn how genetic analysis can be used to identify infertility phenotypes that cannot be explained through physical or endocrinological evaluations and how this information can be used to tailor personalised treatments.


Educational methods

  • Lectures
  • Discussions


The official language of the course is English. 

Certificate of attendance

Participants can obtain a certificate of attendance after completing the workshop evaluation. After the course, ESHRE will send an e-mail with the link and more information.