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Genetic causes of reproductive failure and their consequences on health

Precongress Course 9

SIG Reproductive Genetics  Special Interest Group Reproductive Genetics

 

Course Coordinators
Efthymia Constantinou (Cyprus), Antonio Capalbo (Italy), Georgia Kakourou (Greece), Alberto Sola Leyva (Spain), Noemi Casteluccio (Belgium), Josep Pla Victory (Spain) 

Course type
Basic

Course description
This precongress course will cover the factors leading to reproductive failure and their consequences on individual’s health. Starting from the genetics of male and female infertility where monogenic aetiology will be examined, we will then discuss chromosomal, genetic and epigenetic causes of embryo arrest and miscarriages. Finally, we will elaborate on the new approach for the diagnosis of reproductive failure through the detection of lethal variants.

Target audience
Reproductive geneticists, gynaecologists, andrologists, embryologists

Educational needs and expected outcomes
As 1/6 couples in developed countries worldwide are facing infertility issues, reproductive (epi)genetics have now developed various tools and diagnostic tests for the diagnosis of infertility in couples, and more specifically for those with “unexplained” infertility. Research findings suggest that the genetic causes of reproductive failure are extremely variable; thus, new diagnostic approaches covering all potentially deleterious factors leading to reproductive failure are of outmost importance.

Participants will be able to foster a deeper understanding on the current advancements in reproductive genetics for the diagnosis of reproductive failure and critically assess their utility, validity and possible limitations.

Innovative aspects of the course
Innovative genetic testing options will be presented in this course for the assessment of embryo developmental arrest and reproductive failure.

Programme



Sunday 29 June 2025

Session 1: Genetics of infertility: a look at female and male factors
09:00 - 09:30
Monogenic gene–disease relationships in human female infertility and differences in sex development
Özlem Okutman, Belgium
09:30 - 09:45
Discussion
09:45 - 10:15
The genes behind male infertility
Albert Salas-Huetos, Spain
10:15 - 10:30
Discussion
10:30 - 11:00
Coffee break
Session 2: Chromosomal alterations in embryo arrest and miscarriages
11:00 - 11:30
Chromosomal abnormalities as a cause of arrest in in vitro fertilized human preimplantation embryos
Christian Simon Ottolini, Italy
11:30 - 11:45
Discussion
11:45 - 12:15
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss
Andres Salumets, Estonia
12:15 - 12:30
Discussion
12:30 - 13:30
Lunch break
Session 3: Beyond chromosomes
13:30 - 14:00
The multiple origins of genome instability during embryonic development
Speaker invited, but not confirmed
14:00 - 14:15
Discussion
14:15 - 14:45
Human pre-implantation embryo arrest associated with defective genome activation and epigenetic reprogramming
Speaker to be announced
14:45 - 15:00
Discussion
15:00 - 15:30
Coffee break
Session 4: Detection and contribution of lethal variants in reproductive failure
15:30 - 16:00
Genetic and non-genetic causes of pregnancy loss
Henriette Svarre Nielsen, Denmark
16:00 - 16:15
Discussion
16:15 - 16:45
Essential genes and their role in lethal phenotypes and infertility
Pilar Cacheiro, United Kingdom
16:45 - 17:00
Discussion