ESHRE Good Practice Recommendations on Expanded Carrier Screening in medically assisted reproduction
Expanded Carrier Screening (ECS) for reproductive purposes is a genetic testing strategy intended to identify individuals or couples who carry pathogenic/likely pathogenic variants in genes associated with autosomal recessive (AR) or X-linked recessive (XLR) conditions. Its primary aim is to assess potential risks to future offspring, rather than to diagnose or predict health conditions in the parents themselves.
The purpose of this paper is to establish good practice recommendations for the implementation of ECS in MAR centres, to promote standardised, ethical, and effective use that can support informed reproductive decision-making.
This includes the following:
- Clinical implementation and management pathways
- Genetic counselling requirements (pre- and post-test protocols, informed consent)
- Ethical and legal frameworks (equity of access, data privacy, reporting thresholds)
- Technical considerations (panel design, analytic and clinical validity, variant interpretation)
- Future research priorities
The Good Practice Recommendations paper is now open for stakeholder review, between 15 May and 12 June 2026.
How to participate:
- Read the draft recommendations
- Download the reviewer form
- Send the completed reviewer form to guidelines@eshre.eu before 12 June 2026.
On behalf of the ECS working group.