Preconception expanded carrier screening

An ESHG–ESHRE survey on the current practice of expanded carrier screening in medically assisted reproduction

Human Reproduction, deae131, published 14 June 2024

This paper presents the results of a cross-sectional survey to assess the current practice and views on expanded carrier screening in European MAR centres using. Discover the full insights and findings in our detailed study.

Read the full paper here.

The ethics of preconception expanded carrier screening in patients seeking assisted reproduction

Preconception carrier screening may now be offered to specific high-risk populations, for instance based on ancestral background. However, when screening is expanded to multiple (mostly) autosomal and X-linked recessive disorders and offered to couples or individuals regardless of ancestry or geographic origin, ethical discussion is warranted. Do the possible benefits of such screening clearly outweigh the possible harms and disadvantages in the context of assisted reproduction, and, if so, for what kinds of disorders and under what conditions?

These and other questions raised by the wider application of ECS are addressed by the Committee’s latest guidance published in HROpen.