Carrier screening update for egg and sperm recipients

 

We were pleased to attend the ESHRE conference in London this year. It was a busy few days with updates on guidance for using PGT-A tested embryos with mosaic and segmental results and screening for genes associated with fertility. Our poster that was selected for inclusion at the conference highlighted the work we do supporting egg and sperm donor recipients for carrier screening with individualised pathways to proceeding with their treatment plans. 

 

Take a look at the take aways from our poster: 

 

 

How can clinics support sperm donor recipients to understand a positive or negative donor carrier status with pan-ethnic carrier screening for informed decision making? 

Genetic counselling enables recipients to understand potential reproductive risks and helps informed, autonomous decision-making in relation to donor selection and reciprocal carrier screening. 

HFEA data indicate that over 50% of new UK donor registrations involve imported donors, with 48% originating from the United States or Denmark, where recessive carrier screening panels range from 6 to over 700 genes. Current UK professional guidelines do not clearly define clinical workflows for managing carrier screening results. As a result, gamete donor selection is complex for clinics and recipients, with considerable variation in practice driven by clinic policies or donor bank screening approaches rather than standardised guidance. 

An audit of referrals to a single private genetic counselling service were examined January 2020-December 2025. Donor recipient referrals were recorded year on year, noting whether recipients selecting carrier-positive donors opted to proceed with use of this donor post-counselling and if reciprocal screening was chosen, mandated by their clinic, or declined. 

During the study period, 647 referrals involved donor sperm and 31 involved donor oocytes. Recipients were offered genetic counselling addressing carrier status, associated risks, and available testing options. Where carrier screening was not mandatory, recipient decisions to accept donor-associated risk or pursue reciprocal screening were evaluated to assess decision-making around risk acceptance and screening uptake. 

No referrals were received for donors who underwent screening and were not identified as carriers. Where carrier screening was not mandated, following genetic counselling, 489/663 (73.7%) of sperm recipients and 7/15 (46.6%) of oocyte recipients chose to proceed with their selected carrier-positive donor without undergoing reciprocal testing, after being informed of the generally low reproductive risk. Egg donor recipients were more likely to undertake carrier matching. Recipients electing to undergo reciprocal testing generally opted for targeted panels and occasionally expanded screening to support future donor matching.  61 referrals originated from a clinic where reciprocal testing was initially mandated; following a policy change removing this requirement during the study period, recipient decision-making aligned with patterns observed in clinics where screening was not mandated. 

Our findings are limited by the clinics referring to the service. Studies are needed to understand recipient access to genetic counselling and the impact of carrier status on donor availability, including where recipients may be restricted from accessing donors or required to undergo testing to proceed with their chosen donor. 

Patients who undertake consultation with a genetic professional can understand their reproductive risk for autonomous decision-making. Understanding residual risk in carrier-negative donors may inadequately addressed. Updated carrier screening guidelines, including counselling recommendations, are required to ensure consistency and equity for patients and maximise the range of available donors.