» Articles » PMID: 33842976

The Use of Expanded Carrier Screening of Gamete Donors

Overview
Journal Hum Reprod
Date 2021 Apr 12
PMID 33842976
Citations 9
Authors
Affiliations
Soon will be listed here.
Abstract

Study Question: What are the sperm and egg donor rejection rates after expanded carrier screening (ECS)?

Summary Answer: Using an ECS panel looking at 46/47 genes, 17.6% of donors were rejected.

What Is Known Already: The use of ECS is becoming commonplace in assisted reproductive technology, including testing of egg and sperm donors. Most national guidelines recommend rejection of donors if they are carriers of a genetic disease. If the use of ECS increases, there will be a decline in the number of donors available.

Study Design, Size, Duration: A review of the current preconception ECS panels available to donors was carried out through an online search. The genetic testing results of donors from Cryos International were analysed to determine how many were rejected on the basis of the ECS.

Participants/materials, Setting, Methods: Data on gamete donors and their carrier status was provided by Cryos International, who screen donors using their own bespoke ECS panel. The ECS panels identified through the review were compared to the Cryos International panel and data.

Main Results And The Role Of Chance: A total of 16 companies and 42 associated ECS panels were reviewed. There were a total of 2673 unique disorders covered by the panels examined, with a mean of 329 disorders screened. None of these disorders were common to all panels. Cryos International screen 46 disorders in males and 47 in females. From 883 candidate donors, 17.6% (155/883) were rejected based on their ECS result. Carriers of alpha-thalassaemia represented the largest proportion of those rejected (19.4%, 30/155), then spinal muscular atrophy (15.5%, 24/155) and cystic fibrosis (14.8%, 23/155).

Limitations, Reasons For Caution: Panel information was found on company websites and may not have been accurate.

Wider Implications Of The Findings: This study highlights the need for consistent EU regulations and guidelines that allow genetic matching of gamete donors to their recipients, preventing the need to reject donors who are known carriers. A larger ECS panel would be most beneficial; however, this would not be viable without matching of donors and recipients.

Study Funding/competing Interest(s): No specific funding was obtained. J.C.H. is the founder of Global Women Connected, a platform to discuss women's health issues and the Embryology and PGD Academy, who deliver education in clinical embryology. She has been paid to give a lecture by Cryos in 2019. A-B.S. is an employee of Cryos International.

Trial Registration Number: N/A.

Citing Articles

Clinical exome sequencing for carrier screening in assisted reproductive technology and sperm donation.

Cai H, Bai H, Qiao S, Xue X, Shi W, Shi J J Assist Reprod Genet. 2025; .

PMID: 39885104 DOI: 10.1007/s10815-025-03406-8.


Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.

Huang C, Chu L, Liang B, Wu H, Li B, Ren S Ann Med. 2025; 57(1):2447421.

PMID: 39757988 PMC: 11721621. DOI: 10.1080/07853890.2024.2447421.


Genetic study on candidates for oocyte donation.

Araujo S, Paula Neto A, Pinho M, Doria S, Barros A, Carvalho F JBRA Assist Reprod. 2024; 29(1):61-66.

PMID: 39688442 PMC: 11867239. DOI: 10.5935/1518-0557.20240087.


An exploratory study of perceptions and utilization of genetic information in the intended parent experience of oocyte donor selection.

Kalscheur C, Kashmola-Perez I, Rust L, McCarthy Veach P, Redlinger-Grosse K J Assist Reprod Genet. 2024; 41(11):2999-3011.

PMID: 39446242 PMC: 11621244. DOI: 10.1007/s10815-024-03298-0.


Survey on ART and IUI: legislation, regulation, funding, and registries in European countries-an update.

Calhaz-Jorge C, Smeenk J, Wyns C, De Neubourg D, Baldani D, Bergh C Hum Reprod. 2024; 39(9):1909-1924.

PMID: 39043375 PMC: 11373472. DOI: 10.1093/humrep/deae163.


References
1.
Silver A, Larson J, Silver M, Lim R, Borroto C, Spurrier B . Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children. Genet Test Mol Biomarkers. 2016; 20(6):276-84. PMC: 4892196. DOI: 10.1089/gtmb.2016.0014. View

2.
Vaz-de-Macedo C, Harper J . A closer look at expanded carrier screening from a PGD perspective. Hum Reprod. 2017; 32(10):1951-1956. DOI: 10.1093/humrep/dex272. View

3.
Srinivasan B, Evans E, Flannick J, Scott Patterson A, Chang C, Pham T . A universal carrier test for the long tail of Mendelian disease. Reprod Biomed Online. 2010; 21(4):537-51. DOI: 10.1016/j.rbmo.2010.05.012. View

4.
Henneman L, Borry P, Chokoshvili D, Cornel M, van El C, Forzano F . Responsible implementation of expanded carrier screening. Eur J Hum Genet. 2016; 24(6):e1-e12. PMC: 4867464. DOI: 10.1038/ejhg.2015.271. View

5.
Boggio A . The Legalisation of Gamete Donation in Italy. Eur J Health Law. 2017; 24(1):85-104. DOI: 10.1163/15718093-12341409. View