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Objectives: According to French recommendations, only the caryotype is carried out as a first line in candidates for gamete donation. The prescription of additional genetic tests for variants responsible for serious monogenic diseases is only recommended in the case of call points. However, cystic fibrosis remains the most common genetic disease with serious consequences in childhood. The purpose is to assess the different screening strategies in the Centres d'Études et de Conservation des Œufs et du Sperme humain (CECOS) regarding abnormalities of the Cystic Fibrosis Transmembrane conductance Regulator gene (CFTR)., Method: Our study is based on the analysis of data collected using a questionnaire. Private centres authorised to donate have been excluded from this work., Results: Twenty-six centres participated out of the 33 interviewees. Two centres carry out systematic screening in all their sperm donation candidates while only one centre practises it in its oocyte donation candidates. For the other 23 centres, research is carried out in case of strong clinical suspicions according to personal or family history and when one of the two members of the recipient couple has a known variant. Regarding the molecular analysis technique used, 56.5% of centres use PCR with commercial kits, whereas the other centers use next-generation sequencing., Conclusion: Targeted screening therefore remains widely practiced in France unlike other countries. Moving to expanded systematic screening raises ethical, financial and organisational issues., (Copyright © 2024 Elsevier Masson SAS. All rights reserved.)

Research Question: How is the mental health of open-identity gamete donors and their satisfaction with their contributions 14-17 years after acceptance as a donor?, Design: The Swedish Study on Gamete Donation is a longitudinal study comprising women and men who were accepted as donors at seven Swedish university clinics between 2005 and 2008. The latest (fifth) follow-up included 215 open-identity donors (response rate 87%): 123 oocyte donors and 92 sperm donors. The donors answered a questionnaire regarding their perceptions, experiences and expectations after gamete donation 14-17 years previously., Results: The donors were satisfied with the experience of donating, and no differences were detected between sperm and oocyte donors. Oocyte donors were more than twice as likely to feel that family and friends were proud of their donation compared with sperm donors (51% versus 23%, P < 0.001). In total, six donors regretted their donation: four oocyte donors and two sperm donors. Sperm donors were more frequently satisfied with the financial compensation compared with oocyte donors (P = 0.005). No difference in the development of symptoms of anxiety or depression was detected 14-17 years post-donation., Conclusion: Long-term follow-up studies on donors are important for recruiting donors, and for recipients and the children who will be conceived with donated gametes. The results from the current study indicate that donors, generally, have good mental health and do not regret their decision to donate gametes. These findings are reassuring for all parties involved., (Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Study Question: Do defects in sperm chromatin protamination and condensation have an impact on ICSI outcomes?, Summary Answer: Sperm protamination is related to fertilization rates in healthy donors, and the in vitro capacity of sperm to condense their chromatin is linked to blastocyst rates, both associations being more apparent in women <33 years of age., What Is Known Already: Previous data on how sperm chromatin damage affects ICSI outcomes are inconsistent. Revealing which sperm factors influence embryo development is necessary to understand the male contribution to ICSI success and to develop novel sperm selection techniques or male-based treatments. Sperm chromatin is mainly condensed in protamines, which are cross-linked through disulphide bridges. This study aimed to determine whether sperm protamination and the integrity of disulphide bonds (condensation) are related to embryo development after ICSI., Study Design, Size, Duration: The design was a retrospective study with a blind analysis of sperm chromatin. Gametes were divided into two groups: double donation (DD) cohort and single donation (SD) cohort. Samples from 45 semen donors used in 55 ICSI cycles with oocyte donors (age range 19-33 years), generating 491 embryos, were included in the DD cohort. The SD cohort consisted of samples from 34 semen donors used in 41 ICSI cycles with oocytes from healthy females (single-parent families or lesbian couples, age range 20-44 years), generating a total of 378 embryos., Participants/materials, Settings, Methods: Donor sperm samples from DD and SD cohorts were used for standard ICSI, and embryo development was observed by time-lapse imaging. The incidence of thiol reduction (dibromobimane, DBB) and the degree of chromatin protamination (chromomycin A3, CMA3, indicating non-protaminated regions) in sperm were determined by flow cytometry at 0 and 4 h post-thawing., Main Results and the Role of Chance: Percentages ± standard deviation of CMA3 were 21.08 ± 9.09 and 35.01 ± 14.68 at 0 and 4 h post-thawing, respectively, in the DD cohort and 22.57 ± 9.48 and 35.79 ± 12.58, at 0 and 4 h post-thawing, respectively, in the SD cohort. Percentages of DBB+ were 16.57 ± 11.10 and 10.51 ± 8.40 at 0 and 4 h post-thawing (P < 0.0001), respectively, in the DD cohort and 17.98 ± 10.19 and 12.72 ± 8.76 at 0 and 4 h post-thawing (P < 0.0001), respectively, in the SD cohort. Female age correlated with fertilization rates, and the relation between sperm chromatin and embryo development was determined through multiple linear regression. While CMA3 was associated with fertilization rates, with no influence of female age, in the DD cohort (β1 = -1.036, P < 0.001 for CMA3; β2 = 0.667, P = 0.304 for female age), this was not observed in the SD cohort, where female age had a significant effect, masking the effects of CMA3 (β1 = -0.066, P = 0.804 for CMA3; β 2 = -1.451, P = 0.003 for female age). The in vitro capacity of sperm to condense their chromatin after 4 h of incubation was associated with blastocyst rates, independent of female age (DD cohort: β1 = -0.238, P = 0.008 for %DBB+ variation; β2 = 0.404, P = 0.638 for female age; SD cohort: β1 = -0.278, P = 0.010 for %DBB+ variation; β2 = -0.292, P = 0.594 for female age). The in vitro capacity of sperm to condense their chromatin was also related to the time required for the embryo to reach blastocyst stage in the DD cohort (P = 0.007). Finally, multiple logistic regression showed that both chromatin protamination and condensation, together with the age of the oocyte donors and the embryo recipients, had an impact on pregnancy achievement (P < 0.01) and on live birth rates (P < 0.01)., Limitations, Reasons for Caution: The main limitation was the restrictive selection of couples, which led to a relatively small sample size and could influence the observed outcomes. For this reason, and to reduce Type I error, the level of significance was set at P ≤ 0.01. On the other hand, the use of cryopreserved samples could also be a limitation., Wider Implications of the Findings: This research demonstrated that protamination and condensation of sperm chromatin are related to embryo development after ICSI, but female age could be a confounding factor when oocytes from older females are used., Study Funding/competing Interest(s): This work was supported by the European Union's Horizon 2020 Research and Innovation scheme under the Marie Skłodowska-Curie grant agreement No 801342 (Tecniospring INDUSTRY; TECSPR-19-1-0003); La Marató de TV3 Foundation (214/857-202039); the Ministry of Science and Innovation, Spain (IJC2019-039615-I); the Catalan Agency for Management of University and Research Grants, Regional Government of Catalonia, Spain (2017-SGR-1229); and the Catalan Institution for Research and Advanced Studies, Spain (ICREA). The authors declare no competing interests., Trial Registration Number: N/A., (© The Author(s) 2022. Published by Oxford University Press on behalf of European Society of Human Reproduction and Embryology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Purpose: To estimate the probability of high-risk genetic matching when assisted reproductive techniques (ART) are applied with double gamete donation, following an NGS carrier test based on a complete study of the genes concerned. We then determine the results that would have been obtained if the genotyping tests most widely used in Spanish gamete banks had been applied., Methods: In this descriptive observational study, 1818 gamete donors were characterised by NGS. The pathogenic variants detected were analysed to estimate the probability of high-risk genetic matching and to determine the results that would have been obtained if the three most commonly used genotyping tests in ART had been applied., Results: The probability of high-risk genetic matching with gamete donation, screened by NGS and complete gene analysis, was 5.5%, versus the 0.6-2.7% that would have been obtained with the genotyping test. A total of 1741 variants were detected, including 607 different variants, of which only 22.6% would have been detected by all three genotyping tests considered and 44.7% of which would not have been detected by any of these tests., Conclusion: Our study highlights the considerable heterogeneity of the genotyping tests, which present significant differences in their ability to detect pathogenic variants. The complete study of the genes by NGS considerably reduces reproductive risks when genetic matching is performed with gamete donors. Accordingly, we recommend that carrier screening in gamete donors be carried out using NGS and a complete study with nontargeted analysis of the variants of the screened genes., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Spain is the European country where more assisted reproduction techniques (ART) are performed, reaching 9% of newborns. The objective of this article is to introduce the legal framework and to analyze some ethical questions, not without controversy, in relation to the anonymity of gamete donors and the concealment of origin by ART from their children. Spanish legislation establishes the relative anonymity of donors: both gamete recipients and born children have the right to obtain general information about them as long as their identity is not included, but in situations of risk to the life and health of the children allows your bankruptcy. Likewise, an unequivocal right to privacy and confidentiality of submission to the ART is established. The movement aimed at introducing in our country a legislative amendment that ends the anonymity of gamete donors is based on the right of those children to know their biological origin. Along with legal changes, the attitude of parents and professionals must gradually change towards more transparent and responsible communication, based on the experiences of adults conceived by these techniques, and those adopted. Building values such as trust and truth in the family relationships from responsibility requires placing the children, largely forgotten and the most vulnerable part, at the center of the debate., (Copyright © 2021 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.)

Next-generation sequencing (NGS) has the capacity of carrier screening in gamete donation (GD) programs. We have developed and validated an NGS carrier-screening test (qCarrier test) that includes 200 genes associated with 368 disorders (277 autosomal recessive and 37 X-linked). Carrier screening is performed on oocyte donation candidates and the male partner of oocyte recipient. Carriers of X-linked conditions are excluded from the GD program, whereas donors are chosen who do not carry mutations for the same gene/disease as the recipients. The validation phase showed a high sensitivity (>99% sensitivity) detecting all single-nucleotide variants, 13 indels, and 25 copy-number variants included in the validation set. A total of 1,301 individuals were analysed with the qCarrier test, including 483 candidate oocyte donors and 635 receptor couples, 105 females receiving sperm donation, and 39 couples seeking pregnancy. We identified 56% of individuals who are carriers for at least one genetic condition and 1.7% of female donors who were excluded from the program due to a carrier state of X-linked conditions. Globally, 3% of a priori assigned donations had a high reproductive risk that could be minimized after testing. Genetic counselling at different stages is essential for helping to facilitate a successful and healthy pregnancy., (© 2016 WILEY PERIODICALS, INC.)

This paper discusses the attitudes of three groups of stakeholders in the world of assisted reproduction gamete donors, parents who use donated gamete, and offspring conceived with donated gametes with respect to the two issues of donor anonymity and limits on the number of offspring a single donor can produce. The data are drawn from on-line surveys which were made available between May 12, 2104 and August 15, 2014 to gamete donors, donor-conceived offspring, and parents who used donated gametes to conceive. A total of 325 donors (176 egg donors; 149 sperm donors) responded to the survey as did 2134 parents and 419 offspring. The data show that offspring are more opposed to donor anonymity than are parents and donors. Among offspring opposition to anonymity grows as they age. On the other hand, parents are most in favor of limits on numbers of offspring produced by a single donor. Parents worry about health and accidental contact between people conceived from the same donor.