Long Term Effects of Ovum Donation on Donors

Introduction: As infertility affects 17% of couples, IVF has become a key, increasingly prevalent option for couples with oocyte donors providing eggs to infertile women in ~13.7% of IVF cycles. Despite the growing prevalence of donation, there are no long-term follow up studies on the emotional and health effects of donation. We cannot appropriately counsel patients regarding the risks of the donation procedure without understanding its effects. Objective: This study sets out to identify the long-term effects of oocyte donation on donors’ mental state and physical health and how the attitudes and concerns of oocyte donors regarding their donation and towards their potential offspring evolve over a ten-year period. Methods: We have developed a standardized online questionnaire to evaluate participants for our longitudinal study. Three participants to pilot our online questionnaire were recruited at various collaborator donor sites at the time of their donation. Results: Overall, feedback from participants was positive and all participants found the survey easy to complete. Average time spent was 15 minutes. One respondent wished the survey had additional spaces to elaborate on responses. Response number was limited so individual analysis of responses cannot be done at this time. Discussion: We were able to adjust our survey to elicit donor responses for our longitudinal study. This survey will serve as a standardized measure to evaluate donors going forward. This pilot is our first step to developing a better understanding of how attitudes of donors evolve over time and the long-term mental and physical effects of donation

Implementation of Psychological Interview and Testing in a Large Sperm Bank

Introduction: Historically, sperm donor applicants have been medically but not psychologically evaluated by mental health professionals (MHPs). As social norms and legislation shift toward non-anonymous donation, psychological assessments can provide opportunities to exclude unqualified donors and allow donors to consider the long-term implications of donating. Objective: To determine the effectiveness of psychological screening in identifying unqualified sperm donors, and to evaluate psychological reasons for disqualification through clinical interview and testing. Methods: A retrospective chart review of 229 potential donors who passed initial qualification at a major sperm bank from February 2017 to February 2018. All potential donors were evaluated by MPHs using clinical interview and Personality Assessment Inventory. Descriptive statistics were used for analysis. Results: Following assessments and interviews, 33 (14.4%) of the 229 applicants were disqualified and 32 (13.9%) additional candidates self-selected out of the program. Of the 33 disqualified applicants, 66.7% had abnormal psychological testing and 39.4% had abnormal clinical interviews. Additional reasons for disqualification included inability to manage longterm demands as a donor, family history of psychopathology, and suspected substance use. Discussion: Implementation of psychological evaluations in the donor application process at one major sperm bank led a number of donors to be disqualified, primarily due to abnormal psychological testing or clinical interviews. Others withdrew from the donation process after discussing the complexities of becoming a sperm donor with MHPs. As anonymity in gamete donation becomes increasingly improbable, it is critical for candidate donors to better understand the process, and to manage possible contact with donor-conceived persons

Sperm donor attitudes and experiences on direct-to-consumer genetic testing

Introduction: Direct-to-consumer (DTC) genetic testing provides a way for genetically linked persons to connect, threatening the anonymity promised by sperm banks to past sperm donors. This study will assess whether these testing resources have changed attitudes of previous donors on donation and their likelihood to donate again. Methods: A cross-sectional survey was distributed to sperm donors between 1980 and 2020 at Fairfax Cryobank, measuring variables including demographics and donor attitudes on DTC testing. The Qualtrics survey platform aggregated responses and descriptive statistics were used to report outcomes. Results: Of the 364 responses, 72.8% of donors had not participated in DTC genetic testing, only 13.4% of which responded was due to not wanting themselves identifiable to potential donor conceived offspring. Of the donors who were contacted by offspring, 56.3% were identified via DTC testing databases. Despite this fact, a majority of respondents (31.3%) reported being neither comfortable nor uncomfortable with testing companies sharing the identity of genetically related persons, with only 19.9% being extremely comfortable and 12.1% being extremely uncomfortable. Notably, 62.1% of donors would donate sperm again knowing their anonymity is no longer guaranteed. Discussion: Results suggest that the prevalence of DTC genetic testing has not significantly impacted attitudes towards donation, and that most donors would likely donate again. The inquiry question was answered but the hypothesis was disproven, as a more negative response to testing was expected. While some respondents did feel strongly against donation without guaranteed anonymity, sperm banks can rest assured that donor numbers will not significantly decrease with this resource

Sperm donor attitudes and experiences with direct-to-consumer genetic testing.

OBJECTIVE: To identify factors influencing sperm donor willingness to participate in direct-to-consumer genetic testing, comfort with sharing genetically identifiable data in commercial genetic testing databases, and likelihood to donate sperm again. DESIGN: Cross-sectional online anonymous survey. SETTING: Multicenter, 2 large American sperm banks from July 1, 2020 to July10, 2021. PATIENTS: Sperm donors from 1980 to 2020. INTERVENTIONS: None. MAIN OUTCOME MEASURES: Associations between donor demographic characteristics, donation history, and attitudes toward direct-to-consumer genetic testing. RESULTS: A total of 396 donors completed the survey. Most donations (61.5%) occurred from 2010 to 2020, and 34.3% were nonidentified donations. Nonidentified donors were less comfortable with their genetic data being shared than open-identity donors (25.4% vs. 43.8%) and were less likely than open-identity donors to donate sperm again (43.3% vs. 72.1%). Donors who donated after the inception of direct-to-consumer genetic testing in 2007 were less likely to participate in commercial genetic testing than those who donated before 2007 (25.8% vs. 37.1%). Most donors (87.4%) have disclosed their donation(s) to current partners, but fewer have disclosed them to their families (56.6%) or children (30.5%). Of the donors who had been contacted by donor-conceived persons, 79.5% were identified via direct-to-consumer genetic testing. Overall, 61.1% of donors would donate again regardless of direct-to-consumer genetic testing. CONCLUSIONS: Direct-to-consumer genetic testing is playing a dynamic role in sperm donor identification, but donors seem willing to donate again. Implication counseling regarding future linkage and contact from donor-conceived persons needs to be standardized for potential donors before donation

Mucolipidosis II presenting as severe neonatal hyperparathyroidism

Mucolipidosis II (ML II or I-cell disease ) (OMIM 252500) is an autosomal recessive lysosomal enzyme targeting disorder that usually presents between 6 and 12 months of age with a clinical phenotype resembling Hurler syndrome and a radiological picture of dysostosis multiplex. When ML II is severe enough to be detected in the newborn period, the radiological changes have been described as similar to hyperparathyroidism or rickets. The biological basis of these findings has not been explored and few biochemical measurements have been recorded. We describe three unrelated infants with ML II who had radiological features of intrauterine hyperparathyroidism and biochemical findings consistent with severe secondary neonatal hyperparathyroidism (marked elevation of serum parathyroid hormone and alkaline phosphatase levels). The vitamin D metabolites were not substantially different from normal and repeatedly normal calcium concentrations excluded vitamin D deficiency rickets and neonatal severe hyperparathyroidism secondary to calcium-sensing receptor gene mutations (OMIM 239200). The pathogenesis of severe hyperparathyroidism in the fetus and newborn with ML II is unexplained. We hypothesize that the enzyme targeting defect of ML II interferes with transplacental calcium transport leading to a calcium starved fetus and activation of the parathyroid response to maintain extracellular calcium concentrations within the normal range. Conclusion: Newborns with mucolipidosis II can present with radiological and biochemical signs of hyperparathyroidism. Awareness of this phenomenon may help in avoiding diagnostic pitfalls and establishing a proper diagnosis and therap

Accuracy of preimplantation genetic screening (PGS) is compromised by degree of mosaicism of human embryos

Background To preclude transfer of aneuploid embryos, current preimplantation genetic screening (PGS) usually involves one trophectoderm biopsy at blastocyst stage, assumed to represent embryo ploidy. Whether one such biopsy can correctly assess embryo ploidy has recently, however, been questioned. Methods This descriptive study investigated accuracy of PGS in two ways. Part I: Two infertile couples donated 11 embryos, previously diagnosed as aneuploid and, therefore, destined to be discarded. They were dissected into 37 anonymized specimens, and sent to another national laboratory for repeat analyses to assess (i) inter-laboratory congruity and (ii) intra-embryo congruity of multiple embryo biopsies in a single laboratory. Part II: Reports on human IVF cycle outcomes after transfer of allegedly aneuploid embryos into 8 infertile patients. Results Only 2/11 (18.2 %) embryos were identically assessed at two PGS laboratories; 4/11 (36.4 %), on repeat analysis were chromosomally normal, 2 mosaic normal/abnormal, and 5/11 (45.5 %) completely differed in reported aneuploidies. In intra-embryo analyses, 5/10 (50 %) differed between biopsy sites. Eight transfers of previously reported aneuploid embryos resulted in 5 chromosomally normal pregnancies, 4 delivered and 1 ongoing. Three patients did not conceive, though 1 among them experienced a chemical pregnancy. Conclusions Though populations of both study parts are too small to draw statistically adequately powered conclusions on specific degrees of inaccuracy of PGS, here presented results do raise concerns especially about false-positive diagnoses. While inter-laboratory variations may at least partially be explained by different diagnostic platforms utilized, they cannot explain observed intra-embryo variations, suggesting more frequent trophectoderm mosiaicsm than previously reported. Together with recentl published mouse studies of lineages-specific degrees of survival of aneuploid cells in early stage embryos, these results call into question the biological basis of PGS, based on the assumption that a single trophectoderm biopsy can reliably determine embryo ploidy