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#1
Research / Psychosocial outcomes of child...
Last post by mensfe_admin - 2024-02-21 11:23

Salomeh Salari, Seungho Lee, Joshua Mangels, Rebecca Flyckt, Jody Madeira, John Gordon, Jeffrey Keenan, Miryoung Lee, Paul Lin, Guido Pennings ... Show more
Human Reproduction, deae023, https://doi.org/10.1093/humrep/deae023
Published: 19 February 2024 Article history
 
Abstract
STUDY QUESTION
What are parents' perceptions of their relationships with and the psychosocial adjustments of their children who are born via embryo donation?

SUMMARY ANSWER
Families created through embryo donation have well-adjusted parent–child relationships and reassuring child psychosocial outcomes.

WHAT IS KNOWN ALREADY
Embryo donation is an effective and growing form of third-party reproduction, but there is limited research in this field. Prior studies suggest that families created through gamete donation function well regarding parent–child relationship quality and child behavioral and socioemotional adjustment.

STUDY DESIGN, SIZE, DURATION
This is a cross-sectional survey study with 187 total participants.

PARTICIPANTS/MATERIALS, SETTING, METHODS
Parents of children born via embryo donation were recruited nationally by contacting all embryo donation programs registered with the Society for Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS) as well as medically directed embryo donation or 'embryo adoption' centers. Participants completed three online Qualtrics questionnaires. The first was a survey including 33 questions on demographics, the procurement process, and self-reported obstetric outcomes. Participants also completed two standardized measures assessing children's behavior and parents' adjustment to parenthood: the Strengths and Difficulties Questionnaire (SDQ) and the Parental Acceptance-Rejection Questionnaire (PARQ). Scoring of the SDQ and PARQ was totaled and compared to standardized values (SDQ) or previously published results on other forms of gamete donation (PARQ), such as oocyte donation and sperm donation.

MAIN RESULTS AND THE ROLE OF CHANCE
On the SDQ (n = 46), the average total difficulties scores by age were: 8.2 ± 0.98 for ages 2–4, 7.6 ± 0.93 for ages 5–10, and 3.5 ± 0.77 for ages 11–17; this is compared to the normal reported range of 0–13, which indicates that clinically significant psychosocial problems are unlikely. Across all ages and individual categories (emotional symptoms, conduct problem, hyperactivity, peer problem, prosocial), scores on the SDQ were within the normal ranges. The average PARQ score (n = 70) for all respondents was 27.5 ± 1.18 (range: 24–96), suggesting perceived parental acceptance.

LIMITATIONS, REASONS FOR CAUTION
Because this study was cross-sectional, it could not capture familial relationships over time. This survey-based study design allows for potential selection bias (parents of well-adjusted children may be more likely to participate). Additionally, the overall sample size is relatively small; however, it remains one of the largest published to date. Another significant limitation to this study is the lack of generalizability: most participants were recruited from private, faith-based, embryo donation programs who are demographically similar.

WIDER IMPLICATIONS OF THE FINDINGS
Though embryo donation is an established form of third-party reproduction, it is significantly less robustly studied compared to other forms of gamete donation (oocyte or sperm donation). This study provides a larger data set with a more expanded age range of children compared to the limited number of previously published studies. Furthermore, these findings indicate a high parental disclosure rate with respect to the use of embryo donation which contrasts previous findings.

STUDY FUNDING/COMPETING INTEREST(S)
No external funding source was utilized for the completion of this study. No conflicts are disclosed.
#2

Salomeh Salari, Seungho Lee, Joshua Mangels, Rebecca Flyckt, Jody Madeira, John Gordon, Jeffrey Keenan, Miryoung Lee, Paul Lin, Guido Pennings ... Show more
Human Reproduction, deae023, https://doi.org/10.1093/humrep/deae023

Published: 19 February 2024 Article history
 
Abstract
STUDY QUESTION
What are parents' perceptions of their relationships with and the psychosocial adjustments of their children who are born via embryo donation?

SUMMARY ANSWER
Families created through embryo donation have well-adjusted parent–child relationships and reassuring child psychosocial outcomes.

WHAT IS KNOWN ALREADY
Embryo donation is an effective and growing form of third-party reproduction, but there is limited research in this field. Prior studies suggest that families created through gamete donation function well regarding parent–child relationship quality and child behavioral and socioemotional adjustment.

STUDY DESIGN, SIZE, DURATION
This is a cross-sectional survey study with 187 total participants.

PARTICIPANTS/MATERIALS, SETTING, METHODS
Parents of children born via embryo donation were recruited nationally by contacting all embryo donation programs registered with the Society for Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS) as well as medically directed embryo donation or 'embryo adoption' centers. Participants completed three online Qualtrics questionnaires. The first was a survey including 33 questions on demographics, the procurement process, and self-reported obstetric outcomes. Participants also completed two standardized measures assessing children's behavior and parents' adjustment to parenthood: the Strengths and Difficulties Questionnaire (SDQ) and the Parental Acceptance-Rejection Questionnaire (PARQ). Scoring of the SDQ and PARQ was totaled and compared to standardized values (SDQ) or previously published results on other forms of gamete donation (PARQ), such as oocyte donation and sperm donation.

MAIN RESULTS AND THE ROLE OF CHANCE
On the SDQ (n = 46), the average total difficulties scores by age were: 8.2 ± 0.98 for ages 2–4, 7.6 ± 0.93 for ages 5–10, and 3.5 ± 0.77 for ages 11–17; this is compared to the normal reported range of 0–13, which indicates that clinically significant psychosocial problems are unlikely. Across all ages and individual categories (emotional symptoms, conduct problem, hyperactivity, peer problem, prosocial), scores on the SDQ were within the normal ranges. The average PARQ score (n = 70) for all respondents was 27.5 ± 1.18 (range: 24–96), suggesting perceived parental acceptance.

LIMITATIONS, REASONS FOR CAUTION
Because this study was cross-sectional, it could not capture familial relationships over time. This survey-based study design allows for potential selection bias (parents of well-adjusted children may be more likely to participate). Additionally, the overall sample size is relatively small; however, it remains one of the largest published to date. Another significant limitation to this study is the lack of generalizability: most participants were recruited from private, faith-based, embryo donation programs who are demographically similar.

WIDER IMPLICATIONS OF THE FINDINGS
Though embryo donation is an established form of third-party reproduction, it is significantly less robustly studied compared to other forms of gamete donation (oocyte or sperm donation). This study provides a larger data set with a more expanded age range of children compared to the limited number of previously published studies. Furthermore, these findings indicate a high parental disclosure rate with respect to the use of embryo donation which contrasts previous findings.

STUDY FUNDING/COMPETING INTEREST(S)
No external funding source was utilized for the completion of this study. No conflicts are disclosed.
#3
Research / Semen microbiome linked to spe...
Last post by mensfe_admin - 2024-01-23 15:40


by Dr Semyon Bodian

Semen microbiome composition has been associated with sperm abnormalities, in a study of men in the United States.

Scientists from the University of California, Los Angeles (UCLA) were able to correlate the levels of different bacteria in semen with both sperm motility and concentration. Little research has investigated the links between the semen microbiome and resulting sperm abnormalities and, thus, potential effects on male fertility. Meanwhile there has been focus on the vaginal microbiome and its impact on reproductive and neonatal outcomes.

'There is much more to explore regarding the microbiome and its connection to male infertility. However, these findings provide valuable insights that can lead us in the right direction for a deeper understanding of this correlation' said Dr Vadim Osadchiy, study lead author and resident in the Department of Urology at UCLA, California.

Two genera of bacteria whose levels correlated to sperm abnormalities were identified. Semen with higher levels of Lactobacillus iners were linked with abnormally lower levels of sperm motility. Three species from the Pseudomonas genus, P. flourescens, P. stutzeri and P. putida, were linked to sperm concentration. Semen with higher levels of P. fluorescens and P. stutzeri were associated with abnormally lower sperm concentration. However, such concentrations were also associated with lower quantities of P. putida.

A potential link between L. iners and lower sperm motility may result from the bacteria's production of the L-lactic acid isomer, which is associated with increased inflammation of the local environment. The study's authors were keen to underline that these findings do not indicate causation of infertility or sperm abnormalities and are purely observations which could aid in the understanding of the mechanisms of infertility and sperm abnormalities.

The study, published in Scientific Reports, examined the semen from 73 men who were receiving consultation for either fertility treatment or vasectomies, with the latter having proven biological paternity. The subjects' semen was analysed using both a calibrated automated semen analyser and a high-powered microscopy. DNA was extracted from the semen, amplified and then sequenced to study the sperms' ribosomal RNA.

Results were adjusted for age, BMI, circumcision status, smoking, and alcohol intake history, but the study was limited by the limited range of socioeconomic status of the study participants, sourced from the same geographical location. In addition, antibiotic use or treatment for genitourinary infections was not accounted for, as was neither information regarding the participant's sexual behaviour nor the use or mode of contraception. A man's semen microbiome could be affected through different sexual activities and interactions with other bodily microbiomes, such as the urethra.

'Our research aligns with evidence from smaller studies and will pave the way for future, more comprehensive investigations to unravel the complex relationship between the semen microbiome and fertility,' said Dr Osadchiy.

Reviews
#4

Semen microbiome composition has been associated with sperm abnormalities, in a study of men in the United States.

Scientists from the University of California, Los Angeles (UCLA) were able to correlate the levels of different bacteria in semen with both sperm motility and concentration. Little research has investigated the links between the semen microbiome and resulting sperm abnormalities and, thus, potential effects on male fertility. Meanwhile there has been focus on the vaginal microbiome and its impact on reproductive and neonatal outcomes.

'There is much more to explore regarding the microbiome and its connection to male infertility. However, these findings provide valuable insights that can lead us in the right direction for a deeper understanding of this correlation' said Dr Vadim Osadchiy, study lead author and resident in the Department of Urology at UCLA, California.

Two genera of bacteria whose levels correlated to sperm abnormalities were identified. Semen with higher levels of Lactobacillus iners were linked with abnormally lower levels of sperm motility. Three species from the Pseudomonas genus, P. flourescens, P. stutzeri and P. putida, were linked to sperm concentration. Semen with higher levels of P. fluorescens and P. stutzeri were associated with abnormally lower sperm concentration. However, such concentrations were also associated with lower quantities of P. putida.

A potential link between L. iners and lower sperm motility may result from the bacteria's production of the L-lactic acid isomer, which is associated with increased inflammation of the local environment. The study's authors were keen to underline that these findings do not indicate causation of infertility or sperm abnormalities and are purely observations which could aid in the understanding of the mechanisms of infertility and sperm abnormalities.

The study, published in Scientific Reports, examined the semen from 73 men who were receiving consultation for either fertility treatment or vasectomies, with the latter having proven biological paternity. The subjects' semen was analysed using both a calibrated automated semen analyser and a high-powered microscopy. DNA was extracted from the semen, amplified and then sequenced to study the sperms' ribosomal RNA.

Results were adjusted for age, BMI, circumcision status, smoking, and alcohol intake history, but the study was limited by the limited range of socioeconomic status of the study participants, sourced from the same geographical location. In addition, antibiotic use or treatment for genitourinary infections was not accounted for, as was neither information regarding the participant's sexual behaviour nor the use or mode of contraception. A man's semen microbiome could be affected through different sexual activities and interactions with other bodily microbiomes, such as the urethra.

'Our research aligns with evidence from smaller studies and will pave the way for future, more comprehensive investigations to unravel the complex relationship between the semen microbiome and fertility,' said Dr Osadchiy.

Reviews
#5
Research / Question research on people bo...
Last post by mensfe_admin - 2024-01-12 15:41
I found a report on the Human Fertilisation & Embryology Authority (HFEA) website that provides information on the trends in egg, sperm, and embryo donation over the last 30 years 1. The report reveals that over 70,000 donor-conceived children have been born since 1991, and the number of children born with the help of a donor has risen considerably since the 1990s, with over 4,100 children born in 2019 compared to around 2,500 in 1993 1.

The report also highlights the availability of donors, their changing characteristics, and how family formations have evolved 1. It shows that the number of children born from donor sperm more than tripled over the last 15 years, from under 900 in 2006 to over 2,800 in 2019 1.

Regarding your specific query, I could not find any research data on people born from donor gametes applying for information on their donors on the HFEA website. However, the HFEA website provides information on the rules around releasing donor information 2. If you donated after August 1, 1991, at a UK licensed clinic, you may wish to contact the HFEA to apply for information about the number of children born from your donation 2. If the donation or treatment took place before August 1991, you may wish to find out more information about the Donor Conceived Register 2
#6
Research / Single fathers experience of u...
Last post by mensfe_admin - 2024-01-12 15:30
Single fathers' experiences of using egg donation and surrogacy to start a family
C Jones 1 2, V Jadva 3, S Zadeh 4, S Golombok 2
Affiliations expand
PMID: 37528054 PMCID: PMC10546079 DOI: 10.1093/humrep/dead152
Free PMC article
Abstract
Study question: What are the experiences of single men using egg donation and surrogacy as a route to parenthood?

Summary answer: The fathers mainly had a positive relationship with the surrogate and simultaneously exercised agency, and experienced challenges, during the process of surrogacy.

What is known already: Little is known about single men's experiences of egg donation and surrogacy arrangements. Studies have focused on single men's decision-making processes about the use of surrogacy and family functioning once these families are formed. Questions remain about how fathers experience and navigate the process of surrogacy as a single man.

Study design, size, duration: The study is an international, in-depth qualitative study of fathers who chose to begin a family and parent alone. Data were collected between 2018 and 2021 as part of a larger study of solo fathers with different routes to parenthood. The present study reports on 21 fathers who used surrogacy and egg donation to begin their family. The average age of the fathers was 44 years, the fathers had young children aged 6 years or younger, and lived in countries across Australia, Europe, and North America.

Participants/materials, setting, methods: Purposive sampling was used to recruit participants. In-depth semi-structured interviews were conducted. Interview topics included fathers' experiences of the process of using egg donation and surrogacy, and navigating the relationship with the surrogate. The audio-recorded interviews lasted around 2 hours and were subsequently transcribed verbatim.

Main results and the role of chance: Data were analysed using reflexive thematic analysis and qualitative content analysis. Most of the fathers chose an identifiable egg donor. Regarding the relationship with the surrogate, many fathers had remained in contact with her, but to differing degrees, and they generally reported positive relationships. Thematic analysis led to the identification of three themes relating to the fathers' experiences of choosing surrogacy as a single man: the ability to make choices; challenges and constraints; and special relationship.

Limitations, reasons for caution: Due to the variation between different countries regarding laws on surrogacy, contextual factors may have impacted on the experiences of single fathers, and the sample size was small. However, the research provides new insights into an area with little academic literature.

Wider implications of the findings: Given the growing trend of single men having children through surrogacy, the findings suggest that this new path to parenthood can be both rewarding and challenging. Single men may benefit from tailored support and counselling to help them navigate the surrogacy journey.

Study funding/competing interest(s): This study was funded by the Wellcome Trust (grant number 208013/Z/17/Z). The authors have no conflicts of interest to declare.

Trial registration number: n/a.

Keywords: egg donation; experiences; qualitative research; single fathers; surrogacy.

© The Author(s) 2023. Published by Oxford University Press on behalf of European Society of Human Reproduction and Embryology.

PubMed Disclaimer
#7
General Discussion / HFEA Donor Identifiability
Last post by mensfe_admin - 2023-11-29 16:18
Donor identifiability

Nowhere in this field has the pace of social and technological change been more rapid than in the growing popularity of direct-to-consumer DNA testing and social media. This has had a significant impact on donor identifiability such that the current system, where identifiable information about a donor can only be disclosed to the donor-conceived person at 18 and only upon request no longer reflects reality.

The HFEA is recommending that the law be changed so that parents can find out who a donor is from the birth of a child, and also that clinics should be required by law to inform donors and recipients of the potential for a donor's identity to be discovered through means such as DNA testing websites or social media.

There has understandably been a great deal of media attention on our proposals around donor identifiability. We know the proposals are a significant departure from the current law, and we are recommending a gradual approach to reach this position by having in-depth discussions with a wide range of stakeholders, including professional bodies, patient and donor groups, donors and donor-conceived individuals, and licensed centres within the fertility sector.

Any new system should uphold the principles that there be an official 'record of truth', and the law should require the HFEA to collect data about children born through donation.
#8
Pandora's box: Implications of surrogacy law reform proposals for birth registration
by Professor Thérèse Callus

The long-awaited report on reform of surrogacy laws from the Law Commission of England and Wales and the Scottish Law Commission has generally been welcomed, and offers many improvements on the current position in the UK, which affects 400-500 babies per year. The wide-ranging and sensitive report is informed by research findings on the experiences of those most involved in surrogacy, including the children.

Notwithstanding the progressive proposals, much in the report remains to be clarified.

One problematic issue is that concerning birth registration, and the Law Commissions themselves were unable to propose one single option for this, instead offering a choice between a preferred or an alternative model.

The preferred option would require an amendment to the existing civil registration rules to enable the intended parents to be registered as the legal parents from birth. The alternative option would initially see the surrogate registered as the mother but disassociated from legal parental status. Provided the surrogate does not withdraw her consent during the first six weeks post birth, there would then be an automatic amendment to replace the original birth certificate with a parental order indicating the intended parents as the legal parents of the child. The original birth certificate would then be sealed.

Birth registration has long been identified as an area ripe for reform itself, but nothing came of the proposal to include it as part of the Law Commission of England and Wales' 13th Programme of Reform (see BioNews 873).

The current law requires the mother to be identified on the certificate, and the legal mother is defined for such purposes as the person who gives birth. This was confirmed by the Court of Appeal in the McConnell case where a birthing parent who is a transgender man was held to be the legal mother – not the father – for purposes of birth registration, due to the biological process of gestation and childbirth he had been through (see BioNews 1017).

Given that the Law Commissions propose that the surrogate will no longer automatically be the legal mother at birth, this raises the question of how the baby's birth registration will reflect the legal parenthood under the new surrogacy pathway.

The Law Commissions' preferred approach would enable the intended parents to be recognised as the parents on the birth certificate. The surrogate would be registered on the surrogacy register and reference to this would appear in the child's long birth certificate. But this contravenes the current requirement to identify the birthing parent as the legal mother.

The alternative option would follow the current rules to indicate the surrogate as the mother on the birth certificate but it is proposed that she would not be a legal parent. This would result in a change to the consequences of birth registration as it would separate the fact of the birth 'mother' (the surrogate) from legal parental status.

It is clear that there are problems with both options.

The alternative approach conflicts with the core proposal of negating the status of the surrogate as the mother. It may also create confusion for those treating the baby for example, as the intended parents would be the legal parents and therefore be the ones to consent to medical intervention if necessary because the mother would not have any legal status. Although this approach would comply with the current registration requirements of identifying the birth 'mother' on the birth certificate, there would still be a discrepancy with respect to disassociation with the status of legal parent.

The preferred option flows naturally from the proposal to recognise the intended parents as the legal parents from birth, but would require reform to the existing procedure because it denies the appearance of the person who birthed the child on their birth certificate.

So what is the appropriate solution? Irrespective of which option (if any) is chosen, reform to the registration system will be required. It is therefore crucial that we ask ourselves what do we want birth registration to do?

According to the 2002 White Paper on Civil Registration, part of its purpose is to record 'evidence of parentage' which suggests biological parentage. However, we know that parentage has evolved to include parenthood.

Parenthood is the legal parental status of those either with a genetic link, or through statutory recognition of the intention to be legal parents in the context of assisted conception using donor gametes (under the HFE Act 2008) or through adoption (Adoption and Children Act 2002). It is therefore certainly time to rethink what we are registering and why.

It may be helpful to get back to basics and ask should birth registration be purely a historical record of the birth of a child? Could birth registration distinguish between on the one hand, biological 'parents' (gamete donors, the surrogate) and on the other hand, the intended legal parents who assume all legal responsibility for the child? In non-assisted conception cases, the two may well be the same, but where recourse to a third party is involved, it would better reflect both the legal and genetic truths. It would also go some way to encouraging transparency in all donor-assisted conceptions which has been identified as positive for families and long called for. This is where the current system of creating a short and a long birth certificate could be helpful.

Concerns as to privacy surrounding the conception and genetic make-up of a child could be addressed by a short birth certificate indicating the historical fact of the birth of the child and their own name, with no reference to the parents. Only the long birth certificate would contain reference to both the legal parents and any link to a donor or surrogate register where necessary. The additional question of the age at which a child may access such registers remains to be addressed: it is yet another element in the Pandora's box that surrogacy offers.

Notwithstanding the remaining questions, the Law Commissions' proposals are a positive step towards much-needed reform. Now we need the Government (and public) to be responsive to change. Surrogacy may only affect a relatively small proportion of society, but the wider question of parental status and individual identity it creates affects us all.
#9
Research / Your Guide to Genetics and Gen...
Last post by mensfe_admin - 2023-01-25 14:18




by Dr Jess Buxton

The Progress Educational Trust (PET), in partnership with the Scottish Government, brought together a group of experts to cut through the hype and jargon and explain the latest developments in genetics/genomics in the context of assisted conception...RCOG and HFEA voice concerns over NHS gynaecology waiting times (progress.org.uk)

PET director, Sarah Norcross, chairing, began by highlighting the general need for more information about developments in this fast-moving area of science. Last year, PET commissioned a survey of the UK public to measure people's understanding of, and attitudes towards, areas of science and medicine including genetics and genomics. In the subsequent report 'Fertility, Genomics and Embryo Research: Public Attitudes and Understanding', 33 percent of respondents chose the option 'don't know' when asked to describe the term 'human genome'.

The first speaker was Dr Jonathan Berg, consultant clinical geneticist at NHS Tayside and clinical senior lecturer at the University of Dundee. He explained that the human genome contains around three billion DNA base-pairs. If each of these were a single letter, then this 'book' of our genetic information would be equivalent to around 6000 copies of Tolstoy's 'War and Peace'. Identifying the single genetic variant that causes a genetic condition can be challenging, and he stressed the importance of knowing where to look – and of knowing what is being tested for before a test is arranged.

Dr Berg described some examples of monogenic conditions that can potentially be detected in the embryo using preimplantation genetic testing (PGT-M, previously known as preimplantation genetic diagnosis), as the specific genes involved are known. These include achondroplasia, cystic fibrosis and Duchenne muscular dystrophy (DMD) (a full list of the conditions for which the use of PGT-M is currently approved in the UK is available here).

Not all genetic variants are inherited from a parent: 'de novo' variants are novel genetic changes that appear for the first time in the egg cell, sperm or early embryo. Variants of this type are responsible for over 40 percent of previously undiagnosed cases of severe development delay. Dr Berg said that although prenatal genetic testing is just becoming available in the UK for such cases, PGT-M is not available unless there is a family history of the condition being tested for.

Dr Nicola Williams, consultant clinical scientist at NHS National Services Scotland's Strategic Network for Genomic Medicine, then gave a talk on PGT provision in Scotland. She started by explaining how cells are removed from the embryo in order to carry out a genetic test. The preferred time to carry out this embryo biopsy is on day five, when the embryo is at the blastocyst stage and several cells can be removed. She went on to describe the difference between PGT-M for monogenic conditions and PGT-SR, which can be used to detect chromosome structural rearrangements.

Dr Williams explained that when PGT-M is performed, genetic markers are currently used to identify the 'high-risk' chromosome that carries the gene variant responsible for the condition. This approach requires testing other family members, including grandparents if possible. She showed the results for a PGT-M test carried out for a condition with an autosomal dominant inheritance pattern, in which half of the six embryos tested were identified as 'high-risk' and the other three were 'low-risk'. Dr Williams said there is now a move towards using whole-genome sequencing (WGS) when testing for monogenic conditions, which would identify the genetic variant directly.

The next speaker was Professor Zosia Miedzybrodzka, director of the University of Aberdeen's Centre for Genome-Enabled Biology and Medicine and service clinical director of genetics at NHS Grampian. Her talk focused on carrier screening for genetic conditions, which can identify unaffected carriers of autosomal recessive genetic conditions, either antenatally or pre-conception. She explained that in the UK, such testing is only carried out routinely for the inherited blood disorders sickle cell disease and thalassaemia. Additional carrier testing is carried out in sperm and egg donors, for example for cystic fibrosis and chromosome structural rearrangements.

Professor Miedzybrodzka went on to discuss expanded carrier testing, a commercial service in which many more genetic conditions are tested for (typically 400 or more). She stressed that this approach wouldn't detect de novo genetic variants, chromosomal disorders, or non-genetic conditions.

This approach also raises broader questions about what to screen for. What counts as serious? Should adult-onset disorders be tested, as well as those present from childhood? And what if donors find out they have a condition of which they were not previously aware?

Professor Miedzybrodzka also highlighted the challenges of interpreting genomic information and implementing the findings, areas currently affected by a skills shortage. She gave the example of a DMD gene variant identified in a fetus, which was wrongly classified as harmful. The same variant was discovered in two healthy brothers in the same family. Given these problems of delivery, implementation and effectiveness, she explained, expanded carrier testing is not currently part of NHS services.

The final speaker was Dr Francesca Forzano, a consultant in clinical genetics at Guy's Hospital, and honorary senior lecturer at King's College London. She is also chair of the Public and Professional Policy Committee of the European Society of Human Genetics, and lead author of this Committee's statement on the use of polygenic risk scores (PRSs) in PGT (see BioNews 1130 and 1137). Her talk covered the potential use of PRSs in embryos to assess the likelihood of common diseases or traits in adulthood.

Dr Forzano outlined the limitations of PRSs, which are constructed by testing hundreds of variants associated with risk of a common, complex disease. However, such conditions are the result of interactions between genetic predisposition, environmental factors and lifestyle choices – and a PRS will only capture part of the genetic component.

Another issues with PRSs highlighted by Dr Forzano is that a relative rather than an absolute risk is calculated. For example, a PRS for schizophrenia could identify a subset of the population who have 50 percent less risk, however this would still be an overall risk of 0.5 percent compared to one percent. Furthermore, most genetic variants associated with common disorders have been identified in European populations, so may be inaccurate in people of non-European descent.

In addition to these limitations, a PRS could be affected by variants with opposite or multiple associations, and would be confounded by the presence of a single genetic variant that greatly affected risk. Dr Forzano concluded that the clinical utility of PRS remains to be demonstrated, and they are certainly not yet validated for use in relation to embryos. She cautioned that PGT for polygenic risk (PGT-P) is not a diagnostic or a screening test, and no guidelines or best practice have been established.

A wide-ranging audience Q&A session followed the presentations, which included a discussion of controversies surrounding PGT for aneuploidy (PGT-A, previously known as PGS), which is not currently available via the NHS, and the fact that PRSs have potential applications that go beyond disease and risk. Speakers also signposted reliable sources for those seeking further information on the topics covered: PET, the HFEA, and the patient support organisations Unique and Genetic Alliance UK.
#10
Ana Vasconcelos

Fewer than one in 20 men who applied to become sperm donors in the USA and Denmark in 2018 and 2019, were accepted by a sperm bank, a recent study has shown.

The number of sperm-donor-conceived children born in the UK has tripled in the past 13 years in the UK, meaning demand for sperm donors outstrips supply. Recent figures from the Human Fertilisation and Embryology Authority show half of donor sperm used in the UK is imported, often from Denmark (see BioNews 1170). In a study published in Human Reproduction of over 11,000 men who applied to be sperm donors to the sperm and egg bank Cryos in the USA and Denmark, researchers looked at the points in the application process men dropped out or were rejected by the clinic. They also looked at the impact of being asked to waive anonymity on willingness to donate and acceptance.

Lead author – and Progress Educational Trust (PET) trustee – Professor Allan Pacey from the University of Sheffield, pointed out that although sperm donors can choose to retain their anonymity in the USA and Denmark (though not the UK since 2006), over a quarter of donors shifted from an initial decision to remain anonymous, to be identifiable, over the course of the donation process. He said: 'What's particularly fascinating is that more donors, who initially wanted to remain anonymous, were willing to be identifiable as the screening and donation process continued. This is particularly good news for patients in the UK undergoing fertility treatment, as it is a legal requirement for sperm donors to be identifiable to any children born from their donations.'

Around half of applicants dropped out or were rejected before being invited to provide a sperm sample, for the second stage of the application process, researchers found. Of the men who provided a sample 21 percent did not have a high enough quality semen, according to the clinic. Of men accepted after semen analysis and invited to complete a medical questionnaire, just 18 percent continued to the next stage.

A report published by PET in June 2022 Fertility, Genomics and Embryo Research: Public Attitudes and Understanding showed that 64 percent of the UK public would consider sperm or egg donation with identity release (see BioNews 1148).

Professor Pacey said: 'In the UK you can only become a donor if you agreed to be identifiable and there simply aren't enough guys in the UK that are willing to do that, or we haven't managed to tempt them enough, because we haven't got an advertising system that targets them.'

He went on: 'The study with Cryos highlights how hard it is to become a sperm donor. It's not like blood donation where once it's done you can have a cup of tea and go home. Sperm donation is a regular commitment with lots of screening and regular testing as well as life-long implications for the donor if any children are born from their sample.'

Gene activity and protein loca