Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects

Haskovic, Minela; Poot, W. J.; Golde, Ron J T van; Benneheij, S.H.; Oussoren, Esmée; Wert, G.M.W.R. de; Krumeich, Anja; Rubio-Gozalbo, M. Estela

doi:10.1007/s10545-018-0179-y

Cited by 6 publications

(7 citation statements)

References 26 publications

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“…If donors and recipients are known to each other (intra-familial donation, known or personal donor) counselling should cover clarifying everyone’s potential roles and discussing the boundaries between the donor and the recipient family ( Haskovic et al , 2018 ). In intra-familial donation, counselling should also explore whether donors (and recipients) are aware of the implications of cross-generational donation.…”

Section: Recommendations For Information Provision and Support For Do...mentioning

confidence: 99%

Good practice recommendations for information provision for those involved in reproductive donation†

Kirkman-Brown

Calhaz‐Jorge

Dancet

et al. 2022

Human Reproduction Open

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STUDY QUESTION What information and support should be offered to donors, intended parents and donor-conceived people, in general and in consideration of the availability of direct-to-consumer genetic testing and matching services? SUMMARY ANSWER For donors, intended parents and donor-conceived offspring, recommendations are made that cover information needs and informed consent, psychosocial implications and disclosure. WHAT IS KNOWN ALREADY Trends indicate that the use of donor-assisted conception is growing and guidance is needed to help these recipients/intended parents, the donors and offspring, navigate the rapidly changing environment in which donor-assisted conception takes place. STUDY DESIGN, SIZE, DURATION A working group (WG) collaborated on writing recommendations based, where available, on evidence collected from a literature search and expert opinion. Draft recommendations were published for stakeholder review and adapted where relevant based on the comments received. PARTICIPANTS/MATERIALS, SETTING, METHODS Papers retrieved from PUBMED were included from 1 January 2014 up to 31 August 2020, focusing on studies published since direct-to-consumer genetic testing has become more widespread and accessible. The current paper is limited to reproductive donation performed in medically assisted reproduction (MAR) centres (and gamete banks): donation outside the medical context was not considered. MAIN RESULTS AND THE ROLE OF CHANCE In total, 32 recommendations were made for information provision and support to donors, 32 for intended parents and 27 for donor-conceived offspring requesting information/support. LIMITATIONS, REASONS FOR CAUTION The available evidence in the area of reproductive donation is limited and diverse with regards to the context and types of donation. General conclusions and recommendations are largely based on expert opinion and may need to be adapted in light of future research. WIDER IMPLICATIONS OF THE FINDINGS These recommendations provide guidance to MAR centres and gamete banks on good practice in information provision and support but should also be considered by regulatory bodies and policymakers at a national and international level to guide regulatory and legislative efforts towards the protection of donors and donor-conceived offspring. STUDY FUNDING/COMPETING INTEREST(S) The development of this good practice paper was funded by European Society of Human Reproduction and Embryology (ESHRE), covering expenses associated with the WG meetings, the literature searches and dissemination. The WG members did not receive any payment. The authors have no conflicts of interest to declare. DISCLAIMER This document represents the views of ESHRE, which are the result of consensus between the relev...

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Section: Recommendations For Information Provision and Support For Do...mentioning

confidence: 99%

Good practice recommendations for information provision for those involved in reproductive donation†

Kirkman-Brown

Calhaz‐Jorge

Dancet

et al. 2022

Human Reproduction Open

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“…Intrafamilial oocyte donation is another approach to address subfertility in CG. Yet, several topics need to be discussed when considering this option, including the patient’s cognitive level, family relations, and medical impact [ 84 ]. As fertility preservation techniques often raise ethical questions, they should only be offered after appropriate institutional research ethics approval [ 82 ].…”

Section: Treatmentmentioning

confidence: 99%

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment

et al. 2022

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Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the inability to metabolize galactose, a sugar contained in milk (the main source of nourishment for infants), and convert it into glucose, the sugar used by the body as the primary source of energy. Galactosemia is an autosomal recessive genetic disease that can be diagnosed at birth, even in the absence of symptoms, with newborn screening by assessing the level of galactose and the GALT enzyme activity, as GALT defect constitutes the most frequent cause of galactosemia. Currently, galactosemia cannot be cured, but only treated by means of a diet with a reduced content of galactose and lactose. Although the diet is able to reverse the neonatal clinical picture, it does not prevent the development of long-term complications. This review provides an overview of galactose metabolism, molecular genetics, newborn screening and therapy of galactosemia. Novel treatments for galactosemia currently being investigated in (pre)clinical studies and potentially able to prevent long-term complications are also presented.

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“…Oocyte donation can be an option for women of advanced reproductive age with CG and POI in whom OTC is not feasible ( American Society for Reproductive Medicine, 2002 ). Haskovic et al (2018) studied intrafamilial oocyte donation (mother-to-daughter and sister-to-sister) and highlighted the important ethical aspects to be discussed, including family relations, medical impact, patients’ cognitive level, agreements to be made in advance and organization of counseling, disclosure to the child and the need for follow-up.…”

Section: Psychological Burden Counseling and Fertility Preservation I...mentioning

confidence: 99%

The hypergonadotropic hypogonadism conundrum of classic galactosemia

Derks

Rivera-Cruz

Hagen-Lillevik

et al. 2022

Human Reproduction Update

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BACKGROUND Hypergonadotropic hypogonadism is a burdensome complication of classic galactosemia (CG), an inborn error of galactose metabolism that invariably affects female patients. Since its recognition in 1979, data have become available regarding the clinical spectrum, and the impact on fertility. Many women have been counseled for infertility and the majority never try to conceive, yet spontaneous pregnancies can occur. Onset and mechanism of damage have not been elucidated, yet new insights at the molecular level are becoming available that might greatly benefit our understanding. Fertility preservation options have expanded, and treatments to mitigate this complication either by directly rescuing the metabolic defect or by influencing the cascade of events are being explored. OBJECTIVE AND RATIONALE The aims are to review: the clinical picture and the need to revisit the counseling paradigm; insights into the onset and mechanism of damage at the molecular level; and current treatments to mitigate ovarian damage. SEARCH METHODS In addition to the work on this topic by the authors, the PubMed database has been used to search for peer-reviewed articles and reviews using the following terms: ‘classic galactosemia’, ‘gonadal damage’, ‘primary ovarian insufficiency’, ‘fertility’, ‘animal models’ and ‘fertility preservation’ in combination with other keywords related to the subject area. All relevant publications until August 2022 have been critically evaluated and reviewed. OUTCOMES A diagnosis of premature ovarian insufficiency (POI) results in a significant psychological burden with a high incidence of depression and anxiety that urges adequate counseling at an early stage, appropriate treatment and timely discussion of fertility preservation options. The cause of POI in CG is unknown, but evidence exists of dysregulation in pathways crucial for folliculogenesis such as phosphatidylinositol 3-kinase/protein kinase B, inositol pathway, mitogen-activated protein kinase, insulin-like growth factor-1 and transforming growth factor-beta signaling. Recent findings from the GalT gene-trapped (GalTKO) mouse model suggest that early molecular changes in 1-month-old ovaries elicit an accelerated growth activation and burnout of primordial follicles, resembling the progressive ovarian failure seen in patients. Although data on safety and efficacy outcomes are still limited, ovarian tissue cryopreservation can be a fertility preservation option. Treatments to overcome the genetic defect, for example nucleic acid therapy such as mRNA or gene therapy, or that influence the cascade of events are being explored at the (pre-)clinical level. WIDER IMPLICATIONS Elucidation of the molecular pathways underlying POI of any origin can greatly advance our insight into the pathogenesis and open new treatment avenues. Alterations in these molecular pathways might serve as markers of disease progression and efficiency of new treatment options.

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Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects

Cited by 6 publications

References 26 publications

Good practice recommendations for information provision for those involved in reproductive donation†

Good practice recommendations for information provision for those involved in reproductive donation†

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment

The hypergonadotropic hypogonadism conundrum of classic galactosemia

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