A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 Deletion.

We performed a genetic investigation into the case of an inherited Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Our patients were an adolescent and her mother, both with MRKH syndrome. The delivery of a biological offspring was achieved via a gestational carrier. Karyotype and exome sequencing were used to complete a three-generation genetic analysis of the family. Both the mother and her daughter harbored a deletion of 4 Mb at the locus of 2q37, a syndrome rarely described in association with MRKH. No pathogenic single-nucleotide variant relevant to the phenotype was found. The deletion was not inherited from either parent of the mother. In addition, some physical findings suggesting 2q37 deletion syndrome were found in our patients. We conclude that when combined with the use of a gestational carrier or uterine transplantation, the identification of a genetic cause for MRKH may enable the application of preimplantation genetic testing on embryos, thus potentially averting the transmission of the genetic anomaly to subsequent generations.

Perspectives on uterine transplantation.

Uterine transplantation is a groundbreaking solution for absolute uterine factor infertility (AUFI), offering hope for motherhood. Advances in transplant surgeries and immunosuppressants have enabled thousands of women to safely become mothers. Approximately 1.5 million women globally suffer from AUFI and thus Uterine transplantation is a significant breakthrough in this arena. So far, 23 babies have been born from transplanted wombs. Uterine transplantation redefines possibilities for motherhood, empowering women's reproductive rights. Ethical considerations persist, but it marks significant progress in reproductive medicine and transplantation science. Further research is needed to evaluate risks and benefits for the future.

Fertility treatment, valuable life projects and social norms: In defence of defending (reproductive) preferences.

Fertility treatment enables involuntary childless people to have genetically related children, something that, for many, is a valuable life project. In this paper, I respond to two sets of objections that have been raised against expanding state-funded fertility treatment provision for existing treatments, such as in vitro fertilisation (IVF), and against funding new treatments, such as uterine transplantation (UTx). Following McTernan, I refer to the first set of objections as the 'one good among many' objection. It purports that it is unjustifiable for the state to prioritise the funding of the life project of becoming a parent through fertility treatment provision over the funding of other life projects that people might have. Following Lotz, I refer to the second set of objections as the 'norm-legitimation' objection. It maintains that the provision of costly forms of fertility treatment, such as UTx, would legitimise problematic social norms concerning genetic relatedness, reproduction and parenting, and that states should not engage in such a legitimation. In response to these objections, I defend the view that (reproductive) preferences ought to be taken more seriously when discussing fertility treatment provision and parental projects, and that not doing so can be costly, especially for women. The approach defended in this paper seeks to avoid disregarding and policing preferences and to reconcile their fulfilment with political projects aimed at improving the material and social conditions of sub-fertile people: people who, for social or biological reasons (or an intersection of the two), are unable to reproduce unassisted.

[Uterine transplantation, ethical and social aspects]. / Aspects éthiques et sociaux de la transplantation utérine.

Uterine transplantation is now a possible treatment for absolute uterine infertility. It is currently proposed to women with Mayer-Rokitansky-Küster-Hauser syndrome but indications will likely to expand in the upcoming years. Despite the progressive standardization of the surgical technique and the reduction in perioperative morbidity for both donors and recipients, the number of transplants performed worldwide remains very low compared to the number of women potentially in need. This is partly due to the singularity of uterine transplantation: the uterus is not a vital organ since one can live without a uterus. It is a temporary transplantation that is not performed to extend life but to improve its quality, responding above all to a desire to conceive and bear a child. Beyond the strictly technical aspect, these particularities raise many ethical questions, both on an individual and social level, which should make us question the real place uterine transplantation should take in our society. Answering these questions will allow us to provide better guidance for future eligible couples and to anticipate ethical problems on the long run.

Could IVF replace reproductive surgery? No, reproductive surgery is still very much alive.

Could IVF replace reproductive surgery? The answer is no. Reproductive surgery still has a place, at least in some indications that will be explored in this contribution. While IVF can offer infertile couples the chance to have a healthy baby, it should be acknowledged that reproductive surgery can heal or harm the organs where reproduction takes place. This paper reviews different diseases and conditions with an impact on fertility, which may benefit from the technological innovations of recent decades, novel applications and the skill of reproductive surgeons. Reproductive surgery is certainly not dead. It lives on with the promise of restoring the functional anatomy to enhance the chances of pregnancy. It is our responsibility to train young residents adequately in this field to provide the right treatment at the right time.

Summary of the ISFP congress, Brussels, 10-12 November, 2022.

The 7th International Congress of the ISFP was held in Brussels in November 2022. Hundreds of attendees from all over the world had the rare opportunity to hear the most distinguished leaders discuss and debate the latest advances in the field. Participants were also able to attend workshops under the guidance of skilled practitioners. Numerous topics were considered, including a recap on fertility preservation approaches in cancer and benign pathologies and a section on male factor infertility. Other aspects covered were in vitro maturation and poor responders, the impact of chemotherapy on the ovary, and future perspectives. Participants had the chance to listen to a symposium on fertility preservation techniques, and finally, a keynote lecture on fertility preservation in gynecological cancers brought this prominent and highly influential event to a close.

Uterine Transplantation and Fertility Preservation: A Hopeful Horizon for Cancer Survivors.

Uterine transplantation, a groundbreaking medical intervention, stands as a beacon of hope for cancer survivors grappling with the dual challenges of a cancer diagnosis and potential fertility loss due to aggressive treatments. This review provides a comprehensive exploration of uterine transplantation as an innovative solution for fertility preservation in the context of cancer survivorship. The multifaceted discussion encompasses the impact of cancer on fertility, the imperative of fertility preservation, and the evolution of uterine transplantation as a transformative procedure. The post-transplantation care section delves into the intricacies of recovery, the delicate balance of immunosuppressive therapy, and the ongoing support required for recipients to embrace the full spectrum of reproductive possibilities and overall well-being. Ethical considerations surrounding uterine transplantation, including donor selection, risk assessment, and societal perspectives, are critically examined to navigate the ethical landscape of this evolving field. In conclusion, uterine transplantation is presented as a medical breakthrough and a symbol of interdisciplinary collaboration, resilience, and unwavering hope. The review underscores the role of collaborative efforts among medical professionals, researchers, ethicists, and psychologists in advancing this transformative field. Looking to the future, uterine transplantation signifies a paradigm shift in fertility preservation, offering a tangible path toward parenthood for cancer survivors. The procedure, grounded in science, ethics, and compassion, illuminates the way forward, inspiring a future where fertility preservation becomes an attainable reality for those whose reproductive dreams were once compromised by cancer treatments.

Why uterine transplantation requires us to rethink the role of the pre-conception welfare principle.

Uterine transplantation (UTx) is a programme of treatment aimed at providing a unique solution to absolute uterine factor infertility, enabling patients to have children as a result of their own pregnancies. As a transplant procedure performed for fertility purposes it may be thought obvious that the welfare of any children created should be assessed prior to treatment provision. However, major concerns about the breadth and scope of such requirements, and the potential threat they pose to patients' reproductive autonomy, have been raised. In this paper, I analyse novel questions regarding the role of the pre-conception welfare principle in UTx. After outlining traditional critiques of the principle, I focus on the unique issues raised by its application in the two areas of medicine occupied by UTx. As a treatment for a particular form of infertility, I explore whether law and policy regulating traditional assisted reproductive technologies applies equally to the case of UTx, and whether a distinction (in welfare terms) does and should exist between fertility treatment involving gametes and embryos and gynaecological surgery for fertility purposes. As a quality-of-life-enhancing transplant, I consider and reject proposals in favour of using pre-conception welfare considerations to inform patient listing and the allocation of deceased donor uteri on the grounds that such assessments may both compromise patient autonomy and lead to unjust discrimination against particular patients or groups of patients.