bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic Counselling for PGT
Authors: Menezes Melody 
Published: January 2024

Preimplantation Genetic Testing for Monogenic Conditions (PGT-M) is increasingly becoming an important reproductive option for individuals and couples planning a pregnancy. In Australia, government funding for PGT-M came into effect in November 2021 and has improved accessibility for families with an increased chance of having a child with a single gene condition. Demand for PGT-M is expected to grow as genetic screening and testing become more widely utilised. In particular, the acceptability of PGT-M as a reproductive option for adult-onset conditions has led to increasing uptake compared to prenatal diagnosis. As indications for the use of PGT-M increase, there is increased complexity and ethical decision-making to balance the autonomy of individuals and the resulting offspring. Genetic counselling is integral in helping families make informed choices about whether to undergo PGT-M, and if so, how their testing strategy will be individualised to their individual needs. This presentation will use case studies to discuss the counselling and ethical considerations when offering PGT-M.
MitoHOPE: Embryological Aspects
Authors: Zander-Fox Deirdre 
Published: January 2024

Mitochondrial diseases are a group of rare genetic disorders that affect the function of mitochondria, the energy-producing structures within cells. These disorders result from mutations in either nuclear DNA or mitochondrial DNA (mtDNA), disrupting normal energy production process, with vital organs such as the brain, heart, muscles, and nervous system suffering from insufficient energy supply. Symptoms of mitochondrial disease are diverse however commonly include muscle weakness, fatigue, neurological issues, developmental delays, and organ dysfunction. Treatment options for mitochondrial disease are limited and primarily focus on managing symptoms and supporting affected organ systems. Currently, no cure exists, making early detection crucial to better manage the condition’s progression. Research efforts and advances in genetic technology offer hope for improved diagnostic methods and potential therapies in the future and for patients where the disease is caused by mutations in mtDNA, mitochondrial donation technology has also been developed in the hope of providing patients a means of having a family, with a reduced likelihood of passing on mtDNA disease to their offspring. Mitochondrial donation technology, also known as mitochondrial replacement therapy (MRT), is a ground-breaking medical technique designed to prevent the transmission of mitochondrial diseases from mother to child. This cutting-edge procedure involves replacing defective mitochondria in a woman’s egg with healthy mitochondria/cytoplasm from an egg donor using primarily either miotic spindle transfer (MST) or pro-nuclear transfer (PNT). Recently in Australia a MRFF grant has been awarded to facilitate bringing MRT to patients in Australia who have mtDNA disease and offering it as part of a clinical trial (mitoHOPE). As part of this, considerations must be given to how this technology is applied in a clinical IVF lab setting, specifically the equipment used, the technology that is selected (MST vs PNT) and optomised, the training of the clinical embryologists and the management of the oocyte donor program, all of which are crucial to ensure optimal clinical trial and technology provision.
Using Evolutionary Genomics to Discover Hormones and Receptors
Authors: Hsueh Aaron J. 
Published: January 2024

All human genes have undergone hundreds of millions of years of evolution to have today’s sequences and associated functions. At the same time, ligands and receptors have also undergone co-evolution. Evolutionary methods can be used to find ligands and receptors that have not yet been discovered, leading to new clinical diagnoses and treatments. This talk will deal with: 1. From the perspective of homologous genes and paralogous genes, the co-evolution of the glycoprotein hormone family, including FSH, LH, TSH, and hCG together with their receptors. 2. Create clinically useful long-acting FSH based on the evolutionary approach. 3. Use the evolution method to find five orphan LGR receptors, followed by the identification of receptors for the ligands, relaxin and INSL3, as well as the ligand for LGR4. 4. Use evolutionary methods to discover a new human placental hormone (placensin) and a new gonadal hormone in fish (gonacin), both with important metabolic functions. 5. Does the chicken or the egg come first during evolution? Which came first, the ligand or the receptor?
COVID-19 and Reproduction: An Experience from Wuhan
Authors: Qiao Jie 
Published: January 2024

The history of human social development is also the history of human struggle against infectious diseases. Up to now, COVID-19 pandemic worldwide has not ended yet, but since the early stage of the epidemic, the public and scientists have been very concerned about the impact of the virus on fertility. Wuhan, China is the first city to be hit by the COVID-19 epidemic in China. More than 344 medical teams (totaling 42000 medical team members) from other provinces in China concentrated their efforts to rescued Wuhan at that time. Regarding maternal health, the government, medical institutions, and experts strived to play their respective roles. They promptly announced the designated hospitals provide medical services for uninfected or suspected/infected pregnancy women; tried their best to ensure the demand and safety of medical treatment for pregnant and postpartum women; actively conducted scientific research on pregnant women and health status of offspring. Looking back on COVID-19 epidemic prevention and control in the past few years, we have gained a lot of experience and lessons. For example, all of us should strengthen the connections between various departments of the country, improve urban governance in response to major infectious diseases, accelerate the development of science and technology as well as enhance international cooperation. In the future, we will continue to coexist with pathogenic microorganisms on this Earth. Hope every battle against infectious diseases can promote us to have a deeper understanding of nature, technology, and social development, and accumulate more experience to support survivors live a better life.
New Technologies to Improve Embryo Assessment
Authors: Dunning Kylie 
Published: January 2024

Embryo quality is a key factor in determining whether an IVF cycle will result in a live birth. Current approaches for assessing embryo quality are subjective (morphology) or invasive (biopsy) and are not always predictive of live birth. Development of an accurate and non-invasive method to assess embryo quality would likely improve IVF success. We have taken a different approach towards developing a non-invasive diagnostic for embryo quality: optical imaging. We use low levels of light to illuminate the embryo and obtain spatial information on cell metabolism as well as biophysical properties of the embryo. Here I will present our work showing that hyperspectral imaging – captures natural autofluorescence emitted by the embryo – can be used to accurately discriminate between euploid and aneuploid mouse blastocysts (inner cell mass). Importantly, we show that this form of imaging is safe: compared to embryos that were not imaged, hyperspectral imaged embryos had similar, and not significantly different, pregnancy and implantation rates, with offspring weight at weaning also comparable. Another potential optical approach to assess embryo quality is digital holographic imaging. To date, little attention has been paid to the physical parameters of an embryo and whether these could be markers of embryo quality. One such physical parameter is refractive index. We have shown that digital holographic microscopy is able to measure very small changes in refractive index between good and poor-quality mouse embryos. Importantly, these optical approaches occur in the absence of stains or exogenous tags. Used alone, or in combination, such optical approaches may prove beneficial in developing to an accurate, non-invasive diagnostic for embryo quality.
When Should We Recommend Egg Freezing and When Is It Too Late?
Authors: Manalo Eileen 
Published: January 2024

Social oocyte freezing (SOF), a fast-growing field in ART is the elective cryopreservation of one’s own oocytes at a younger age when oocytes are of higher quality with the goal of prolonging a woman’s childbearing opportunity without any urgent medical reasons. The optimum age for SOF is said to be below the age of 35 years ( ASRM , 2013 ; ESHRE , 2012 ). SOF in women above 35 years of age is associated with lower post-thaw survival rates, a lower live birth rate per thawed oocyte, and an increased overall cost per livebirth as more cycles of oocyte freezing and thawing may be required. Beyond 42 years of age, SOF is unlikely to result in a livebirth due to suboptimal response to stimulation and a higher cycle cancellation rate ( ASRM , 2013 ; Doyle, et al. , 2016 ; Wennberg, et al. , 2019 ). The number of oocytes needed to freeze varies widely between studies but should be individualized according to the woman’s ovarian reserve as well as the IVF center’s own success rate data ( Teo, et al. , 2021 ). The utilization rate of frozen oocyte is low, ranging from 6 to 15%. The main reasons cited are a) women not wanting to start a family without a partner; b) preference for natural conception and, c) refusal to use a sperm donor ( Hammarberg, et al. , 2017 ). With the use of relatively safe IVF techniques and success rates similar to that of fresh oocytes, SOF has become an acceptable reproductive option for women today to extend their reproductive ability to achieve parenthood using their own eggs. It is, however, expensive and more than one cycle of oocyte freezing may be required to improve its efficacy. Thorough counselling must be done to advise women regarding the lack of robust evidence on its efficacy, long-term risks, and costs.
Sperm DNA Fragmentation: Causes, Effects and Relevance in IVF Outcomes
Authors: Chan David YL 
Published: January 2024

Sperm DNA fragmentation, characterized by damaged or broken DNA strands within sperm cells, has been recognized as an important factor in male infertility and poor ART outcome. This lecture aims to provide an overview of the causes, effects, and relevance of sperm DNA fragmentation in in vitro fertilization (IVF) outcomes and look into the latest evidences from the literatures. Causes: Sperm DNA fragmentation can result from various factors, including oxidative stress, advanced paternal age, lifestyle factors such as smoking and excessive alcohol consumption, environmental exposures, genotoxic agents, and underlying genetic abnormalities. These factors can induce DNA damage during sperm development, during the transit of sperm through the male reproductive tract or during the storage of the sperm in epididymis. Relevance in IVF Outcomes: The assessment of sperm DNA fragmentation has emerged as a valuable tool in evaluating male infertility and predicting IVF success. Several methods, including the sperm chromatin structure assay (SCSA), terminal deoxynucleotidyl transferase dUTP nick-end labelling (TUNEL), comet assay, and other commercial detection kits, are available to measure sperm DNA fragmentation. Previous small cohort studies have demonstrated that higher levels of sperm DNA fragmentation are associated with lower pregnancy rates, decreased embryo quality, and an increased risk of pregnancy loss in IVF cycles. Therefore, incorporating sperm DNA fragmentation analysis into the routine assessment of male infertility can aid in optimizing treatment strategies and improving IVF outcomes. Recent evidences: Latest large clinical studies showed a limited association to IVF outcome. The DFI remains controversial as a predictive tool. Nonetheless, sperm DNA fragmentation is still believed to be a significant factor affecting male fertility and IVF outcomes. Further research is warranted to explore the mechanisms underlying DNA fragmentation, develop standardized assessment methods, and explore potential interventions to mitigate the adverse effects of sperm DNA damage on IVF success.
How Far Should We Investigate the Male Causes in Unexplained Infertility?
Authors: Novero Virgilio 
Published: January 2024

According to a recent report by the Guideline Development Group of the ESHRE, the definition of Unexplained Infertility (UI) is ‘infertility in couples with apparently normal ovarian function, fallopian tubes, uterus, cervix and pelvis, age [Formula: see text]40 years and with adequate coital frequency; and apparently normal testicular function, genito-urinary anatomy and a normal ejaculate.’ This is anchored with the ICMART definition of infertility, where couples should have at least 12 months of regular, unprotected sexual intercourse before investigations are initiated. Since Unexplained Infertility is a diagnosis by exclusion, apart from evaluating female causes, it seems important that in evaluating male contributions to the UI, all necessary tests need to be carried out. Unfortunately, there are no robust standardized methods for establishing etiologic diagnosis in the male partner and that in some patients, underlying sperm dysfunction may not be detected during a routine assessment of the ejaculate, which may appear to be normal using the 2021 WHO standards. It is possible that some adverse reproductive outcomes that have been identified during medical and reproductive history examination may require the use of further tests procedures specified in the latest WHO manual to assess sperm function. However, these tests have a research status only or are not regarded for routine use in clinical practice until sound evidence is developed. These tests include testicular imaging, anti-sperm antibodies, sperm DNA fragmentation, sperm chromatin condensation, sperm aneuploidy screening, serum hormone testing, semen HPV testing, and semen microbiology testing all of which were found not routinely indicated based on current evidence when semen was found to be normal using the WHO 2021 semen standards. In summary, in evaluating male causes in unexplained infertility, there are no robust data to support the recommendation that additional tests about the male reproductive function may routinely be carried out when semen analysis based on the 2021 WHO standard is normal. However, additional tests may be carried out when adverse reproductive outcomes and findings in the medical and reproductive history may require the use of these further tests especially when there are no findings on the female side.
Reproductive Carrier Screening and Its Increasing Importance in Fertility Management
Authors: Delatycki Martin 
Published: January 2024

Advances in genetics have had a huge impact on reproductive choices. Reproductive carrier screening has transitioned from testing for a small number of conditions, often ethnically specific, to pan ethnic large panels. The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission), funded by the Medical Research Future Fund, studied the acceptability and feasibility of offering such a large panel to couples pre pregnancy or in the early stages of pregnancy. Screening of around 1300 genes was offered by healthcare professionals. Education and consent were largely through an online portal. Genomic testing was conducted on self-collected cheek swabs. The study demonstrated that such screening can be offered at scale and that people use the information to inform reproductive decisions. Another area where genetic advances has played a crucial role in obstetrics is the ability to undertake genomic sequencing to identify the cause for abnormal ultrasound findings. Whereas in the relatively recent past, the only test available to try to identify the cause of add normal ultrasound findings was a banded karyotype on CVS or amniocentesis, now a specific single gene diagnosis can be made in some instances to inform prognosis and better enable couples to make informed reproductive decisions.
Myomectomy - Choosing the Surgical Approach
Authors: Lee Chyi Long 
Published: January 2024

In patients who are desirous of future pregnancy and choose to preserve the uterus, myomectomy is the best surgical option where medical management is not suitable for the patient. Myomectomy was initially performed successfully in 1840 by Amussat and the procedure has evolved from open laparotomy to laparoscopy, hysteroscopy, VNOTES and robotic myomectomy. The surgical approach in doing myomectomy depends on the type and location of the myoma and the surgeon’s expertise. Minimally invasive surgery has been the preferred approach due to the benefit of shorter hospital stay, lesser postoperative pain, earlier recovery, minimal blood loss and the cosmetic appearance of the scar. The success of this procedure depends also on the incision technique, enucleation, blood loss prevention by employing hemostatic techniques as well as suturing techniques. Performing myomectomy for a large uterine myoma is a laparoscopic challenge; however, with the use of Lee-Huang point (midpoint between umbilicus and xiphoid) as the primary insertion and camera port, one can easily navigate thru the abdominal cavity in case the uterus is huge obscuring the umbilical port. Laparoscopic Myomectomy can be safely and efficiently performed by experienced laparoscopic surgeons regardless of myoma size, number, and location. Removal of large myoma specimen from the abdominal cavity through the laparoscope became a challenge after the use of power morcellator was abandoned. To overcome this problem, the large myoma is placed inside an Endo bag and its edges brought extracorporeally through the port site. The myoma is incised in a C-manner using a scalpel to reduce the size. Myoma can also be removed using in-bag morcellation. Fertility preservation is the long-term aim of doing myomectomy instead of hysterectomy in the management of leiomyoma aside from alleviating symptoms of abnormal uterine bleeding, urinary frequency, and abdominal pain. Thus, every procedure should perform under patient centered concept.
Building Resilience in Patients Undergoing ART
Authors: Nicholson Helen 
Published: January 2024

“The coffee shops I’ve cried in” Building resilience is part of an individual’s personal growth and development and has long term benefits for clients. In this presentation Helen will focus on the importance of clients building resilience in their fertility treatment journey. She introduces a social work perspective of the patient context and the sources of difficulty that they may encounter during ART, before discussing resilience. Helen locates resilience within a human development model; the social-ecological model adapted from the work of Urie Brofenbrenner. She explores how clinics can support clients to build resilience both through the fertility counsellor role and at the multi-disciplinary team/unit level.
Surgery for Obstructive Azoospermia
Authors: Huang William J. 
Published: January 2024

Microsurgical technique in male infertility has progressed significantly since the introduction of intracytoplasmic sperm infection (ICSI) 30 years ago. The searching of sperm available for ICSI becomes the main tasks for reproductive andrologists. At the initial study for patients with azoospermia, it is crucial to differentiate obstructive causes from non-obstructive categories. Testis biopsy is still a gold standard testing method to confirm obstructive azoospermia (OA). For patients with OA, the choice spectrum of treatment is broad. Basically, sperm can be retrieved from anywhere upstream the blocking spot along the male reproductive tract. However, it is not always that infertile couples consider ICSI as their treatment of choice. The choice of treatment should be prioritized according to patients’ concerns. The concerns include age of female partner, the patency of oviducts, the presence of infection in the seminal plasma, DNA fragmentation index of sperm, failure of prior use of downstream sperm for in vitro fertilization (IVF) or ICSI, religious limitation, economical affordability, number of babies expected and techniques available from the surgeons. For techniques view, the surgeons should be equipped with capabilities of techniques for sperm retrieval from the testis (testicular sperm extraction, abbreviated TESE) and epididymis (percutaneous epididymal sperm extraction abb. PESA; or microscopic epididymal sperm aspiration abb. MESA). Besides, techniques of microsurgical anastomosis of vas (vasectomy reversal or vaso-vasostomy) and epididymal tubule (vaso-epididymostomy) after scrotal exploration are also required. Other special conditions of obstructive azoospermia are also included, such as congenital absence of vas deferens (CBAVD) or causes for dry ejaculation (including diabetes neuropathy, or post retroperitoneal surgery), or obstruction of ejaculatory ducts. Herein, I would like to share the experiences on treatment of various types of obstructive azoospermia, via scrotal exploration and the techniques of epididymovasostomy. Besides, different techniques of sperm retrieval like MESA and TESE are also demonstrated.
How to Improve Clinical Outcome in ROSI
Authors: Tanaka Atsushi 
Published: January 2024

In 1996, Tesarik reported the first successful case of ROSI and many successful cases were reported around the world, however very few cases of deliveries were reported. Many doctors began to become doubtful about the usefulness of ROSI and it almost disappeared from the field of ART. Based on recent advances on ROSI research, I think it is now necessary to reconsider the usefulness of ROSI. There are three issues concerning the extremely low success rate of ROSI. The first is the cytodifferentiation of round spermatid from other round cells. The most difficult cytological differentiation is between spermatogonia and round spermatid. The second is insufficient oocyte activation. Finally, ROSI improvement is being prevented by epigenetic errors. The big difference in ROSI and ICSI is caused by different nuclear proteins. We are now experimenting how to solve those epigenetic errors using histone deacetylase inhibitor. The first two problems have almost been solved. The only problem we are yet to overcome is the epigenetic abnormality. The big difference between ROSI and ICSI is the different type of nuclear protein. In a round spermatid is histone and in a spermatozoon is protamine. Normal transformation of nucleosomes into nucleoprotamine is generated in normal spermatogenesis. The characteristics of nuclei of RS are ①incomplete histone-protein transition (incomplete chromatin reprograming), ②active DNA demethylation, then these epigenetic errors affect gene expression. We are now conducting some experiments to solve these problems. The experiment involves the correction of abnormal gene expression by using histone deacetylase inhibitor. However, this method is not yet allowed clinically. I believe these procedures will be allowed for clinical application after accumulation of positive evidence by researchers.