The advent of next-generation sequencing (NGS) has brought about a paradigm shift in genomics research, offering unparalleled capabilities for analyzing DNA and RNA molecules in a high-throughput and cost-effective manner. This transformative technology has swiftly propelled genomics advancements across diverse domains. NGS allows for the rapid sequencing of millions of DNA fragments simultaneously, providing comprehensive insights into genome structure, genetic variations, gene expression profiles, and epigenetic modifications. The versatility of NGS platforms has expanded the scope of genomics research, facilitating studies on rare genetic diseases, cancer genomics, microbiome analysis, infectious diseases, and population genetics. Moreover, NGS has enabled the development of targeted therapies, precision medicine approaches, and improved diagnostic methods. This review provides an insightful overview of the current trends and recent advancements in NGS technology, highlighting its potential impact on diverse areas of genomic research. Moreover, the review delves into the challenges encountered and future directions of NGS technology, including endeavors to enhance the accuracy and sensitivity of sequencing data, the development of novel algorithms for data analysis, and the pursuit of more efficient, scalable, and cost-effective solutions that lie ahead.

Next-Generation Sequencing Technology: Current Trends and Advancements

results: Studies show that mild interference with the decrease in follicle-stimulating hormone levels in the mid-follicular phase was suffi- cient to override the selection of a single dominant follicle. Gonadotrophin-releasing hormone antagonists compared with agonists reduce length and dosage of gonadotrophin treatment without a significant reduction in the probability of live birth (OR 0.86, 95% CI 0.72- 1.02). Mild ovarian stimulation may be achieved with limited gonadotrophins or with alternatives such as anti-estrogens or aromatase inhibitors. Another option is luteinizing hormone or human chorionic gonadotrophin administration during the late follicular phase. Studies regarding these approaches are discussed individually; small sample size of single studies along with heterogeneity in patient inclusion criteria as well as outcomes analysed does not allow a meta-analysis to be performed. Additionally, the implications of mild ovarian stimulation for embryo quality, endometrial receptivity, cost and the psychological impact of IVF treatment are discussed. conclusions: Evidence in favour of mild ovarian stimulation for IVF is accumulating in recent literature. However, further, sufficiently powered prospective studies applying novel mild treatment regimens are required and structured reporting of the incidence and severity of com- plications, the number of treatment days, medication used, cost, patient discomfort and number of patient drop-outs in studies on IVF is encouraged.

/pdf/mild-ovarian-stimulation-for-ivf-11vt3bz2xu.pdf

Mild ovarian stimulation for IVF

Despite the development of in vitro fertilization (IVF) more than 30 years ago, the cost of treatment remains high. Furthermore, over the years, more sophisticated technologies and expensive medications have been introduced, making IVF increasingly inaccessible despite the increasing need. Globally, the option to undergo IVF is only available to a privileged few. In recent years, there has been growing interest in exploring strategies to reduce the cost of IVF treatment, which would allow the service to be provided in low-resource settings. In this review, we explore the various ways in which the cost of this treatment can be reduced.

/pdf/low-cost-in-vitro-fertilization-current-insights-xxrh3h5vlf.pdf

Low-cost in vitro fertilization: current insights.

Mild stimulation protocols aim to reduce the physical, financial and emotional burden associated with the conventional IVF protocol without compromising the pregnancy rate. Such protocols help to decrease the complications and the discomfort related to the prolonged administration of agonist and large doses of gonadotrophins, by limiting the number of oocytes recruited to no more than eight. The per cycle pregnancy rates are lower though the cumulative pregnancy rate in a year is equivalent. This CPR comes by going through earlier repeat cycles. Whether this reduces the physical, emotional or financial burden remains a matter of debate. There is need to standardize these protocol and do more trials to compare the two effectively. Till such time there is a clear benefit above the conventional protocol it will not be the protocol of choice with most physicians.

Should mild stimulation be the order of the day

BACKGROUND
As in other domains of medicine, high-throughput sequencing methods have led to the identification of an ever-increasing number of gene variants in the fields of both male and female infertility. The increasing number of recently identified genes allows an accurate diagnosis for previously idiopathic cases of female infertility and more appropriate patient care. However, robust evidence of the gene-disease relationships (GDR) allowing the proper translation to clinical application is still missing in many cases.


OBJECTIVE AND RATIONALE
An evidence-based curation of currently identified genes involved in female infertility and differences in sex development (DSD) would significantly improve both diagnostic performance and genetic research. We therefore performed a systematic review to summarize current knowledge and assess the available GDR.


SEARCH METHODS
PRISMA guidelines were applied to curate all available information from PubMed and Web of Science on genetics of human female infertility and DSD leading to infertility, from 1 January 1988 to 1 November 2021. The reviewed pathologies include non-syndromic as well as syndromic female infertility, and endocrine and reproductive system disorders. The evidence that an identified phenotype is caused by pathogenic variants in a specific gene was assessed according to a standardized scoring system. A final score (no evidence, limited, moderate, strong, or definitive) was assigned to every GDR.


OUTCOMES
A total of 45 271 publications were identified and screened for inclusion of which 1078 were selected for gene and variant extraction. We have identified 395 genes and validated 466 GDRs covering all reported monogenic causes of female infertility and DSD. Furthermore, we present a genetic diagnostic flowchart including 105 genes with at least moderate evidence for female infertility and suggest recommendations for future research. The study did not take into account associated genetic risk factor(s) or oligogenic/polygenic causes of female infertility.


WIDER IMPLICATIONS
We have comprehensively reviewed the existing research on the genetics of female infertility and DSD, which will enable the development of diagnostic panels using validated genes. Whole genome analysis is shifting from predominantly research to clinical application, increasing its diagnostic potential. These new diagnostic possibilities will not only decrease the number of idiopathic cases but will also render genetic counselling more effective for infertile patients and their families.

A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development.

Preliminary experience with a low-cost stimulation protocol that includes letrozole and human menopausal gonadotropins in normal responders for assisted reproductive technologies

Neonatal outcome after ICSI with MACS for selection of non apoptotic spermatozoa: first report

O-132: Assessment of motivations, attitudes and psychosocial features among voluntary oocyte donors in Argentina

Objective To present the development of the first custom gene panel for the diagnosis of male and female infertility in Latin America. Methods We developed a next-generation sequencing (NGS) panel that assesses genes associated with infertility. The panel targeted exons and their flanking regions. Selected introns in the CFTR gene were also included. The FMR1 gene and Y chromosome microdeletions were analyzed with other recommended methodologies. An in-house developed bioinformatic pipeline was applied for the interpretation of the results. Clear infertility phenotypes, idiopathic infertility, and samples with known pathogenic variants were evaluated. Results A total of 75 genes were selected based on female (primary ovarian insufficiency, risk of ovarian hyperstimulation syndrome, recurrent pregnancy loss, oocyte maturation defects, and embryo development arrest) and male conditions (azoospermia, severe oligospermia, asthenozoospermia, and teratozoospermia). The panel designed was used to assess 25 DNA samples. Two of the variants found were classified as pathogenic and enable the diagnosis of a woman with secondary amenorrhea and a man with oligoasthenoteratozoospermia. Targeted NGS assay metrics resulted in a mean of 180X coverage, with more than 98% of the bases covered ≥20X. Conclusion Our custom gene sequencing panel designed for the diagnosis of male and female infertility caused by genetic defects revealed the underlying genetic cause of some cases of infertility. The panel will allow us to develop more precise approaches in assisted reproduction.

/pdf/first-custom-next-generation-sequencing-infertility-panel-in-junbq3sxix.pdf

First custom next-generation sequencing infertility panel in Latin America: design and first results.

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Preliminary experience with a low-cost stimulation protocol that includes letrozole and human menopausal gonadotropins in normal responders for assisted reproductive technologies

Neonatal outcome after ICSI with MACS for selection of non apoptotic spermatozoa: first report

O-132: Assessment of motivations, attitudes and psychosocial features among voluntary oocyte donors in Argentina

First custom next-generation sequencing infertility panel in Latin America: design and first results.