HUMAN REPRODUCTION

A North American preconception study of sleep health and semen quality
Coleman CM, Wesselink AK, Yland JJ, Sommer GJ, Eisenberg ML, Bertisch SM, Rothman KJ, Hatch EE and Wise LA
To what extent are self-reported sleep health measures associated with semen quality?
Microdeletion and microduplication syndromes, including recurrent rearrangements at 16p11.2 and 22q11.21, are enriched in unexplained male infertility
Kikas T, Dutta A, Inno R, Pomm K, Tjagur S, Poolamets O, Roomere H, Punab M and Laan M
What is the impact of undiagnosed microdeletion and microduplication syndromes (MMS) for men with idiopathic low sperm count?
Studies of post-partum placentas provide insights into the origin of structural chromosomal aberrations
Thomsen SH, van Berkel A, van Veen S, van Koetsveld N, Joosten M, Diderich KEM, van den Born M, Srebniak MI and Van Opstal D
Can comprehensive cytogenetic follow-up of the placenta post-partum uncover possible explanations for discrepancies between non-invasive prenatal testing (NIPT) showing structural chromosomal aberrations and foetal follow-up showing normal results or other chromosomal aberrations?
Sustained soluble adenylyl cyclase (sAC)-generated cAMP is necessary and sufficient for hyperactivated motility in human sperm
Ritagliati C, Devine F, Buck J and Levin LR
How does soluble adenylyl cyclase (sAC)-generated cyclic AMP (cAMP) control hyperactivated motility in human sperm?
Female infertility diagnosis and adult-onset psychiatric conditions: a matched cohort study
Ben Messaoud K, Zaks N, Licciardi F, Ramlau-Hansen CH, Kahn LG and Janecka M
Is there an association between infertility diagnosis and long-term adult-onset psychiatric conditions in women?
New models of implantation: towards a whole better than the sum of parts
Rawlings TM, Guttridge SA and Lucas ES
Recent advances in the development of stem-cell-based embryo models and endometrial assembloids have fuelled understanding of their respective biology. However, a faithful combined approach is required to truly advance our understanding of implantation processes. This mini-review considers the most recent developments in producing reliable in vitro models of the human endometrium and human embryo, and the next steps required to combine their respective potential. While the fundamental biology of implantation is the primary driver of in vitro model development, the combined effort of embryo and endometrial models to generate new models of implantation provides the opportunity to manipulate either compartment to further understand the aetiologies of reproductive dysfunction. Through combining both systems, their efforts are symbiotic, each extending the relevance and utility of their counterpart to generate a whole greater than the sum of its parts.
Correction to: Reply: Biosimilars versus the originator of follitropin alfa in ART: eyes wide shut?
The contribution of single-cell omics technologies to improve knowledge on human early embryo development
Girard O, Moinard E, David L and Fréour T
Understanding human early embryo development from fertilization to gastrulation is essential to improve medically assisted reproduction. Faced with technical and ethical limitations, research into peri-implantation stages has been transformed by the recent onset of single-cell omics technologies. These approaches encompassing transcriptomics, epigenomics, and proteomics now enable unprecedented resolution of cellular heterogeneity, lineage specification, and spatial organization during early development. Here, we review the major discoveries permitted by single-cell omics methods, presented chronologically to reflect the progression of embryonic development. We address, among others, the delineation of blastomere contributions, mechanisms of embryonic genome activation, and the sequential specification of the trophectoderm, epiblast, and hypoblast lineages. We also explore how single-cell omics clarifies the effects of aneuploidy, uncovers mural-polar trophectoderm maturation, revises X chromosome regulation, and enables identification of rare post-implantation populations like primordial germ cells and amnion.
Reply: Foundation models in IVF: from speculation to implementation with FEMI
Hammer HL, Thambawita V and Riegler MA
Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling
Vernimmen V, De Rycke M, Moutou C, Dreesen J, Blok MJ, van Minkelen R, Lauer-Zillhardt J, Verdyck P, Keymolen K, van Uum C, Homminga I, Brandts L, Stumpel CTRM, Coonen E, Heijligers M, van Zelst-Stams W, Zamani Esteki M, van den Wijngaard A, de Die-Smulders CEM and Paulussen ADC
How do the genetic complexities of neurofibromatosis type 1 (NF1) impact reproductive counseling, preimplantation genetic testing (PGT) design, and PGT treatment?
Patient-derived epithelial cell organoids mimic the phenotypic complexity of endometriosis subtypes
Gunther K, Liu D, Cortesi M, Powell E, Nesbitt-Hawes E, Abbott JA and Ford CE
Can patient-derived organoid models be reliably established from diverse surgical phenotypes of endometriosis, and how do clinical factors such as hormonal treatment affect their growth success and morphology?
Safeguarding WHO guideline recommendations through strengthened scientific integrity to advance global health
Mburu G, Santesso N, Brignardello-Petersen R, Farquhar C, Kennedy R and Kiarie J
Recommendations from the WHO guideline for the prevention, diagnosis, and treatment of infertility†
, Mburu G, Santesso N, Brignardello-Petersen R, Kennedy R, Farquhar C, Boivin J, Pennings G, Giudice LC, Rebar RW, Gianaroli L, Vuong LN, Esteves SC, De Jonge CJ, Pacey A, Ombelet W, Kucuk T, Collura BL, Kordic K, Amato P, Matsaseng T and Kiarie J
What is the recommended prevention, diagnosis, and treatment of infertility among individuals and couples?
WHO infertility guidelines 2025: a call for evidence-based practice
Kirkegaard K and Barratt C
Correction to: Endometrial preparation protocols for frozen embryo transfer: Risk assessment and individualized management
Are infertile men at a higher risk of morbidity and early mortality?
Caroppo E and Eisenberg ML
Increasing evidence supports the role of male infertility as a harbinger of broader health issues, given that infertile men often exhibit higher rates of chronic conditions later in life. Infertile men have double the risk of developing testicular and breast cancer and an increased risk of high-grade prostate cancer, are more likely to develop ischemic heart disease, hypertension, heart disease, and hyperlipidemia, and have higher cardiovascular mortality compared to fertile men. The risk of developing Type 2 diabetes seems to increase with the severity of the spermatogenic dysfunction, and metabolic abnormalities such as insulin resistance, increased visceral adiposity, and systemic inflammation are often reported in men with male factor infertility. The relative risk of developing autoimmune diseases such as rheumatoid arthritis, psoriasis, systemic lupus erythematosus, and thyroiditis is significantly higher in infertile compared to fertile men, although the absolute risk is low. Male infertility also confers a 26% increased risk of early mortality, and the risk is even increased for men with azoospermia. On the other hand, a linear relationship between all semen parameters and life expectancy was found in a recent study. To explain the relationship between male infertility and increased risk of morbidity and mortality, hormonal, lifestyle/behavior, and genetic factors have been previously called into question. In the present mini review, the immune system alteration and the epigenetic hypotheses are exposed in more detail. The proposed evidence suggest that health screening for related conditions should be offered as part of the routine male infertility workup, to facilitate earlier detection and preventative care, and to position reproductive evaluations as a pivotal moment for long-term health intervention.
Male infertility and risk of cardiometabolic conditions: a population-based cohort study
Marozzi J, Hanly M, Venetis C, O'Bryan MK, McLachlan R and Chambers GM
Is male infertility independently associated with an increased risk of incident hypertension, ischemic and non-ischemic heart disease, diabetes, and/or cerebrovascular disease?
Foundation models in IVF: from speculation to implementation with FEMI
Shoham Z
A comparison of progesterone via vaginal oil capsules versus pessaries for luteal phase support in assisted reproduction treatment: a multicentre cohort study of 42 291 cycles
Dhillon-Smith RK, Khairy M, Bamford T, Sephton V, Richardson A, Balen AH and Coomarasamy A
What is the effect of progesterone administered via vaginal oil capsules versus pessaries, on clinical outcomes, when used for luteal phase support (LPS) in ART?
Increased OCT4 expression in Day 5 blastocysts may explain the increased clinical outcomes of D5 versus D6 blastocyst transfers
Lee JH, Chang WF, Tzeng SY, Lee YX, Tan SJ, Wang RS, Ho JY, Lin SY, Hwu YM and Tzeng CR
Are the clinical pregnancy rates and cell lineage-related markers of equal-grade Day 5 (D5) and Day 6 (D6) embryos the same?
Serum miRNA-based diagnostic models for endometriosis: from discovery to validation
Ravaggi A, Bergamaschi C, Conforti J, Ciravolo G, Zanotti L, Fabricio ASC, Gion M, Cappelletto E, Leon AE, Rossetti DO, Romagnolo C, Calza S, Bignotti E and Odicino F
Can a serum miRNA signature serve as a potential diagnostic biomarker for endometriosis (END)?