The primary cilium is a microtubule-based organelle that projects from the cell surface. It is present in cells from single-celled eukaryotes to vertebrates, including humans. Recent studies have found that primary cilia are also widely distributed in multiple organs and tissues of the reproductive system, where they influence reproductive function by directly participating in or indirectly regulating related signaling pathways, thereby affecting fertility. Primary cilia participate in the regulation of oocyte meiosis and development. They also influence sperm maturation by regulating the homeostatic microenvironment required for spermiogenesis. By mediating Hedgehog (Hh) and Wnt signaling pathways, primary cilia regulate endometrial receptivity and decidual response, thereby influencing the embryo implantation rate. Furthermore, primary cilia control the migration, invasion, differentiation, and vascular remodeling of human chorionic villi mesenchymal stromal cells and trophoblasts. Structural or functional impairment of primary cilia may disrupt placental vascular remodeling, leading to placental hypoplasia, potentially through the downregulation of downstream target genes of the Hh signaling pathway. Moreover, primary cilia may be involved in ovarian aging, ovulation, and endocrine function. This article reviews the research progress on the relationship between primary cilia and fertility, explores the potential mechanisms underlying roles of primary cilia in gamete development, endometrial receptivity, decidualization, placental development, and ovarian reproductive endocrine function, and aims to provide new insights for fertility preservation and the prevention and treatment of human reproductive disorders.

Breast cancer patients in China tend to be diagnosed at a younger age, making fertility issues a significant clinical and societal challenge. Current evidence indicates that the fertility rate among breast cancer survivors is substantially lower than that of the general population of the same age. Both the disease itself and anti-tumor treatments-including chemotherapy, radiotherapy, endocrine therapy, targeted therapy, and immunotherapy-can adversely affect female fertility. Therefore, fertility considera-tions should be integrated into the comprehensive management of breast cancer from the time of diagnosis. Several guidelines and consensus statements have been established to direct fertility management in these patients. Clinical practice has achieved some success in fertility preservation through pharmacological, surgical, and assisted reproductive technologies, which help mitigate treatment-related damage to fertility. Nevertheless, further progress relies on multidisciplinary collaboration, particularly in addressing the ethical and legal aspects of fertility preservation. Recent advances in research on hereditary breast cancer, risk assessment, and preimplantation genetic testing for polygenic diseases offer new perspectives and directions for fertility management in breast cancer patients. This review systematically summarizes the current fertility status, existing management strategies, and cutting-edge research on healthy reproduction in breast cancer patients, with the aim of supporting the standardization of fertility management protocols.

Skeletal muscle plays a crucial role in maintaining metabolism,energy homeostasis,movement,as well as endocrine function.The gestation period is a critical stage for myogenesis and development of the skeletal muscle.Adverse environmental exposures during pregnancy may impose various effects on the skeletal muscle health of the offspring.Maternal obesity during pregnancy can mediate lipid deposition in the skeletal muscle of the offspring by affecting fetal skeletal muscle metabolism and inflammation-related pathways.Poor dietary habits during pregnancy,such as high sugar and high fat intake,can affect autophagy of skeletal muscle mitochondria and reduce the quality of the offspring skeletal muscle.Nutritional deficiencies during pregnancy can affect the development of the offspring skeletal muscle through epigenetic modifications.Gestational diabetes may affect the function of the offspring skeletal muscle by upregulating the levels of miR-15a and miR-15b in the offspring.Exposure to environmental endocrine disruptors during pregnancy may impair skeletal muscle function by interfering with insulin receptor-related signaling pathways.This article reviews the research progress on effects and possible mechanisms of adverse maternal exposures during pregnancy on the offspring skeletal muscle function based on clinical and animal studies,aiming to provide scientific evidence for the prevention and treatment strategies of birth defects in the skeletal muscle.

Preimplantation genetic testing is an important part in assisted reproductive technology,which can block the intergenerational inheritance of a single gene or chromosomal diseases.Preimplantation genetic testing for polygenic disease risk(PGT-P)is one of the latest developments in the field.With the development of artificial intelligence and genetic detection technology,PGT-P can be used to analyze genetic material,calculate polygenic risk scores and convert these into incidence probability.Embryos with relatively low incidence probability can be screened for transfer,in order to reduce the possibility that the offspring suffers from the disease in the future.This has significant clinical and social significance.At present,PGT-P has been applied clinically and made phased progress at home and abroad.But as a developing technology,PGT-P still has some technical limitations as unstable results,environmental influences and racial differences cannot be ruled out.From the ethical perspective,if the screening indications are not strictly regulated,it is likely to cause new social problems.In this paper,we review the technical details and recent progress in PGT-P,and discuss the prospects of its future development,especially how to establish a complete and suitable screening model for Chinese population.

The new-generation non-invasive prenatal screening technology (NIPT2.0) is a new method successfully realized in recent years based on high-throughput sequencing to synchronously and accurately detect fetal chromosomal aneuploidies, microdeletion/microduplication syndromes and dominantly inherited monogenic disorders. NIPT2.0 can circumvent the shortcomings of previous non-invasive prenatal screening techniques (NIPT and NIPT Plus) including incapability to detect fetal monogenic disorders, insufficient accuracy of detection and low positive predictive values for certain chromosomal abnormalities (in particular trisomy 13, sex chromosomal abnormalities, and small-segment microdeletions and microduplication syndromes). How to apply NIPT2.0 reasonably and normatively to maximize its clinical value has become an issue which requires clarification. The Reproductive Health Branch of the Chinese Maternal and Child Health Care Association has organized experts to fully discuss and jointly drafted this consensus, which has put forwards suggestions over the clinical application strategy for NIPT2.0, including the scope of application, target disease, pre-test consultation, clinical application pathway, post-test genetic counseling and intervention, quality control and limitations, for the reference by peers, with a view to standardize its application and provide better clinical service.

Assisted reproductive technologies(ARTs)are core components of the field of reproductive medicine,encompassing multiple pivotal stages of early development from gamete maturation and fertilization to embryo development.Against the backdrop of a deteriorating trend of global decline in fertility rates,patients with infertility problems increasingly turn to ARTs to realize their dreams of parenthood.However,concomitant with this trend is a growing apprehension regarding the potential adverse effects of ARTs.Herein,we endeavor to discuss several common ARTs procedures utilized in clinical settings and the relevant cutting-edge advancements.The ARTs discussed in the article include in vitro fertilization(IVF),intracytoplasmic sperm injection(ICSI),biphasic in vitro maturation(biphasic IVM),frozen embryo transfer(FET),preimplantation genetic testing(PGT),non-invasive PGT(niPGT),etc.In addition,we reevaluated their roles within the broader context of assisted reproduction aimed at promoting reproductive health.Additionally,we will delve into the impact of ARTs on the reproductive health of the offspring.By prioritizing the reproductive well-being of both patients and their offspring,the ongoing development and improvement of ARTs to enhance their efficacy and safety will contribute significantly to the advancement of human reproductive health.

Objective:To compare the perinatal mental health status of women conceived through assisted reproductive technology (ART) and women conceived naturally.Methods:In a prospective China National Birth Cohort study, 2 693 pregnant women were enrolled in the International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University, School of Medicine from March 2017 to March 2021. They were divided into ART group ( n=733) and natural conception (NC group, n=1 960) according to the mode of conception. Mental health was assessed in the first trimester (<14 weeks), the second trimester (22-26 weeks), and the third trimester (30-34 weeks) as well as 6 weeks after delivery. Antenatally, mental health status was assessed by using the Center for Epidemiologic Studies Depression Scale (CESD), Self-rating Anxiety Scale (SAS), and Perceived Stress Scale (PSS). Postpartum depressive symptoms were assessed using the Edinburgh Postnatal Depression Scale (EPDS). Logistic regression was used to analyze maternal mental health related factors. Results:Logistic regression results showed that women in the ART group were less likely to experience depressive symptoms compared with those in the NC group in the first trimester (a OR=0.81, 95% CI: 0.66-0.99), the second trimester (a OR=0.73, 95% CI: 0.60-0.90), the third trimester (a OR=0.82, 95% CI: 0.68-1.00) and 6 weeks after delivery (a OR=0.57, 95% CI: 0.43-0.75). Meanwhile, women in the ART group felt significantly less stress during pregnancy than women in the NC group (the first trimester, P<0.001; the second trimester, P<0.001; the third trimester, P=0.001). However, the difference in women's anxiety symptoms during pregnancy was not found to be significant between the two groups (all P>0.05). Conclusion:Women who conceived through ART have lower risks of perinatal mental health problems than those who conceived spontaneously.

Assisted reproductive technology (ART) has made a great contribution to treat infertility and support population development. However, more and more studies have found that ART may bring various short-term and long-term health risks to the offspring due to its non-physiological in vitro operation, unnatural reproductive characteristics, and application in the critical period of gametes and embryonic development. Studies have found that the key operations of ART may affect the neurological and psychiatric health of offspring, including disease risk and academic performance, through affecting the gamete, the epigenetic regulatory program of the embryo, and the hormonal environment. This article reviewed the effects of ART on neurodevelopmental disorders, neurological diseases, and mental diseases in offspring, providing new ideas for the prevention and treatment of mental and neurological diseases and improving the safety of assisted reproduction.

Skeletal muscle plays a crucial role in maintaining metabolic function, energy homeostasis, movement function, as well as endocrine function. The gestation period is a critical stage for the myogenesis and development of skeletal muscle. Adverse environmental exposures during pregnancy would impose various effects on the skeletal muscle health of offspring. Maternal obesity during pregnancy can mediate lipid deposition in skeletal muscle of offspring by affecting fetal skeletal muscle metabolism and inflammation-related pathways. Poor dietary habits during pregnancy, such as high sugar and high fat intake, can affect the autophagy function of skeletal muscle mitochondria and reduce the quality of offspring skeletal muscle. Nutritional deficiencies during pregnancy can affect the development of offspring skeletal muscle through epigenetic modifications. Gestational diabetes may affect the function of offspring skeletal muscle by upregulating the levels of miR-15a and miR-15b in offspring. Exposure to environmental endocrine disruptors during pregnancy may impair skeletal muscle function by interfering with insulin receptor-related signaling pathways in offspring. This article reviews the research progress on effects and possible mechanisms of adverse maternal exposures during pregnancy on offspring skeletal muscle function in clinical and animal studies, aiming to provide scientific evidence for the prevention and treatment strategy of birth defects in skeletal muscle.

Preimplantation genetic testing is an important part in assisted reproductive technology, which can block the intergenerational inheritance of single gene or chromosomal diseases. Preimplantation genetic testing for polygenic disease risk (PGT-P) is the latest development in the field. It is known that polygenic diseases usually have the characteristics of high incidence, late onset, affecting the quality of life and mental health of patients. On the basis of the development of artificial intelligence and genetic detection technology, PGT-P can analyze genetic material, calculate polygenic risk score turning into incidence probability. Embryos with relatively low incidence probability can be screened for transfer, so as to reduce the possibility of offspring suffering from the disease in the future, which has significant clinical and social significance. At present, PGT-P has been applied clinically and made phased progress at home and abroad. At the same time, as a developing technology, PGT-P still has some technical defects, unstable results, environmental influences and racial differences cannot be ruled out. From the perspective of ethics, if the screening indications are not strictly regulated, it is likely to cause new social problems. In this paper, we review the technical composition and recent progress of PGT-P, and put forward the prospect of its future development, especially how to establish a complete and suitable screening model for Chinese population.