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  • Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(7): 715-722. https://doi.org/10.19538/j.fk2025070111
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  • Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(10): 1004-1011. https://doi.org/10.19538/j.fk2025100110
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  • Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(7): 723-729. https://doi.org/10.19538/j.fk2025070112
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  • Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(7): 764-768. https://doi.org/10.19538/j.fk2025070121
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  • LIU Yao-dan, YI Xiao-fang, CHEN Yi-song
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(8): 797-802. https://doi.org/10.19538/j.fk2025080107
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    Myofascial pelvic pain syndrome is a major cause of chronic pelvic pain,often accompanied by lower urinary tract and bowel symptoms and sexual disorders,with a complex and highly heterogeneous pathophysiology,which makes diagnosis challenging and necessitates multidimensional assessment. Physical therapy is the first-line treatment,while multidisciplinary comprehensive intervention is recommended in complex cases. Establishing standardized diagnosis and treatment pathways,integrated with intelligent monitoring technologies,can optimize the entire cycle of patient management,which contributes to pelvic floor functional rehabilitation,and improves quality of life.

  • ZOU Gen, ZHANG Xin-mei
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(8): 778-784. https://doi.org/10.19538/j.fk2025080103
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    Endometriosis is a common disease in women of reproductive age. Pain is one of the most common reasons for patients with endometriosis seeking medical treatment,and seriously affects women's quality of life.The pathogensis of endometriosis-associated pain is complex and the manifestations are various,making its diagnosis and treatment still a clinical challenge.It is necessary to conduct a comprehensive evaluation of the patient's pain characteristics in clinical practice in order to make a correct diagnosis as early as possible. Typically,a combination of medication,surgical treatment,and psychological intervention is required for the treatment,in order to make an individualized treatment plan for patients. This article provides a brief discussion on the diagnosis,treatment and management of endometriosis-associated pain.

  • Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(9): 905-913. https://doi.org/10.19538/j.fk2025090111
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  • Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(9): 928-935. https://doi.org/10.19538/j.fk2025090114
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  • ZHONG Xiao-ying, LIU Hai-yuan
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(7): 710-714. https://doi.org/10.19538/j.fk2025070110
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    The technique of laparoscopic single-site surgery is gradually becoming popular in gynecological surgery,but there is currently no guideline or consensus on the indications and treatment plans for single-port surgery for large uterine fibroids.Regarding preoperative evaluation,pre-processing strategies,and key surgical techniques,this article provides diagnostic and therapeutic experience of single-port surgical treatment for giant uterine fibroids,and explores the differences in surgical efficacy,obstetric outcomes,and postoperative recurrence between single-port and multi-port laparoscopy,providing basis for clinical diagnosis and treatment basis.

  • ZHANG Yu-hao, LI Jing, LIN Zhong-qiu, LU Huai-wu
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(9): 941-945. https://doi.org/10.19538/j.fk2025090116
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    Objective To explore the efficacy and safety of albumin-bound paclitaxel combined with platinum-based agents as first-line adjuvant chemotherapy for epithelial ovarian cancer. Methods A total of 330 eligible patients with epithelial ovarian cancer who received initial treatment at the Gynecologic Oncology Department of Sun Yat-sen Memorial Hospital, Sun Yat-sen University between January 25, 2018 and September 28, 2021 were enrolled in this study. These patients were retrospectively divided into two cohorts: Cohort 1 (n=142), designated as the nab-paclitaxel group, and Cohort 2 (n=188), designated as the paclitaxel group. The feasibility of nab-paclitaxel as a first-line treatment was compared and evaluated. Results No statistically significant difference was observed in median follow-up duration between the nab-paclitaxel and paclitaxel groups (21.70 months vs. 24.62 months, P=0.109). The median progression-free survival (PFS) did not differ significantly between the two groups (17.00 months vs. 20.00 months, P=0.488). However, the nab-paclitaxel group demonstrated higher treatment feasibility (83.8% vs.69.1%, P=0.002) and a lower incidence of myelosuppression of varying degrees (73.2% vs. 86.2%, P=0.003). Quality-of-life assessments revealed that the nab-paclitaxel group experienced milder gastrointestinal reaction, with statistical significance. Conclusion In the first-line adjuvant chemotherapy for epithelial ovarian cancer, albumin-bound paclitaxel+platinum may be used as an alternative regimen, especially for patients who are allergic to paclitaxel or have severe gastrointestinal reactions.

  • MIAO Miao, CHEN Ji-ming
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(7): 702-706. https://doi.org/10.19538/j.fk2025070108
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    With the widespread application of single-port laparoscopic surgery in the diagnosis and treatment of gynecological diseases,related surgical complications have gradually emerged,directly impacting patient outcomes. This article,based on the related literature,elaborates on the occurrence and prevention of complications associated with gynecologic single-port laparoscopic procedures. The aims are to anticipate and promptly identify surgical complications,improve patient prognosis,enhance medical safety,and promote the high-quality development of gynecologic single-port laparoscopic techniques.

  • Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(7): 673-678. https://doi.org/10.19538/j.fk2025070101
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  • Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(9): 920-927. https://doi.org/10.19538/j.fk2025090113
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  • Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(12): 1226-1235. https://doi.org/10.19538/j.fk2025120115
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  • Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(11): 1111-1123. https://doi.org/10.19538/j.fk2025110112
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  • Chinese Journal of Practical Gynecology and Obstetrics. 2026, 42(1): 76-82. https://doi.org/10.19538/j.fk2026010117
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  • SHEN Jian, WANG Zhi-jian
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(9): 869-872. https://doi.org/10.19538/j.fk2025090102
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    HELLP syndrome(hemolysis,elevated liver enzymes,and thrombocytopenia syndrome)is a severe pregnancy-related complication characterized by high maternal and fetal mortality rates.Fulminant HELLP syndrome,a critical subtype of HELLP syndrome,is marked by rapid disease progression,significantly abnormal laboratory indices(e.g.,AST>2000 U/L or LDH>3000 U/L),and multi-organ dysfunction.This article reviews the pathophysiological mechanisms,clinical manifestations,diagnostic criteria,and therapeutic principles of fulminant HELLP syndrome.

  • CHEN Xiu-jie, HE Yu, HU Xiao-wen, WU Pan-pan, ZHU Man-man
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(7): 742-746. https://doi.org/10.19538/j.fk2025070116
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    Objective To analyze factors affecting the prognosis of patients with stage ⅢC1 cervical cancer and to develop a nomogram for exploring its value in prognosis evaluation. Methods A total of 91 patients with pathological diagnosis of stage ⅢC1 cervical cancer were included as research subjects, who underwent radical hysterectomy at the First Affiliated Hospital of Bengbu Medical University between January 2016 and December 2020. Prognostic factors were identified using Cox proportional hazards regression analysis, and a nomogram was constructed. The nomogram was evaluated using calibration curves, receiver operating characteristic (ROC) curves, and decision curve analysis (DCA). Results Tumor diameter ≥4cm, paracervical involvement, and lymph node ratio (LNR) ≥0.22 were the risk factors for 3-year OS of the patients with stage ⅢC1 cervical cancer. Tumor diameter ≥4cm, lymphovascular space invasion (LVSI), and LNR ≥0.22 were the risk factors for 3-year DFS of the patients with stage ⅢC1 cervical cancer. The calibration curves of nomogram demonstrated high prediction accuracy of this model, the ROC curves showed high predictive accuracy of the model, and DCA curve confirmed the clinical utility of the model. Conclusions Tumor size, LNR, paracervical involvement, and LVSI are risk factors affecting the prognosis of the patients with stage ⅢC1 cervical cancer. The constructed nomogram may help to guide doctors in stratification management and to take comprehensive treatment in order to improve patient outcomes.

  • WANG Dong-ying, XU Tian-min
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(8): 802-806. https://doi.org/10.19538/j.fk2025080108
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    Pelvic congestion syndrome(PCS) is a significant cause of chronic pelvic pain (CPP) in women,characterized by persistent or cyclic pelvic pain resulting from pelvic venous valve insufficiency and venous dilation. This article summarizes the etiology and pathogenesis of PCS-related CPP,focusing on its clinical manifestations,diagnostic methods,and differential diagnosis,and including the role of imaging examination and venography in establishing a definitive diagnosis. Additionally,the article summarizes various treatment strategies for PCS,diccussing in detail the conservative management,interventional approaches,and the indications and efficacy of surgical treatment. Furthermore,the importance of multidisciplinary collaboration in managing PCS is emphasized.Diagnostic and therapeutic challenges and directions for future research are also expolored. By deepening the understanding of the role of PCS in CPP and optimizing the diagnostic and therapeutic regimens,more precise and individualized treatments can be provided to improve patients' quality of life.

  • Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(8): 772-777. https://doi.org/10.19538/j.fk2025080102
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  • Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(9): 865-868. https://doi.org/10.19538/j.fk2025090101
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  • YANG Qing-qing, ZHU Jue, WANG Qi-ming, YANG Ming-jie, QIAN Miao-hong, ZHANG Jing
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(7): 734-737. https://doi.org/10.19538/j.fk2025070114
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    Objective To develop and internally validate a risk prediction model for postpartum stress urinary incontinence (SUI) in women using machine learning, aiming to provide evidence for early prevention. Methods This retrospective study included 516 postpartum women who underwent pelvic floor screening at 42 days after delivery at Ningbo University Women and Children's Hospital from October 2022 to June 2023 (a case group of 82 cases and a control group of 434 cases). The influencing factors were collected, including age, delivery mode, parity, electromyographic(EMG) data of pelvic floor and pelvic floor ultrasound data. Five machine learning algorithms such as random forest (RF) and support vector machine (SVM) were used to build predictive models. Model performance was evaluated using 10-fold cross-validation. Results The overall incidence of postpartum SUI was 15.89%. Among all models, the random forest model demonstrated the best performance, with an F1 score of 1.000 and AUC of 1.000 in the training set, and an F1 score of 0.776 and AUC of 0.837 in the validation set. The key influencing factors included pelvic floor EMG parameters (e.g., intense contraction and endurance contraction phases), age, parity, perineal injury, and BMI. Pelvic floor EMG parameters contributed the most to classification performance. Conclusions The random forest model shows the best predictive ability. Pelvic floor EMG parameters are strongly associated with postpartum SUI. This model offers a valuable tool for clinicians to accurately assess individual risk and guide early rehabilitation intervention, such as Kegel exercises and biofeedback therapy, which provides new tools for the prevention and treatment of postpartum SUI.

  • TENG Xin-yuan, WANG Li-quan
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(10): 986-989. https://doi.org/10.19538/j.fk2025100108
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    Anemia during pregnancy and the postpartum period is a global public health issue,significantly associated with adverse obstetric outcomes,and iron deficiency (ID) is its primary cause. Currently,novel high-dose intravenous iron formulations,which allow single-dose infusion of ≥1000 mg within 15-30 minutes,have been approved for clinical use in China. However,obstetricians and gynecologists lack sufficient understanding of their efficacy and safety in pregnant and postpartum women. This article discusses the application of high-dose intravenous iron in pregnant and postpartum women.

  • Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(12): 1218-1225. https://doi.org/10.19538/j.fk2025120114
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  • Chinese Journal of Practical Gynecology and Obstetrics. 2026, 42(1): 83-90. https://doi.org/10.19538/j.fk2026010118
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  • GAO Di, WANG Xu, WANG Xue-yin, JUAN Juan, ZHAO Geng-li, ZHANG Xiao-song
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(8): 842-846. https://doi.org/10.19538/j.fk2025080115
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    Objective To investigate the distribution and risk factors of reproductive tract infection(RTI) in women of childbearing age visiting medical institutions. Methods A total of 3,159 women aged 18-49 years visting the gynecology outpatient department of six medical institutions from January 2021 to December 2022 were included in our study. Cervical exfoliated cells were collected for the detection of ten common RTI pathogens,and relevant demographic characteristics were also collected. The distribution of RTI infections was analyzed,and logistic regression was used to analyze the association of RTI with demographic characteristics and smoking status. Results The mean age of the study subjects was 34.6±6.7 years. The positive detection rate of any RTI pathogen was 45.7%,and the detection rate of any Ureaplasma species was 41.8%. The pathogens with the top three positive detection rates were Ureaplasma parvum3(Up3) (17.6%),Up6 (13.4%) and Ureaplasma urealyticum (Uu) (10.2%). Among those with RTI,78.0% were single infection and 22.0% were multiple infection. The rates of RTI were significantly higher in women with junior high school education or below,with average monthly family income more than 20 000 CNY,being unmarried,and with smoking habit(P<0.05). Conclusions The infection rates of RTI-related pathogens in women in gynecology outpatient department are relatively high. The most common RTI pathogens is Ureaplasma species,especially Up3,Up6 and Uu,and single infection is prevalent. At the same time,it is necessary to further strengthen health education for high-risk groups of RTI,such as those with lower education level,lower monthly family income,and smokers,to promote the reproductive health-related knowledge in them. Maintaining the balance of the vaginal microecology and actively treating lower reproductive tract infections in a standardized routine might play a crucial role in enhancing women's reproductive health.

  • Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(8): 814-821. https://doi.org/10.19538/j.fk2025080111
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  • CAI Wei, JIN Jin
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(9): 898-901. https://doi.org/10.19538/j.fk2025090109
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    Evans Syndrome(ES)is a rare autoimmune disease characterized by the presence of at least two types of autoimmune cytopenia(AIC).The etiology of ES is complex and diverse and secondary ES is relatively common.Its occurrence and development are related to primary diseases such as lymphoproliferative disorders,infections,and autoimmune diseases,and the fatality rate is relatively high.When ES is combined with pregnancy,the incidence of perinatal complications is high,which may lead to serious maternal-fetal complications.This article elaborates and summarizes the relevant researches on Evans syndrome at home and abroad,aiming to explore the etiology of Evans syndrome and its impact on pregnancy,provide certain theoretical support for the clinical diagnosis and treatment of ES combined with pregnancy,and improve the maternal and infant outcomes.

  • Chinese Journal of Practical Gynecology and Obstetrics. 2026, 42(3): 295-305. https://doi.org/10.19538/j.fk2026030109
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  • TANG Ping-ping, GAO Jin-song
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(9): 890-894. https://doi.org/10.19538/j.fk2025090107
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    Thrombocytopenia is a common hematologic complication during pregnancy,and immune thrombocytopenia and thrombotic microangiopathy(TMA)are rare but important etiologies, requiring precise differentiation due to their distinct pathological mechanisms,treatment strategies,and maternal-fetal risks. Immune thrombocytopenia refers to thrombocytopenia mediated by abnormal immune activation. The diagnosis of primary immune thrombocytopenia(ITP) should exclude secondary ITP due to other causes (such as autoimmune diseases, infections, drugs, tumors, etc.),and the treatment for ITP primarily involves glucocorticoids and intravenous immunoglobulin.TMA is a group of heterogeneous diseases with the core pathological features of microvascular thrombosis, presenting with microangiopathic hemolysis,thrombocytopenia,and multi-organ dysfunction,which requires specific interventions based on different disease types,such as pregnancy termination,plasma exchange,or complement inhibitors.This article systematically outlines the key points for differential diagnosis of ITP and TMA based on clinical features, laboratory tests and molecular markers,emphasizing the critical importance of initiating targeted therapy promptly in improving maternal-fetal prognosis.

  • Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(10): 964-967. https://doi.org/10.19538/j.fk2025100102
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  • HUANG Jing-rui, ZHANG Wei-she
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(9): 886-890. https://doi.org/10.19538/j.fk2025090106
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    Acute fatty liver of pregnancy(AFLP)is a kind of extremely dangerous pregnancy-specific disease with a low incidence rate,about which most doctors are in lack of understanding.AFLP often occurs in late pregnancy,characterized by liver failure,coagulation dysfunction,and multiple organ dysfunction.Its onset is sudden and progression is rapid.If it is not intervened in a timely manner,the maternal and infant mortality rates are extremely high.In recent years,with the release of domestic clinical management guidelines for AFLP,the understanding of this disease in clinical work has been gradually improved.The development of multidisciplinary diagnosis and treatment models for critically ill patients has significantly increased the success rate of AFLP treatment.This article elaborates on the key indicators of management of severe AFLP and the multidisciplinary collaborative diagnosis and treatment model,in order to provide reference for the management of severe AFLP.

  • Cervical Cancer Committee of China Anti-Cancer Association
    Chinese Journal of Practical Gynecology and Obstetrics. 2026, 42(2): 205-211. https://doi.org/10.19538/j.fk2026020115
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    Objective To investigate the current state of clinical diagnosis and treatment for cervical cancer in China,focusing on systemic therapeutic practices. By surveying clinicians on biomarker testing applications,treatment regimen considerations and preferences,this study is aimed to identify unmet clinical needs and provide a reference for standardization of diagnosis and treatment. Methods A nationwide sampling survey combining online questionnaires and in-depth interviews was conducted from August to September 2025,involving 300 clinicians (30 experts participated in interviews,270 completed questionnaires). The survey primarily covered the admission of cervical cancer patients,patient stage and pathology types,biomarker testing,treatment strategies for locally advanced,recurrent,or metastatic cervical cancer (including first-,second- or later-line settings). It also covered clinicians’ insights regarding immune checkpoint inhibitors (ICI) and antibody-drug conjugates (ADC). Results A total of 270 valid questionnaires and 30 valid expert interviews were obtained. At diagnosis,early-stage (ⅠA1-ⅠB2,ⅡA1),locally advanced (ⅠB3,ⅡA2-ⅣA),and recurrent/metastatic (ⅣB) cervical cancer (r/m CC) accounted for 32.2%,35.8%,and 31.9%,respectively. Squamous cell carcinoma was predominant (74.9%). Among the patients,75.0% were recommended for programmed death-ligand 1 (PD-L1) and other biomarker testing,with an actual testing rate of 53.7%. For locally advanced cervical cancer,concurrent chemoradiotherapy (CCRT) with or without ICIs was the first choice. For r/m CC,first-line treatment was mainly ICI combined with chemotherapy±anti-angiogenic agents (71%). For second- or later-line treatment,combination regimens predominated (approximately 75%). Among patients not previously treated with ICIs,chemotherapy combined with ICIs was the first choice,with chemotherapy combined with ICIs and chemotherapy combined with anti-angiogenic agents accounting for 37% and 34% of cases,respectively. For patients with prior ICI exposure,chemotherapy combined with ICIs and chemotherapy combined with anti-angiogenic agents were the first choices at 30% and 23%,respectively;regimens containing ADCs accounted for approximately 30%. Conclusions This study reveals the current status of cervical cancer diagnosis and treatment in China,highlighting gaps in biomarker testing recommendations and clinical application. It identifies core considerations and treatment options for locally advanced and r/m CC in first-line,providing data support for advancing standardized clinical practice.

  • Chinese Journal of Practical Gynecology and Obstetrics. 2026, 42(1): 70-75. https://doi.org/10.19538/j.fk2026010116
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  • Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(9): 914-919. https://doi.org/10.19538/j.fk2025090112
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  • REN Chang, SUN Da-wei
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(7): 679-683. https://doi.org/10.19538/j.fk2025070102
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    Laparoendoscopic single-site surgery (LESS),which achieves minimally invasive effect through a single access port ,demonstrates significant advantages in gynecology,including better cosmesis,rapid recovery,and potential fertility preservation. Studies confirm that LESS exhibits comparable safety to conventional laparoscopy in ovarian cystectomy,myomectomy,and cervical cancer surgery,with shorter hospital stay. Its indications include adnexal surgery,hysterectomy,early-stage malignancies,and pelvic floor reconstruction.Pre-bent instruments and robot-assisted techniques (R-LESS)further address the "chopstick effect" and the limited maneuverability. Future advancements in instrument innovation,guideline standardization,and remote surgical technology will expand LESS applications in complex gynecological diseases.

  • HOU Qian-nan, HE Li
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(7): 706-710. https://doi.org/10.19538/j.fk2025070109
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    Transvaginal natural orifice transluminal endoscopic surgery (vNOTES),as an innovative minimally invasive technique in gynecology,enables scarless operations through endogenous pathways. However,its clinical application is limited by the mechanical coupling effect and the lack of a triangle of support in traditional single-port instruments. The robotic surgical system,with its multi-degree-of-freedom wristed instruments,three-dimensional high-definition imaging,and motion scaling technology,effectively addresses the vision-operation axis collinearity challenge of vNOTES and overcomes the spatial constraints within narrow cavities. Based on evidence-based medical evidence,this article systematically analyzes the key technical advantages of different robotic surgical platforms in various gynecological procedures. With the iterative improvement in miniaturized intracavitary robots and cross-modal surgical navigation systems,robotic vNOTES is driving gynecological surgery towards ultra-minimally invasive and intelligent directions,providing innovative solutions to high-risk procedures such as radical resection of malignant tumors.

  • PENG Jing, CHEN Yi-song
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(7): 687-691. https://doi.org/10.19538/j.fk2025070104
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    Transvaginal natural orifice transluminal endoscopic surgery (vNOTES) has emerged as a rapidly advancing technique in gynecology,demonstrating unique advantages in the surgical management of pelvic organ prolapse (POP). By integrating with conventional vaginal surgical approaches,vNOTES significantly expands the depth and scope of pelvic floor reconstruction while simultaneously reducing postoperative pain and accelerating recovery. However,its implementation demands proficiency in both single-port laparoscopic techniques and vaginal surgery,necessitating a substantial learning curve. With the increasing adoption of single-port laparoscopy and robotic-assisted platforms,the utilization of vNOTES for POP is expected to gain wider clinical acceptance.

  • YANG Hai-lan, HAN Yu
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(9): 879-883. https://doi.org/10.19538/j.fk2025090104
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    Postpartum hemolytic uremic syndrome refers to a serious life-threatening syndrome characterized by acute microvascular hemolytic anemia,thrombocytopenia,and acute renal failure that occurs after childbirth.If not treated,it will lead to a mortalityrate of up to 90%.The etiology is still unknown.Current research suggests that endothelial dysfunction,coagulation fibrinolysis imbalance,and abnormal activation of the complement system are the main pathogenesis of this syndrome.Although the incidence is extremely low,the mortality rate is high and the treatment options are limited.In recent years,with the deepening of research on the complement system,new treatment methods such as complement inhibitors have brought new hope to PHUS patients.This article elaborates and discusses its pathogenesis,diagnosis and treatment.

  • LI Juan, WEI Qi, LI Jing-ran, ZHANG Ying, TANG Zhi-xia, ZOU Lin-bing, HONG Ming-yun
    Chinese Journal of Practical Gynecology and Obstetrics. 2025, 41(9): 946-951. https://doi.org/10.19538/j.fk2025090117
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    Objective To investigate the application value of single nucleotide polymorphism (SNP)linkage analysis based on next-generation sequencing (NGS) technology in preimplantation genetic testing (PGT)of families with autosomal dominant polycystic kidney disease (ADPKD)induced by novel mutations. Methods A family with ADPKD induced by novel mutations was selected,and whole exome sequencing and karyotyping were used to determine the pathogenic mutations of the family. To block the inheritance of the disease,blastocyst culture was performed after in vitro fertilization,blastocyst trophoblast cell samples were biopsied,and multiple annealing and looping-based amplification cycles were used for whole genome amplification of the biopsied cells. Sanger sequencing and next-generation sequencing(NGS)-based single nucleotide polymorphism (SNP) haplotyping were used to detect the state of the gene mutations. Copy number variation (CNV) analysis was used for chromosomal aneuploidy screening of the embryos. Prenatal diagnosis in the second trimester of pregnancy was preformed to verify the PGT outcomes. Results A novel c.2098-2A>G mutation in PKD1 gene was found in the proband. A total of 3 blastocysts formed after intracytoplasmic sperm injection were biopsied. One blastocyst was mutation-free and euploid,and the euploid embryo underwent frozen embryo transplantation (FET) to achieve clinical pregnancy. Prenatal diagnosis in the second trimester confirmed that the fetus did not carry heterozygous PKD1 gene c.2098-2A>G mutation. Conclusions Our study is the first PGT report targeting the PKD1 gene c.2098-2A>G mutation,which extends the mutation spectrum of PKD1 gene and provides a new line of thinking about the molecular diagnosis and genetic counseling for ADPKD. Combining NGS-based SNP haplotyping for PGT-M with invasive prenatal diagnosis is an effective approach to block the vertical transmission of ADPKD and can be applied to prevent other monogenic genetic diseases.