中华妇产科杂志最新文献

Objective: To explore the value of CO₂ laser therapy, photodynamic therapy, and follow-up observation in the management of cervical low-grade squamous intraepithelial lesion (LSIL). Methods: Women diagnosed with cervical LSIL and high risk human papillomavirus (HR-HPV) infection through colposcopy-guided biopsy from January 1, 2021 to December 31, 2023 were collected. According to a 1∶1 ratio, 107 cases were included in each of the laser treatment, photodynamic therapy, and follow-up groups. The complete remission rate and HR-HPV clearance rate were compared during the 6-12 months follow-up period. Results: (1) Comparison of clinical data among the three groups before treatment: the median age of the 321 patients was (34.9±8.1) years. Before treatment, cytological abnormalities were present in 51.7% (166/321) of patients, and 35.2% (113/321) had human papillomavirus (HPV) 16/18 infections. The accuracy rate of colposcopic diagnosis was 69.2% (222/321). Age, cytology results, HPV 16/18 infection, and colposcopy diagnosis in the laser group, photodynamic group, and follow-up group were compared, and there were not statistically significant differences (all P>0.05). (2) During the 6-12 months follow-up period, the complete remission rate was 89.7% (96/107) in the laser group, slightly higher than the 86.9% (93/107) in the photodynamic group, with no statistical difference between the two groups (χ²=0.41, P=0.523). However, both were significantly higher than the 64.5% (69/107) in the follow-up group (χ²=19.30, P<0.001; χ²=14.63, P<0.001). The HR-HPV clearance rates in the laser and photodynamic groups were 73.8% (79/107) and 68.2% (73/107), respectively, both significantly higher than the 32.7% (35/107) in the follow-up group (χ²=36.34, P<0.001; χ²=26.99, P<0.001), but with no statistical difference between the laser and photodynamic groups (χ²=0.82, P=0.366). Conclusions: CO₂ laser therapy and photodynamic therapy are effective treatments for cervical LSIL, significantly superior to follow-up observation in terms of lesion remission and HR-HPV clearance rates. Individualized treatment plans could be developed based on the patient's age, duration of HR-HPV infection, colposcopic impression, and economic conditions.

Objective: To investigate the clinicopathological characteristics of dedifferentiated endometrial carcinoma/undifferentiated endometrial carcinoma (DDEC/UDEC) with loss of expression of SMARCA4. Methods: A total of 10 cases with loss of expression of SMARCA4 were diagnosed at Fujian Cancer Hospital between January 2019 and December 2023. A retrospective analysis was conducted on the clinical characteristics, morphology, immunophenotype, molecular classification, and prognosis. Results: (1) Clinical characteristics: among 10 cases of DDEC/UDEC with loss of expression of SMARCA4, the patients' age ranged from 48 to 65 years, with a median age of 56 years.Five cases were classified as International Federation of Gynecology and Obstetrics (FIGO) stages Ⅰ-Ⅱ, while the remaining five were categorized as stages Ⅲ-Ⅳ. (2) Pathological features: tumor cells exhibited poor cell adhesion, with common intravascular tumor emboli (8/10), occasional vacuolated nuclei (6/10), rhabdoid cells (4/10), and starry sky phenomenon formed by tissue cell phagocytosis apoptosis bodies or fragments (4/10). Six cases (6/10) showed loss of mismatch repair (MMR) protein expression, two cases (2/10) exhibited p53 mutant expression, and five cases (5/10) tested positive for programmed cell death ligand 1 (PD-L1). (3) Molecular subtyping: molecular subtyping revealed POLEmut in 1 case (1/10), mismatch repair deficient (MMR-d) in 5 cases (5/10), p53 abn in 1 case (1/10), and no specific molecular profile (NSMP) in 3 cases (3/10). (4) Prognosis: the follow-up period ranged from 7 to 42 months, with a median of 20 months. Five patients succumbed to the tumor, whereas the remaining five exhibited no recurrence during subsequent postoperative evaluations. The 2-year progression-free survival rates and overall survival rates were 58.3% and 52.5%, respectively. Conclusions: Loss of expression of SMARCA4 occurs in approximately 1/5 of DDEC/UDEC, which presents with an aggressive clinical course and a poor prognosis. About half of them show MMR protein loss expression and PD-L1 positive expression, suggesting that there might be benefit from treatment with immune checkpoint inhibitors.

Objective: To determine the carrier frequency and hot-spot variants of a custom-designed expanded carrier screening (ECS) panel with 216 diseases (216-ECS panel) within a Chinese population of childbearing age. Methods: Whole-exome sequencing data from a cohort of 3 097 unrelated healthy individuals (including 1 424 couples) from Peking Union Medical College Hospital between January 2013 and December 2023 were analyzed. Totally 220 genes which inherited in a recessive manner of 216-ECS panel were included in the analysis. The analysis included variant carrier rate, gene carrier rate, cumulative carrier rate, at-risk couple rates, and variant spectrum. Results: (1) Pathogenic variants were identified in 1 472 (47.53%, 1 472/3 097) individuals, with an average of 0.65 pathogenic variants per individual. The rate of at-risk couples was 3.93% (56/1 424). (2) A total of 180 genes were identified, with 16 genes exhibiting a gene carrier rate of ≥1% and 33 genes having a rate of ≥0.5%, most of which were associated with inherited metabolic diseases. Noteworthy genes with higher gene carrier rates and high-frequency variants included GJB2: c.235del, PAH: c.728G>A, ATP7B: c.2333G>T, SLC26A4: c.919-2A>G, GALC: c.1901T>C, POLG: c.2890C>T, SLC22A5: c.1472C>G, USH2A: c.2802T>G, SLC25A13: c.852_855del, GAA: c.761C>T and c.752C>T. Conclusion: This study offers a focused analysis of carrier frequencies and hot-spot variants of 216 diseases of the ECS panel constructed by our laboratory among the Chinese population, laying a foundation for the development of ECS programs tailored to the Chinese population.

Objective: To preliminarily investigate the clinical outcomes of secondary loop electrosurgical excision procedure (LEEP) combined with transcervical resection of endocervical tissue (i.e., second combined surgeries) in patients with positive endocervical margins following the initial LEEP for high-grade squamous intraepithelial lesion (HSIL) or adenocarcinoma in situ (AIS) of the cervix. Methods: Patients who underwent second combined surgeries due to positive endocervical margins after the initial LEEP for cervical HSIL or AIS at Obstetrics and Gynecology Hospital, Fudan University between August 2015 and September 2023 were included. Postoperative cytological examinations, high-risk human papillomavirus (HR-HPV) testing, colposcopic biopsy results, and cervical canal length were followed up to evaluate the clinical efficacy of second combined surgeries. Results: (1) General clinical data: a total of 67 patients were enrolled, including 34 with cervical HSIL (HSIL group) and 33 with AIS (AIS group). In the HSIL group before the time of initial LEEP, the mean age was (41.3±5.3) years, with all patients positive for HR-HPV preoperatively. Preoperative cytology results revealed ≤low-grade squamous intraepithelial lesion (LSIL) in 13 cases and ≥HSIL in 21 cases. The preoperative cervical canal length was (3.71±0.17) cm. Patients in the AIS group before their the first LEEP were at an average age of (39.1±8.7) years old, with preoperative HR-HPV positive. Among them, 16 cases showed preoperative cytological results of ≤LSIL, while 17 cases showed ≥HSIL. The preoperative cervical canal length was (3.64±0.21) cm. (2) Pathological findings and postoperative follow-up of the HSIL group following second combined surgeries:in the HSIL group, the residual rate of HSIL in the endocervical canal tissue (ECT) was 24% (8/34). Out of the 34 HSIL patients, 10 cases (29%, 10/34) remained with positive endocervical margins post-second combined surgeries. Among these 10 patients, 5 cases (5/10) had no lesion detected in ECT, while the remaining 5 cases (5/10) exhibited HSIL in their ECT. Conversely, 24 patients (71%, 24/34) had negative endocervical margins after second combined surgeries. Of these 24 patients, 3 cases (12%, 3/24) were found to have HSIL in ECT, and 21 cases (88%, 21/24) had no lesion in ECT. During follow-ups conducted at 6 and 12 months post-second combined surgeries, the clearance rates of HR-HPV were 91% (31/34) and 100% (34/34), respectively. Notably, among the 29 patients (85%, 29/34) who were followed up for a period of 2 years or longer, all cases maintained a consistently negative HR-HPV status, highlighting the effectiveness of second combined surgeries in achieving long-term HR-HPV clearance (100%, 29/29). (3) Pathological findings and postoperative follow-up of the AIS group following second combined surgeries: the residual rate of AIS in the ECT following second combined surgeries among AIS patients was 15% (

Objective: To explore diagnostic value of prenatal ultrasound screening in velamentous umbilical cord insertion (VCI) and its influence on perinatal outcomes, and to provide theoretical basis for clinical practice. Methods: Fifty-eight pregnant women diagnosed with VCI before or after delivery admitted to the First Affiliated Hospital of Xi'an Jiaotong University were selected from January 2012 to December 2022. The clinical features and perinatal outcomes of 45 women finally with VCI after delivery (VCI group) were retrospectively analyzed, and 225 women with normal umbilical cord attachment were selected as the control group during the same period. Results: (1) Among 58 women, 54 (93.1%, 54/58) were diagnosed with VCI by prenatal ultrasound screening, 4 patients (6.9%, 4/58) were missed; and 13 (22.4%, 13/58) were misdiagnosed. Finally, a total of 45 women were confirmed by postpartum placental examination, and 11 (24.4%,11/45) were combined with vasa previa. (2) There were no differences in age, number of pregnancies, and number of induced abortions between the two groups (all P>0.05). Compared with the control group, the rate of assisted reproductive technology [13.3% (6/45) vs 0.4% (1/225); P<0.01], and twin pregnancy rate [8.9% (4/45) vs 0.4% (1/225); P<0.01] in the VCI group were significant higher. (3) Compared with the control group, the rate of placenta previa, succenturiate placenta, vasa previa, postpartum hemorrhage, prenatal hemorrhage and postpartum intrauterine remainder in the VCI group were significant higher (all P<0.05); there was no significant difference in the incidence of placental abruption, premature rupture of membranes, fetal distress and single umbilical artery between the two groups (all P>0.05). The incidence of fetal structural abnormalities in the VCI group (4.4%, 2/45) was higher than that in the control group (1.3%, 3/225), but there was no significant difference between the two groups (P=0.195). (4) The cesarean section rate [75.0% (33/44) vs 45.1% (101/224); P<0.01], preterm birth rate [29.5% (13/44) vs 5.4% (12/224); P<0.01], rate of small for gestational age [20.5% (9/44) vs 5.4% (12/224); P<0.01] in the VCI group were significant higher. However, neonatal birth weight [(2 928±552) vs (3 353±498) g; P<0.01], and 1-minute Apgar score (median: 10 vs 10; P<0.01) in the VCI group were lower than those in the control group. Conclusions: Prenatal ultrasound screening is an important method to diagnose VCI. VCI is more prone to adverse pregnancy outcomes, such as postpartum hemorrhage, premature delivery, small for gestational age, et al. Its risk factors include twin pregnancy, assisted reproductive technology, placenta previa, and para-placenta.