中华妇产科杂志最新文献

{"title":"[Influencing factors of resampling failure for non-invasive prenatal testing and its influence on pregnancy outcomes].","authors":"C Liu, Y P Wang, L Y Zou, C H Yin","doi":"10.3760/cma.j.cn112141-20240822-00464","DOIUrl":"https://doi.org/10.3760/cma.j.cn112141-20240822-00464","url":null,"abstract":"<p><p><b>Objective:</b> To evaluate the factors influencing test failure after resampling in non-invasive prenatal testing (NIPT) and to explore its impact on pregnancy outcomes. <b>Methods:</b> The information of pregnant women who failed to undergo NIPT for the first time and resampled for testing in Beijing Obstetrics and Gynecology Hospital, Capital Medical University from January 2018 to January 2022 were collected and retrospectively analyzed. According to the results of resampled NIPT, the pregnant women were divided into the failure group (170 cases) and the success group(485 cases), and the general clinical data and pregnancy outcomes of the two groups were compared. <b>Results:</b> (1) A total of 88 928 pregnant women underwent NIPT in Beijing Obstetrics and Gynecology Hospital during the study period, of which 1 299 (1.461%, 1 299/88 928) failed in the first NIPT. Among the 1 299 pregnant women who failed in the first NIPT, 720 were resampled for testing. Finally, 655 pregnant women who met the inclusion criteria and had complete clinical information and perinatal outcomes were collected. The success rate of resampling was 74.0% (485/655). Compared with the success group, the pregnant women in the failure group had a later gestational age at resampling, a higher pre-pregnancy body mass index (BMI) and a higher fetal fraction, and the differences were statistically significant (all <i>P</i><0.001). (2) Among the 485 pregnant women in the success group, 130 cases (26.8%, 130/485) were detected with chromosome aneuploidy. Among the 170 pregnant women in the failure group, 8 cases had abnormal amniocentesis, 2 cases had abnormal maternal serum screening of aneuploidy in the second trimester, 3 cases had abnormal ultrasound anomaly removal, and 157 cases had no abnormality. (3) The incidence of fetal or neonatal malformation in the failure group was significantly higher than that in the success group [11.2% (19/170) vs 5.8% (28/485), <i>P</i>=0.019], but after adjusting for age and pre-pregnancy BMI, fetal or neonatal malformation was not associated with the success of resampling (<i>RR</i>=0.675, 95%<i>CI</i>: 0.346-1.319; <i>P</i>=0.250). The incidences of gestational diabetes mellitus and hypertensive disorders in pregnancy in the failure group were significantly higher than those in the success group (all <i>P</i><0.05), but after adjusting for age and pre-pregnancy BMI, only the incidence of gestational diabetes mellitus in the failure group was higher (<i>RR</i>=0.630, 95%<i>CI</i>: 0.426-0.932; <i>P</i>=0.021). <b>Conclusions:</b> For pregnant women who failed the initial NIPT, the success of the resampling test is associated with pre-pregnancy BMI and the gestational week at the time of resampling. Those who failed the resampling test are more likely to develop gestational diabetes mellitus. When providing genetic counseling for pregnant women who failed the initial NIPT, it is important to consider the successful rate of resampling","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"60 4","pages":"268-274"},"PeriodicalIF":0.0,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143961394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Analysis of risk factors for severe postpartum hemorrhage during vaginal delivery of twin pregnancy].","authors":"X Y Guo, P B Yuan, Y Wei, Y Y Zhao","doi":"10.3760/cma.j.cn112141-20241120-00616","DOIUrl":"https://doi.org/10.3760/cma.j.cn112141-20241120-00616","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the risk factors for severe postpartum hemorrhage (SPPH) during vaginal delivery of twin pregnancy. <b>Methods:</b> A retrospective analysis was conducted on clinical data from twin pregnancies ≥28 weeks' gestation undergoing vaginal delivery at Peking University Third Hospital between January 2016 and December 2023. The twin pregnant women were divided into the SPPH group (postpartum hemorrhage ≥1 000 ml within 24 hours) with 22 cases and the non-SPPH group with 171 cases. The differences between the two groups were compared and the risk factors for SPPH were analyzed. <b>Results:</b> (1) The incidence of SPPH during vaginal delivery in twin pregnancies was 11.4% (22/193). The causes of SPPH included 12 cases (54.5%, 12/22) of simple uterine atony, 4 cases (18.2%, 4/22) of uterine atony combined with vaginal lacerations after forceps delivery, and 6 cases (27.3%, 6/22) of uterine atony combined with placental factors. (2) The age and postpartum hospital stay in the SPPH group were significantly higher than those in the non-SPPH group (all <i>P</i><0.05). Compared to the non-SPPH group, the proportion of hypertensive disorders in pregnancy, accreta placenta implantation, and anemia in the SPPH group were significantly increased, and the birth weight of newborn 1st, the sum of the birth weights of two newborns, the duration of the second stage of labor, and the proportion of labor followed induction were also significantly increased (all <i>P</i><0.05). (3) Multivariate analysis showed that age ≥38 years (<i>OR</i>=16.785, 95%<i>CI</i>: 2.679-105.166; <i>P</i>=0.003), the second stage of labor ≥90 minutes (<i>OR</i>=9.670, 95%<i>CI</i>: 2.532-36.930; <i>P</i>=0.001), hypertensive disorders in pregnancy (<i>OR</i>=5.945, 95%<i>CI</i>: 1.702-20.761; <i>P</i>=0.005), and anemia (<i>OR</i>=8.048, 95%<i>CI</i>: 2.086-31.049; <i>P</i>=0.002) were independent risk factors for SPPH in twin pregnancies during vaginal delivery. <b>Conclusions:</b> Anemia should be actively corrected during twin pregnancy. For twin pregnant women with advanced age, hypertensive disorders in pregnancy, or other risk factors of SPPH, if vaginal delivery is chosen, attention should be paid to the management of labor duration, dynamic assessment of the risk of postpartum hemorrhage, and proactive measures should be taken to ensure a smooth vaginal delivery and effectively reduce the incidence of SPPH.</p>","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"60 4","pages":"260-267"},"PeriodicalIF":0.0,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143983799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Multi‑disciplinary treatment approach in cervical cancer care: chinese gynecologic oncologists consensus].","authors":"","doi":"10.3760/cma.j.cn112141-20241218-00682","DOIUrl":"https://doi.org/10.3760/cma.j.cn112141-20241218-00682","url":null,"abstract":"","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"60 4","pages":"241-259"},"PeriodicalIF":0.0,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143978608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Ongoing pregnancy rate with intervention and expectant therapy in patients with unexplained recurrent spontaneous abortion: a prospective multicenter cohort study].","authors":"J X Jiang, P Y Liu, Y Liao, X M Zhong, S S Fan, L Q Feng, Y X Wang, Y Y Zhang, Q Wang","doi":"10.3760/cma.j.cn112141-20241104-00584","DOIUrl":"https://doi.org/10.3760/cma.j.cn112141-20241104-00584","url":null,"abstract":"<p><p><b>Objective:</b> To observe the pregnancy outcomes of patients with unexplained recurrent spontaneous abortion (URSA) after interventional treatment or expectant treatment. <b>Methods:</b> This prospective study followed up 398 patients with recurrent spontaneous abortion from March 2017 to September 2022 in seven hospitals. Among them, 267 patients were diagnosed with URSA, including 124 patients who were initially diagnosed in the interventional treatment hospital and 143 patients who were initially diagnosed in the expectant treatment hospital. All URSA patients were followed up for 33 months. Ongoing pregnancy rates were observed as main outcome indicators. <b>Results:</b> A total of 127 patients became pregnant, and 107 of them had sustained pregnancies, the ongoing pregnancy rate was 84.25% (107/127). The ongoing pregnancy rate was 86.11% (31/36) in the interventional treatment group and 83.52% (76/91) in the expectant treatment group, with no significant difference (<i>P</i>>0.05). During the follow-up, the ongoing pregnancy rates in the interventional treatment hospital and the expectant treatment hospital were 75.71% (53/70) and 94.74% (54/57), respectively, with a significant difference (<i>P</i><0.05). The ongoing pregnancy rate after interventional treatment in the interventional treatment hospital was 82.76% (24/29), which was similar to the 94.00% (47/50) after expectant treatment in the expectant treatment hospital (<i>P</i>>0.05). <b>Conclusion:</b> The ongoing pregnancy rate of interventional treatment for URSA patients has not been significantly improved, suggesting that it may not be necessary to carry out this treatment.</p>","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"60 4","pages":"289-296"},"PeriodicalIF":0.0,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143979286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Clinical analysis of 10 cases of pregnancy complicated with Behçet's disease].","authors":"P P Jiang, N Gu, J Fang, H Zhou, Y M Dai","doi":"10.3760/cma.j.cn112141-20241015-00557","DOIUrl":"https://doi.org/10.3760/cma.j.cn112141-20241015-00557","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinical characteristics of pregnancy complicated with Behçet's disease, so as to improve the diagnosis and treatment of the disease and improve maternal and neonatal outcomes. <b>Methods:</b> A retrospective analysis was conducted on the clinical data of 10 pregnant women with Behçet's disease, who were admitted to Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School from January 2016 to June 2024. The maternal and neonatal outcomes were analyzed. <b>Results:</b> The 10 pregnant women with Behçet's disease had a mean age of (31.2±5.3) years (range: 25-41 years). Nine were diagnosed before pregnancy and one was diagnosed during the second trimester of pregnancy. The mean age of disease onset was (20.5±6.1) years (range: 10-34 years). Clinical manifestations included oral ulcers, genital ulcers, fever, uveitis, hematochezia, diarrhea, constipation, and skin rash. Nine of them received medication during pregnancy, while one did not. The disease conditions of five women were active during pregnancy and other five remained stable. In terms of delivery mode, five women had vaginal delivery and five delivered by cesarean section. Nine delivered at term and one had preterm delivery. All neonates survived without adverse outcomes. <b>Conclusions:</b> The management of pregnancy complicated with Behçet's disease requires a multidisciplinary team approcach. Individualized decisions regarding medication, timing of delivery, and mode of delivery are essential to achieve optimal maternal and fetal outcomes.</p>","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"60 4","pages":"275-280"},"PeriodicalIF":0.0,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143978813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Clinical application of transvaginal core needle biopsy for pelvic masses under finger guidance via vagino-recto-abdominal examination].","authors":"Y Q Zhang, X Y Deng, P Guan, Z H Zhang, Q L Wen, D Li","doi":"10.3760/cma.j.cn112141-20241021-00563","DOIUrl":"https://doi.org/10.3760/cma.j.cn112141-20241021-00563","url":null,"abstract":"<p><p><b>Objective:</b> To explore the feasibility of transvaginal core needle biopsy for pelvic masses under finger guidance during a vagino-recto-abdominal examination. <b>Methods:</b> The clinicopathological data and follow-up information of 29 patients with pelvic masses who underwent transvaginal core needle biopsy under finger guidance during a vagino-recto-abdominal examination at Affiliated Hospital of Southwest Medical University from January 2020 to July 2024 were collected, and the safety and diagnostic accuracy of the procedure were retrospectively analyzed. <b>Results:</b> (1) A total of 29 patients with pelvic masses were enrolled in this study, with a median age of 50 years (range: 29-73 years), and a median tumor diameter of 3.9 cm (range: 2.7-13.3 cm). Among these patients, 7 were newly diagnosed, and 22 were follow-up. The pre-procedure disease types included 21 patients (72%, 21/29) cervical cancer, 6 patients (21%, 6/29) epithelial ovarian cancer, and 2 patients (7%, 2/29) other suspected gynecologic tumors. (2) Among 29 patients with pelvic masses, 8 cases (28%, 8/29) were diagnosed with benign diseases according to core needle biopsy pathological findings, and 1 case suggested possible residual cervical cancer in the parametrial region by contrast-enhanced magnetic resonance imaging after radical chemoradiotherapy 3 months, while the result of core needle biopsy for this patient was negative, with follow-up after 1 year revealed progression of the lesion in the right parametrial area. Another patient underwent fine-needle aspiration cytology, which suggested gastrointestinal stromal tumor, requiring differentiation from endometriosis, and core needle biopsy pathology confirmed endometriosis, with follow-up at 6 months revealed no evidence of malignancy in this patient. The remaining 6 patients with benign diagnoses had follow-up periods exceeding 1 year without imaging or clinical evidence of local lesion progression or malignancy. Among the 21 patients (72%, 21/29) diagnosed with malignant tumors by core needle biopsy, 14 cases were suspected cases of residual or recurrent cervical cancer, 6 cases had advanced ovarian cancer, and 1 case had rectal cancer metastasis, with all biopsy diagnoses being consistent with preoperative clinical findings and imaging results. The overall diagnostic accuracy of the core needle biopsy was 97% (28/29). Among the 7 newly diagnosed patients, the diagnostic accuracy was 7/7, while it was 95% (21/22) for the 22 follow-up patients, with no statistically significant difference observed between the two groups (<i>P</i>=1.000). (3) All 29 patients with pelvic masses successfully underwent transvaginal core needle biopsy guided by vagino-recto-abdominal examination. Among them, 28 cases (97%, 28/29) reported tolerable pain during the procedure, while 1 case (3%, 1/29) experienced transient syncope at the end of the procedure due to pain, which resolved within seconds. Vaginal bleeding exceeding 50","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"60 4","pages":"297-303"},"PeriodicalIF":0.0,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143965968","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Nomogram based on clinical and DCE-MRI characteristics for predicting the depth of myometrial invasion and grade of endometrioid endometrial carcinoma].","authors":"X L Ma, S Q Cai, J W Qiang, G F Zhang, J J Zhou, M S Zeng, X J Ren, R Jiang, M H Shen","doi":"10.3760/cma.j.cn112141-20241211-00658","DOIUrl":"10.3760/cma.j.cn112141-20241211-00658","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the feasibility and value of nomogram based on base line clinical and dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) characteristics for pretreatment predicting the depth of myometrial invasion and tumor grade of endometrioid endometrial carcinoma (EEC). <b>Methods:</b> Preoperative baseline clinical characteristics and DCE-MRI characteristics of 194 EEC patients were prospectively collected at Obstetrics and Gynecology Hospital, Fudan University from October 2020 to January 2022 and used as a training set. Univariate analysis was conducted to compare baseline clinical characteristics and DCE-MRI quantitative parameters [including tumor volume, and mean, median, and standard deviation of volume transfer constant (K^trans), rate constant (K_ep), extravascular extracellular volume fraction (V_e), and initial area under the enhancement curve (iAUC)] between patients with deep myometrial invasion (DMI) and those with superficial myometrial invasion (SMI), as well as between high-grade and low-grade EEC. Multivariate logistics regression analysis was used to identify independent predictors for the construction of nomogram. An independent external testing set comprising 127 EEC patients was retrospectively collected from Zhongshan Hospital, Fudan University and Zhongshan Hospital, Fudan University (Xiamen Branch). The area under the receiver operating characteristic curve (AUC) and decision curve analysis (DCA) were used for evaluating the model's predictive performance and clinical net benefit, respectively. <b>Results:</b> (1) The depth of myometrial invasion: univariate analysis showed that in the training set, the EEC patients with DMI differed significantly from those with SMI in clinical characteristics including higher proportion of postmenopausal state and overweight [body mass index (BMI)≥25 kg/m²], and abnormal levels of serum cancer antigen (CA)₁₂₅, CA₁₉₉, and human epididymis protein 4 (HE4), and in DCE-MRI quantitative parameters including tumor volume, and median, mean, and standard deviation of K^trans, median of V_e, as well as median, mean, and standard deviation of iAUC (all <i>P</i><0.05). Multivariate analysis showed that the patient's menstrual status, BMI, CA₁₉₉, tumor volume, and mean of iAUC were independent predictors of the depth of myometrial invasion, and constructed the nomogram (recorded as Nomogram_1), achieving an AUC of 0.861 (95%<i>CI</i>: 0.803-0.919) in the training set. In the independent external testing set, the AUC was 0.876 (95%<i>CI</i>: 0.815-0.938), with corresponding sensitivity of 82.0%, specificity of 80.7%, accuracy of 81.1%, positive predictive value (PPV) of 65.3%, and negative predictive value (NPV) of 91.0% for predicting DMI. (2) The EEC grade: univariate analysis showed that in the training set, high-grade EEC patients differed significantly from low-grade EEC in ","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"60 3","pages":"202-215"},"PeriodicalIF":0.0,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Safety evaluation of Chinese-made robot-assisted laparoscopic sacrocolpopexy: a single-center, small-scale, single-arm study].","authors":"L Zhang, X X Wang, X Q Wang, Q Y Zhang, L H Zhang, Y Huang, Y Lu","doi":"10.3760/cma.j.cn112141-20241214-00670","DOIUrl":"10.3760/cma.j.cn112141-20241214-00670","url":null,"abstract":"<p><p><b>Objective:</b> To describe the safety of using the Chinese-made robotic laparoscopic surgery system for laparoscopic sacrocolpopexy in the treatment of severe pelvic organ prolapse. <b>Methods:</b> A pilot descriptive clinical study was conducted, enrolling 16 severe pelvic organ prolapse patients at Peking University First Hospital from April 2023 to January 2024. Patients who consented to participate in this study underwent laparoscopic sacrocolpopexy for severe pelvic organ prolapse using Chinese-made robotic laparoscopic surgery system. Preoperative clinical basic data and perioperative data of the patients were collected, summarizing the data on perioperative bleeding and complications, and reviewed the surgical learning experience. The evaluation indicators related to the learning experience included: (1) efficiency evaluation: including equipment docking time, total surgery time, suturing time, mechanical arm operation time and hysterectomy time, which were timed and recorded during surgery; (2) equipment operability evaluation: including equipment operation task load assessment and intraoperative operation feeling score. The cumulative sum analysis method was used to quantify surgery time and fit the learning curve. <b>Results:</b> Sixteen patients were successfully enrolled and underwent surgery, including total hysterectomy with bilateral salpingo-oophorectomy or salpingectomy plus sacrocolpopexy, or sacrocolpopexy alone (for one case without uterus). The age of 16 cases was (56.7±7.6) years (ranged from 44 to 67 years), with body mass index of (25.4±2.5) kg/m². Concurrent procedures included anterior vaginal wall repair in 12 cases (12/16), posterior vaginal wall repair in 13 cases (13/16), tension-free vaginal tape obturator system in 1 case (1/16), and recto-uterine pouch hernia repair in 4 cases (4/16). The total surgery time was (355.8±91.1) minutes, with docking time at (6.7±4.9) minutes, robotic operative time at (267.6±81.4) minutes, robotic suturing time at (155.6±53.9) minutes, and hysterectomy time at (112.0±45.3) minutes. Learning curve analysis revealed inflection points at 6 cases for total surgery time (<i>P</i><0.001, <i>R</i>²=0.944) and robotic operative time (<i>P</i><0.001, <i>R</i>²=0.982), 5 cases for docking time (<i>P</i><0.001, <i>R</i>²=0.989), and 6 cases for robotic suturing time (<i>P</i><0.001, <i>R</i>²=0.907). Hysterectomy time had an inflection point at 5 cases (<i>P</i>=0.023, <i>R</i>²=0.700). Median blood loss was 30 ml (range: 10-1 000 ml), with severe bleeding in one patient (1/16). No conversions to open surgery or laparoscopy occurred, and no severe perioperative or postoperative complications were reported. <b>Conclusion:</b> The Chinese-made robotic laparoscopic surgery system demonstrates excellent short-time safety and ease of operation for laparoscopic sacrocolpopexy.</p>","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"60 3","pages":"183-192"},"PeriodicalIF":0.0,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143750109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Carrier screening and prenatal diagnosis analysis of high-risk cases in 3 044 preconception and early pregnancy couples].","authors":"X L Fu, W Hou, M L Zhang, X X Xie, Y Meng, H H Zhou, Q D Zhao, J L Hu, G P Mo, Y P Lu","doi":"10.3760/cma.j.cn112141-20240928-00531","DOIUrl":"10.3760/cma.j.cn112141-20240928-00531","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Objective:&lt;/b&gt; To carry out carrier screening among people of childbearing age, detect the pathogenic genes of monogenic genetic diseases and analyze the carrier status of pathogenic variants, so as to provide fertility guidance and intervention measures for high-risk families. &lt;b&gt;Methods:&lt;/b&gt; From August 2022 to August 2023, 1 533 families of childbearing age who met the criteria were recruited in the Chinese PLA General Hospital, including a total of 3 044 subjects. According to the standard enrollment procedure, 223 genes (197 autosomal recessive genes and 26 X-linked genes) of the subjects were tested. According to the screening results, genetic counseling and fertility guidance were provided to the subjects. Invasive prenatal diagnosis was performed for high-risk couples (both couples being carriers of the same autosomal recessive disease gene or the woman was a carrier of X-linked disease gene), and their pregnancy pattern, outcome and offspring phenotype were followed up. &lt;b&gt;Results:&lt;/b&gt; (1) A total of 3 044 cases from 1 511 couples and women of childbearing age from 22 families were included for carrier screening. Totally 1 503 families chose simultaneous screening and 30 families chose sequential screening out of the 1 533 families. Among the 3 044 subjects, 1 603 individuals carried at least one pathogenic or likely pathogenic variant, and the overall carrier rate was 52.66% (1 603/3 044). A total of 2 292 pathogenic or likely pathogenic variants were detected, and 0.75 variants (2 292/3 044) were detected per capita. (2) The three genes with the highest carrier rates were GJB2 (8.67%, 264/3 044), CYP21A2 (3.19%, 97/3 044) and PAH (3.09%, 94/3 044). There were 32 genes with a carrier rate ≥1/200, 17 genes with a carrier rate ≥1/100, and 7 genes with a carrier rate ≥1/50. (3) Thirty-eight high-risk families were identified. After excluding G6PD gene mutation, there were 33 high-risk families, of which 25 couples were carriers of the same autosomal recessive gene, 9 women were carriers of X-linked gene, and 1 family was double high-risk couple with both autosomal recessive and X-linked gene. After further excluding the GJB2 c.109G&gt;A mutation, 21 high-risk families were identified. Preimplantation genetic testing for monogenic disease was performed in 12 families after genetic counseling. Prenatal diagnosis was completed in 4 out of 5 high-risk families who conceived naturally. Two fetuses carried the parental variants and terminated the pregnancy, one fetus did not carry the parental variants but was induced due to trisomy 21 syndrome, and one fetus was a carrier of congenital disorders of glycosylation type 1a. &lt;b&gt;Conclusions:&lt;/b&gt; Carrier screening effectively identifies high-risk genetic disease families and provides reproductive guidance to prevent the birth of affected children. However, establishing multidisciplinary team is essential for managing complex cases. Implementation should prioritize prenatal institutions with gen","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"60 3","pages":"161-170"},"PeriodicalIF":0.0,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Advances of targeting EZH2 in gynecological malignancies].","authors":"Y S Jiao, C Li, Y Xiang","doi":"10.3760/cma.j.cn112141-20240815-00455","DOIUrl":"10.3760/cma.j.cn112141-20240815-00455","url":null,"abstract":"","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"60 3","pages":"236-240"},"PeriodicalIF":0.0,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}