Archives of Gynecology and Obstetrics最新文献

{"title":"The combined impact of meconium stained amniotic fluid and small for gestational age on delivery outcomes.","authors":"Gal Cohen, Adi Shilony, Reut Batia Amrami, Tal Biron-Shental, Michal Kovo, Hanoch Schreiber","doi":"10.1007/s00404-025-07995-8","DOIUrl":"10.1007/s00404-025-07995-8","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the delivery complications in neonates with meconium stained amniotic fluid (MSAF) and small for gestational age (SGA) birthweight.</p><p><strong>Methods: </strong>The medical records of all term, singleton deliveries during 2014-2021 were reviewed. Obstetric characteristics and neonatal outcomes were evaluated among the following groups: SGA neonates with MSAF (SGA-MSAF group), SGA neonates without MSAF (SGA group), appropriate for gestational age (AGA) neonates with MSAF (AGA-MSAF group) and AGA without MSAF (AGA group).</p><p><strong>Results: </strong>A total of 44,911 deliveries were included in the study, with 673 in the SGA-MSAF group, 2,762 in the SGA group, 6,958 in the AGA-MSAF group, and 34,518 in the AGA group. The SGA-MSAF group exhibited higher rates of nulliparity and hypertensive disorders compared to the SGA, AGA-MSAF, and AGA groups (p ≤ 0.001). Oligohydramnios, labor induction, vacuum extractions (VE), and intrapartum cesarean deliveries (CD) were significantly more frequent in the SGA-MSAF group compared to the SGA, AGA-MSAF, and AGA groups (p ≤ 0.003). The SGA-MSAF group had the highest rates of adverse composite neonatal outcomes compared to the SGA, AGA-MSAF, and AGA groups (p < 0.001). Multivariable logistic regression, adjusted for confounders, revealed increased ORs for the adverse neonatal composite outcome, VE, VE due to NRFHR, intrapartum CD, and CD due to NRFHR, in the presence of MSAF or SGA, and mostly when both risk factors were present (p ≤ 0.002).</p><p><strong>Conclusion: </strong>Deliveries complicated with MSAF and SGA were associated with increased obstetric complications compared to each alone. Clinicians should be aware of this and manage labor accordingly.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":"219-228"},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12176999/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perinatal outcomes of twin pregnancies in women with a unicornuate uterus.","authors":"Si Wang, Qing Hu, Hua Liao, Haiyan Yu","doi":"10.1007/s00404-025-08001-x","DOIUrl":"10.1007/s00404-025-08001-x","url":null,"abstract":"<p><strong>Objective: </strong>A unicornuate uterus is a type of Müllerian anomaly and is associated with adverse pregnancy outcomes. However, the perinatal outcomes of twin pregnancies in women with a unicornuate uterus remain unknown, and previous studies on women with a unicornuate uterus have focused mostly on those with singleton pregnancies. This research aimed to investigate the perinatal outcomes of twin pregnancies in women with a unicornuate uterus.</p><p><strong>Methods: </strong>From January 2013 to December 2022, 283 women with a unicornuate uterus, including 21 with twin pregnancies (Group A), 262 with singleton pregnancies (Group B), and 105 with twin pregnancies and a normal uterus (Group C) were enrolled in this study and gave birth at West China Second University Hospital, Sichuan University. General characteristics and perinatal outcomes were retrospectively analysed using SPSS version 22.0.</p><p><strong>Results: </strong>Among the 21 women with twin pregnancies and a unicornuate uterus, 20 (95.2%) had dichorionic diamniotic twins, and 1 (4.8%) had monochorionic diamniotic twins. Seventeen patients (81.0%) conceived by in vitro fertilization-embryo transfer (IVF-ET), and 4 patients (19.0%) conceived naturally. The mean gestational age at delivery was 33.8 ± 5.7 weeks, and 19 patients (90.5%) underwent caesarean section. The twin group (A) had significantly higher rates of preterm premature rupture of membranes (38.1%, 8/21), preterm delivery (85.7%, 18/21) (preterm delivery was defined as a birth occurring after 28 weeks and before 37 completed weeks of gestation), and neonatal intensive care unit (64.3%, 27/42) admission than Groups B and C (p < 0.05). Moreover, the live birth weight in Group A (1931.7 ± 535.2 g) was lower than that in Groups B and C (p < 0.001).</p><p><strong>Conclusion: </strong>The incidence of complications and the risk of adverse perinatal outcomes in women with twin pregnancies and a unicornuate uterus are greater than those in women with singleton pregnancies and a unicornuate uterus and women with twin pregnancies and a normal uterus. Thus, maternal and foetal monitoring during pregnancy should be strengthened to achieve good outcomes.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":"229-236"},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12176939/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143676713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The prospective sonographic assessment of the lower uterine segment after cesarean section and its clinical utility.","authors":"Stephan Spahn, Alex Horky, Dianita Sugiyo, Franz Bahlmann, Ammar Al Naimi","doi":"10.1007/s00404-025-07963-2","DOIUrl":"10.1007/s00404-025-07963-2","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to investigate the sonographic features of the lower uterine segment (LUS) and their association with successful vaginal birth after a cesarean section (VBAC).</p><p><strong>Methods: </strong>This is a prospective observational cohort study of women who underwent a first cesarean section (CS). Inclusion criteria were age over 18 years and open family planning. Women with a history of any additional uterine surgery, as well as a vertical or inverted T uterotomy during the CS were excluded. A pregestational transvaginal sonography, followed by serial transabdominal ultrasound examinations at the first, second, and third trimesters upon starting a new pregnancy were performed. Each intra-gestational examination involved measuring the LUS on a sagittal plane over a length of 3 cm starting from the most inferior identifiable part of the myometrium behind a full bladder. Logistic regression was performed to test the association between measures of the LUS and successful vaginal birth after CS.</p><p><strong>Results: </strong>96 women with a follow-up pregnancy within 2 years of the initial CS were included in the analysis. The pregestational RMT ratio was 62% and 38 (39%) women had a niche. The median thickness of the lower uterine segment was 8.34 mm (5.57-9.77), 4.75 mm (4.02-5.95), and 2.55 mm (2.01-3.55) at the first, second and third trimester, respectively. 70 women attempted VBAC and the risk of unplanned repeat CS was 37.1%. One millimeter increase in LUS thickness in the first trimester increased the odds of VBAC by 50-120% depending on the used measure (p < 0.05). This association weakened with increasing gestational age and the p values increased above 0.05.</p><p><strong>Conclusion: </strong>There is a good chance of successful VBAC for women attempting it. The sonographic assessment of the lower uterine segment during pregnancy could be helpful in counseling these women, albeit it seems that performing ultrasound during the first trimester is more informative than second and third trimesters.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":"159-166"},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12177004/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143073793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Global prevalence of stillbirth among fetuses from twin pregnancies: a systematic review and meta-analysis.","authors":"Nader Salari, Mahan Beiromvand, Reza Abdollahi, Mahvan Hemmati, Pegah Heidarian, Kimia Hashemian, Shamarina Shohaimi, Masoud Mohammadi","doi":"10.1007/s00404-025-07982-z","DOIUrl":"10.1007/s00404-025-07982-z","url":null,"abstract":"<p><strong>Background: </strong>Evidence shows that twin pregnancy is associated with increased adverse outcomes, including stillbirth. The present study aimed to investigate the global prevalence of stillbirth among fetuses resulting from twin pregnancies through a systematic review and meta-analysis.</p><p><strong>Methods: </strong>To identify relevant studies, we adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We searched databases including PubMed, Web of Science, Google Scholar, Scopus, Embase, and Science Direct using keywords such as \"stillbirth,\" \"twin pregnancy,\" \"fetus,\" and \"prevalence\" without applying any time constraints to the search. The quality of the articles was evaluated using the STROBE checklist. To ensure the reliability of our findings, we employed a random-effects model for analysis, and the heterogeneity of the studies was assessed using the I² index. Data analysis was conducted using Version 2 of Comprehensive Meta-Analysis software.</p><p><strong>Results: </strong>In a review of 10 studies with a sample size of 627,797 people, our meta-analysis revealed a global prevalence of stillbirth among fetuses resulting from twin pregnancies, reported to be 1.4% (95% CI 0.9-2.1). Our study also showed that with increasing sample size and years of study, the global prevalence of stillbirth among fetuses resulting from twin pregnancies decreased (p < 0.05). The highest prevalence of stillbirth, 3.5 (95% CI 2.2-5.4), was reported in the monochorionic type.</p><p><strong>Conclusion: </strong>The occurrence of stillbirth in twin pregnancies is a significant health concern for countries worldwide. Identifying its prevalence and contributing factors can aid health planning and policy development.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":"9-16"},"PeriodicalIF":2.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12176910/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143466770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation and feasibility of diagnostic heatflow imaging in patients with palpable breast lesions: a pilot study.","authors":"Patrik Pöschke, Axel Boese, Katharina Seitz, Niklas Amann, Sophie Eckstein, Carla E Schulmeyer, Carolin C Hack, Felix Heindl, Hanna Huebner, Andreas Füller, Peter A Fasching, Julius Emons","doi":"10.1007/s00404-025-08093-5","DOIUrl":"https://doi.org/10.1007/s00404-025-08093-5","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer is the most common cancer in women, with early detection significantly improving outcomes. Heat flow imaging (HFI) is a non-invasive dynamic thermography method with prior tissue cooling. It has shown its potential as an additional diagnostic tool. The aim of the present study was to evaluate the feasibility of diagnostic HFI in patients with palpable breast lesions during outpatient visits.</p><p><strong>Methods: </strong>The patients presenting with palpable breast lesions at the Erlangen University Hospital were recruited between November 2023 and April 2024. Heat flow imaging was performed in addition to sonographic and mammographic imaging in routine care. Additionally, the patients completed a pain questionnaire to evaluate the comfort of the procedure. We used a two-phase study design. During the first phase, the imaging procedure was established and standardized. In the second phase, imaging footage was compared with conventional mammography, sonography, and histological findings.</p><p><strong>Results: </strong>Thirty-nine patients were recruited and 18 patients underwent final evaluation. Heat flow imaging successfully detected 7 out of 11 palpable carcinomas. Factors contributing to missed lesions and impairing image quality were inadequate cooling or improper camera positioning. The mean pain score reported during the procedure was 0.7 on a visual analog scale from 0 to 10, indicating minimal discomfort.</p><p><strong>Conclusions: </strong>Heat flow imaging is a feasible imaging method that may serve as a supplementary diagnostic tool for breast cancer detection in patients with palpable breast lesions. However, it is still considered an experimental method and its use should be limited in the context of clinical trials. Further research involving larger patient groups is required to validate these preliminary findings and to optimize image acquisition protocols.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144511479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is there a relationship between symptoms and types of endometriosis according to #ENZIAN? A comparative study of preoperative questionnaires.","authors":"Elvin Piriyev, Clara Mennicken, Sven Schiermeier, Thomas Römer","doi":"10.1007/s00404-025-08072-w","DOIUrl":"https://doi.org/10.1007/s00404-025-08072-w","url":null,"abstract":"<p><strong>Objective: </strong>The primary objective was to evaluate the relationship between these three groups and digestive symptoms. The secondary objective was to evaluate all symptoms in all groups.</p><p><strong>Study design: </strong>It was a retrospective comparative analysis of preoperative questionnaires. Three groups of patients were compared: Group 1 Patients with only peritoneal endometriosis ± adnexal adhesions and adenomyosis (P ± T and FA), Group 2 Patients with DIE, excluding the digestive system, and/or cystic ± peritoneal and adnexal adhesions and adenomyosis (O, A, B ± P, T, and FA), Group 3 Patients with DIE of the digestive system (C, FI) ± other localizations.</p><p><strong>Results: </strong>This retrospective study of 233 preoperative questionnaires explored symptom profiles across #ENZIAN-classified endometriosis types. No overall symptom differences were found, but severe dyschezia (VAS ≥ 5) correlated with bowel involvement (C compartment), dyspareunia corelated with adenomyosis (FA compartment), and chronic pelvic pain was lower in bowel DIE (Group 3) than in peritoneal/ovarian groups. Symptom questionnaires may guide surgical referral despite imaging limitations.</p><p><strong>Conclusion: </strong>While these imaging modalities can help identify DIE and endometriomas, they are less effective in detecting superficial peritoneal lesions, which can also cause significant symptoms. For this reason, even though symptom questionnaires are not definitive diagnostic tools, they may serve as an important starting point for further investigation and referral for surgical evaluation.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144526252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Laparoscopic multi-bipolar radiofrequency ablation of fibroids: impact on quality of life.","authors":"Raphael Niddam, Antoine Netter, Blandine Courbière, Aubert Agostini, Laura Miquel","doi":"10.1007/s00404-025-08082-8","DOIUrl":"https://doi.org/10.1007/s00404-025-08082-8","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the effectiveness of multi-bipolar radiofrequency ablation compared to standard laparoscopic myomectomy in treating uterine fibroids, focusing on women's quality of life.</p><p><strong>Design: </strong>Retrospective observational cohort study.</p><p><strong>Setting: </strong>La Conception Hospital, APHM-Marseille, France.</p><p><strong>Patients: </strong>50 women with symptomatic fibroids treated between December 2021 and December 2023.</p><p><strong>Intervention: </strong>Laparoscopic radiofrequency ablation or conventional laparoscopic myomectomy.</p><p><strong>Measurements and main results: </strong>After excluding patients who did not complete the preoperative quality-of-life questionnaire, 34 underwent myomectomy and 16 radiofrequency ablation. At 3 months, no significant differences were observed in HRQOL improvement (9.2 ± 34.3 vs 24.2 ± 28.2, p = 0.14), SSS (- 27.5 ± 31.5 vs - 23.3 ± 33, p = 0.66), or FSFI (0.9 ± 14.7 vs - 1.5 ± 10.8, p = 0.40). The 6-month outcomes also showed no significant difference. Baseline fibroid-specific quality of life was significantly and negatively associated with improvement (p < 0.05).</p><p><strong>Conclusion: </strong>Both procedures improved quality of life and reduced fibroid-related symptoms at 3 and 6 months, with no significant difference. Myolysis showed fewer peri- and postoperative complications, suggesting a better safety profile and potential as a conservative treatment option.</p><p><strong>Trial registration: </strong>The ethics committee of Aix Marseille University approved this study on April 18, 2024, under the reference number 2024-04-18-08.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144526265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"C-reactive protein velocity and inflammatory burden index: new systemic inflammatory biomarkers and their predictive value for the latent period in preterm premature rupture of membrane pregnancies.","authors":"Dilara Duygulu Bulan, Bengu Mutlu Sutcuoglu, Gulsan Karabay, Zeynep Seyhanli, Nazan Vanli Tonyali, Halis Dogukan Ozkan, Sevki Celen","doi":"10.1007/s00404-025-08089-1","DOIUrl":"https://doi.org/10.1007/s00404-025-08089-1","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to evaluate the prognostic value of C-reactive protein velocity (CRPv) and inflammatory burden index (IBI) as novel systemic inflammatory biomarkers in predicting the latent period in pregnancies complicated by preterm premature rupture of membranes (PPROM). We investigated the role of these markers in estimating the timing of delivery and their association with perinatal and neonatal outcomes.</p><p><strong>Methods: </strong>This retrospective cohort study included 337 singleton pregnancies diagnosed with PPROM at Ankara Etlik City Hospital between January 1, 2024, and January 1, 2025. Patients were divided into two groups based on the latency period. Maternal inflammatory markers, CRPv, and IBI, were recorded and analyzed. The relationship between these inflammatory markers and latency period was assessed, and ROC curve analysis was performed to determine optimal cutoff values.</p><p><strong>Results: </strong>CRPv and IBI values were significantly higher in patients with a latency period of less than 48 h compared to those delivering after 48 h (p < 0.001). ROC analysis revealed that CRPv > 0.17 had 70% sensitivity and 67% specificity in predicting delivery within 48 h (AUC = 0.675, p < 0.001), while IBI > 35.8 demonstrated predictive accuracy for early delivery (AUC = 0.563, p = 0.047).</p><p><strong>Conclusion: </strong>CRPv and IBI are promising inflammatory biomarkers for predicting the latency period in PPROM pregnancies. Their incorporation into clinical management may improve risk stratification, aiding in timely interventions to optimize maternal and neonatal outcomes. Further prospective studies are warranted to validate these findings and explore their integration into standard obstetric care.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144511478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"About the management of patients with wandering spleen in pregnancy and postpartum.","authors":"Brunialti Daniela, Prader Sonia","doi":"10.1007/s00404-025-08009-3","DOIUrl":"https://doi.org/10.1007/s00404-025-08009-3","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to review the literature with regard to the management and outcome in pregnant and postpartum females with wandering spleen.</p><p><strong>Methods: </strong>The literature was reviewed for articles regarding the following search terms: 'pregnancy', 'postpartum', 'torsion' and 'wandering spleen'.</p><p><strong>Results: </strong>17 articles were found in medical literature from 1907 to 2022. Case reports were divided up into 2 groups: antepartum group that counts 12 articles and the postpartum group with 5 articles. The median age of these females was 28 years. All patients had symptoms across both groups: abdominal pain (n=13), vomiting (n=5), thrombocytopenia (n=4), nausea (n=3) and thrombocytosis (n=2). 16 patients underwent splenectomy and 1 pregnant woman received conservative management during pregnancy. 15 patients had no post-operative complications. 1 woman had an incomplete abortion in the 1 st trimester and 1 female a stillbirth in the 3 rd trimester.</p><p><strong>Conclusion: </strong>Wandering spleen in pregnancy and in puerperium is a rare condition with many different possible manifestations. Up to now literature has favored laparoscopic or open splenectomy as treatment for it. From asymptomatic patients to urgent and emergent cases, the diagnosis of a wandering spleen must be included when a pregnant or postpartum woman complains about an abdominal palpable mass and recurrent abdominal pain.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144473933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical application of expanded carrier screening based on next-generation sequencing in the Chinese population.","authors":"Jiali Lu, Jiangrong Chen, Li Mei, Jingyu Zhao, Changhong Wang, Cuihong Ma, Shanshan Luan, Yang Wan","doi":"10.1007/s00404-025-08100-9","DOIUrl":"https://doi.org/10.1007/s00404-025-08100-9","url":null,"abstract":"<p><strong>Objective: </strong>Expanded carrier screening (ECS) enables proactive identification of at-risk couples (ARCs) and individuals, facilitating informed reproductive decision-making through genetic counseling. This study evaluates the clinical utility of ECS among the population in Anhui Province, China, where its implementation remains understudied. Retrospectively analysis of genetic testing results assessed the carrier frequencies for targeted diseases, identified prevalent pathogenic genes and variants, and ARCs detection rate alongside associated reproductive choices and pregnancy outcomes.</p><p><strong>Methods: </strong>In this single-center retrospective study (June 2020-October 2023), 2,530 reproductive-aged individuals (486 couples; 1,558 individuals) underwent next-generation sequencing (NGS)-based ECS using a customized panel targeting 152 recessive monogenic disorders. Carrier rates, pathogenic variants, ARC detection, and subsequent reproductive outcomes were analyzed.</p><p><strong>Results: </strong>Overall, 38.50% (974/2,530) of participants carried ≥ 1 pathogenic/likely pathogenic (P/LP) variant. The most prevalent autosomal recessive (AR) disorders included DFNB4 (3.08%), DFNB1A (2.81%), Wilson disease (2.57%), Krabbe disease (2.37%), and phenylketonuria (2.13%). Duchenne muscular dystrophy (DMD, 0.28%) was the most common X-linked (XL) disorder. Twenty ARCs (4.12%, 20/486) were identified, including sixteen pregnant couples. Among these, 56.25% (9/16) opted for invasive prenatal diagnosis, confirming eight unaffected fetuses with healthy live births and one twin pregnancy requiring selective termination of an affected fetus. Five pregnant ARCs declined prenatal diagnosis, four of whom delivered healthy infants, while one pregnancy was terminated due to structural anomalies. Of three non-pregnant ARCs, two pursued preimplantation genetic testing for monogenic disorders (PGT-M), resulting in one healthy birth.</p><p><strong>Conclusion: </strong>Our study demonstrated that the ECS for reproductive-age individuals can identify couples and individuals at risk of conceiving a child with a recessive genetic disorder and support reproductive choices through the provision of genetic counseling to reduce the likelihood of offspring with congenital anomalies.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144473934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}