Archives of Gynecology and Obstetrics最新文献

{"title":"Supportive care and information needs in relation to quality of life among patients with breast cancer and gynaecological cancer during the time of treatment.","authors":"Saskia-Laureen Herbert, A S Payerl, M Prange, S Löb, J Büchel, A Scherer-Quenzer, M Kiesel, A Wöckel, H Faller, K Meng","doi":"10.1007/s00404-024-07805-7","DOIUrl":"https://doi.org/10.1007/s00404-024-07805-7","url":null,"abstract":"<p><strong>Purpose: </strong>Although therapy and psychosocial care for patients with breast cancer and gynaecological cancer has improved in the last years, there are still many issues that require further investigation. Unmet supportive care needs can lead to a lower adherence to treatment and a lower quality of life. Patients' needs seem to be highest during the time of treatment. Thus, this study investigated needs and quality of life.</p><p><strong>Methods: </strong>In this German prospective study, we enrolled 292 patients with breast cancer and gynaecological cancer during the time of treatment. Data on needs were assessed using instruments that had proven feasible in earlier studies. Data on quality of life (QoL) were assessed using the European Organization for Research and Treatment of Cancer QoL Core Questionnaire (EORTC QLQ-C30). We investigated correlations between needs and sociodemographic data as well as quality of life.</p><p><strong>Results: </strong>Among all cancer entities we observed that 150 patients (51.5%) showed unmet information needs, 221 patients (75.7%) showed at least one high supportive care need, and 91 patients (31.2%) had psychological care needs. Data showed statistically significant correlations between these needs and sociodemographic data as well as quality of life. These correlations generally showed small to medium effect sizes. Older women showed less supportive care needs (r = - 0.24; p < 0.001), (r = - 0.15; p = 0.010). Furthermore, recruitment after surgery was associated with statistically significant higher information needs (r = 0.14; p = 0.015), whereas recruitment during chemotherapy was associated with statistically significant less information needs (r = - 0.15; p = 0.013). Positive correlations were shown for the level of received information and physical functioning (r = 0.12; p = 0.047), social functioning (r = 0.16; p = 0.009) and global quality of life (r = 0.19, p = 0.002) as well as satisfaction with information and physical (r = 0.16; p = 0.006), social (r = 0.24; p < 0.001), cognitive functioning (r = 0.14; p = 0.017) as well as global quality of life (r = 0.25; p < 0.001). Negative correlations were reported for information needs and emotional functioning (r = - 0.12; p = 0.035) and global quality of life (r = - 0.15; p = 0.011). Supportive care needs also correlated negatively with physical (r = - 0.23; p < 0.001), role (r = - 0.23; p < 0.001), emotional (r = - 0.35; p < 0.001), cognitive (r = - 0.24; p < 0.001), social functioning (r = - 0.30; p < 0.001), and global quality of life (r = - 0.35; p < 0.001). Also, patients with at least one high supportive care need correlated negatively with role (r = - 0.15; p = 0.014), emotional (r = - 0.23; p < 0.001), social functioning (r = - 0.30; p = 0.001), and global quality of life (r = - 0.35; p < 0.001). There was no statistical significance concerning cancer side. Thus, both groups are reported together. Furthermore, there was no statisti","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142685847","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":"Risk factors for bladder injuries during cesarean sections: insights from a 15 year experience at a tertiary care center and a systematic review with meta-analysis.","authors":"Sara Doroldi, Linda Piemonti, Marina Valeriani, Laura Larcher, Jacopo Lenzi, Elena Contro","doi":"10.1007/s00404-024-07826-2","DOIUrl":"https://doi.org/10.1007/s00404-024-07826-2","url":null,"abstract":"<p><strong>Purpose: </strong>To identify potential risk factors for bladder injury during cesarean section (CS).</p><p><strong>Methods: </strong>We conducted an observational case-control study from 2009 to 2024 at our Tertiary Care Hospital, matching each bladder injury case with four controls. Additionally, a systematic review and meta-analysis of the literature was performed using MEDLINE, CINAHL, and Scopus, from inception to 2024; eligible studies were case-control studies assessing risk factors for bladder injury during CS. Random-effects regression with the restricted maximum likelihood method was employed for the meta-analysis.</p><p><strong>Results: </strong>We identified 23 cases of bladder injury out of 15,260 CSs at our hospital, resulting in a rate of 0.15%. Women with bladder injuries were significantly older (p = 0.022), with 47.8% having a history of previous CS, while no significant differences were observed between groups regarding prior abdominal surgery, endometriosis, or body mass index. The systematic review included four case-control studies, whose data were meta-analyzed with our patients, identifying several significant predictors: adhesions (OR 18.6, 95% CI 8.86-39.0), repeated CS (OR 3.25, 95% CI 2.02-5.23), emergent procedures (OR 3.15, 95% CI 1.71-5.80), failed vaginal birth after cesarean (OR 4.74, 95% CI 2.18-10.3), second stage of labor (OR 2.78, 95% CI 1.80-4.29), and macrosomia (OR 2.64, 95% CI 1.25-5.57).</p><p><strong>Conclusions: </strong>Key risk factors for cesarean bladder injury include prior CSs, adhesions, second stage of labor, macrosomia, failed VBAC, and emergent procedures. Identifying these risk factors is critical for preoperative assessment and counseling, allowing for better surgical planning and improved outcomes.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142680866","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":"Evaluation of uterocervical angle in intrauterine device displacement cases.","authors":"Burcu Dincgez, Fatma Ketenci Gencer","doi":"10.1007/s00404-024-07823-5","DOIUrl":"https://doi.org/10.1007/s00404-024-07823-5","url":null,"abstract":"<p><strong>Purpose: </strong>Intrauterine device is one of the most preferred birth control method in the world. Being able to predict that the intrauterine device will not dislocate is very important in terms of preventing unwanted pregnancies. Here, we evaluated the role of uterocervical angle in displacement of intrauterine device and to determine whether it has a discriminative role for displacement.</p><p><strong>Methods: </strong>This cross-sectional case-control study was conducted at an obstetrics and gynecology clinic of a university-affiliated training and research hospital. A total of 108 patients between June 2021 and September 2021 were included. While 36 patients in the case group had intrauterine device displacement, 72 patients in the control group had normal intracavitary intrauterine device detected under transvaginal ultrasound. Demographic characteristics, parameters related to intrauterine device and uterus were recorded. Uterocervical angle was measured in all the patients.</p><p><strong>Results: </strong>There was no statistically significant difference in terms of sociodemographic features, parameters related to uterus size and intrauterine device. The median uterocervical angle was significantly higher in intrauterine device displacement group as compared to controls [159.5 (90-177) vs 146 (118-169) degrees, p < 0.001)]. Uterocervical angle > 156 degree discriminates intrauterine device displacement with 66.67% sensitivity and 80.56% specificity (AUC = 0.763).</p><p><strong>Conclusion: </strong>A larger uterocervical angle may suggest an increased likelihood of intrauterine device displacement. Thus, uterocervical angle seems to have a potential to play a crucial role in the monitoring and management of intrauterine device users even in patients with similar sized uterus.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142680865","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":"When pulmonary arterial hypertension and pregnancy meet: a multidisciplinary clinical experts review.","authors":"Mattia Dominoni, Chiara Melito, Sandra Schirinzi, Stefano Ghio, Laura Scelsi, Alessandra Greco, Annalisa Turco, Federica Broglia, Marinella Fuardo, Maria Paola Delmonte, Francesca Perotti, Barbara Gardella, Arsenio Spinillo","doi":"10.1007/s00404-024-07827-1","DOIUrl":"https://doi.org/10.1007/s00404-024-07827-1","url":null,"abstract":"<p><p>Pulmonary hypertension (PH) is a rare condition characterized by elevated pulmonary arterial pressure and pulmonary vascular resistance, potentially leading to right ventricular failure. Pulmonary arterial hypertension (PAH) is the most common type of PH in women of childbearing age and, as per the modified World Health Organization (mWHO) classification of maternal cardiovascular risk, it falls into mWHO class IV and pregnancy is contraindicated. These patients face an exceptionally high risk of maternal mortality and morbidity, with estimated maternal cardiac event rates ranging from 40 to 100% during pregnancy, because physiological changes happening in pregnancy exacerbate the disorder. Despite these recommendations, there is a growing incidence of pregnancy among women with PAH. Early referral to specialized centers, personalized therapies and expert multidisciplinary care involving pulmonary hypertension specialists, obstetricians, critical care specialists, anesthesiologists, and neonatologists are crucial steps to ensure positive outcomes for both mother and fetus. This review aims to examine the current understanding of pregnancy in patients with PAH, drawing on the experience of our center in the multidisciplinary management of pregnant women with this condition. In particular, we want to focus the attention of clinicians on the following aspects: early referral of pregnant patients to specialized centers, detailed counseling on the implications of pregnancy, initiation of therapy in treatment-naive patients and potential adjustment of therapy in non-naive patients, periodic risk assessment, evaluation of the appropriate timing of delivery, multidisciplinary management of the most critical periods, which are delivery and the post-partum phase.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142680867","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":"Predictive value of urine misfolded protein in preeclampsia in twin pregnancies.","authors":"Qiufeng Liang, Luming Sun","doi":"10.1007/s00404-024-07769-8","DOIUrl":"https://doi.org/10.1007/s00404-024-07769-8","url":null,"abstract":"<p><strong>Objective: </strong>To assess the utility of urinary misfolded proteins (MP) in predicting preeclampsia (PE) in high-risk twin pregnancies.</p><p><strong>Methods: </strong>A prospective study was conducted on 600 high-risk twin pregnancies at Shanghai First Maternity and Infant Hospital from March to August 2021. Clinical data were collected, and urinary MP levels were measured. Subsequently, fetal outcomes were monitored. The patients were categorized into three groups based on the presence of PE: unaffected PE group, early-onset PE (ePE) group (gestational age < 34 weeks), and late-onset PE (lPE) group (gestational age ≥ 34 weeks). The predictive value of MP in PE was evaluated using analysis of variance, Chi-square test, and ROC curve analysis.</p><p><strong>Results: </strong>A total of 464 twin pregnancies were included in the study, among which 66 cases (14.2%) developed PE, including 19 cases of ePE (4.1%) and 47 cases (10.1%) of lPE. Significant differences were found in maternal age, pre-pregnancy body mass index (BMI), BMI ≥ 28 km/m², mean systolic blood pressure, diastolic blood pressure, mean arterial pressure (MAP), MAP ≥ 85 mmHg, history of PE, history of chronic hypertension, and positive urine protein. The maternal and fetal complications of twin pregnancies with PE were higher than those without PE (P < 0.05). When maternal factors (MF), MAP, and MP were used to predict ePE and lPE alone, the area under the ROC curve of MF was the largest, at 0.739 (95% CI 0.619-0.860) and 0.692 (95% CI 0.603-0.782), respectively. The area under the ROC curve of the combination of the three factors was 0.770 (95% CI 0.703-0.837), higher than that of a single index. In addition, MP predicted the positive predictive value (PPV) and negative predictive value (NPV) of PE from 12 to 15⁺⁶ gestational weeks as 57.9% and 89.2%, respectively; from 16 to 27⁺⁶ gestational weeks as 36.2% and 89.9%, respectively; and during the 12-27⁺⁶ gestational weeks as 42.4% and 92.2%, respectively.</p><p><strong>Conclusion: </strong>The detection of MP in the urine of women with twin pregnancies is a non-invasive and convenient method for predicting PE. If the test result is positive, enhanced monitoring and timely transfer to a superior hospital are necessary. If the test result is negative, it indicates a low risk of developing PE, reducing the need for excessive clinical examination and intervention.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142674482","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":"Intrauterine balloon tamponing combined with mid-section loop ligation for postpartum hemorrhage: a retrospective analysis.","authors":"Wei Liu, Yulin Sha, Xiaorong Yang, Xiaorong Yan, Lizhong Yang, Jia Li, Yong Tang, Jian Yu","doi":"10.1007/s00404-024-07824-4","DOIUrl":"https://doi.org/10.1007/s00404-024-07824-4","url":null,"abstract":"<p><strong>Introduction: </strong>Considering the effective treatment of postpartum hemorrhage, intrauterine balloon tamponed can apply pressure from the inside of the uterus, and uterine compression suture can apply pressure from the outside of the uterus. Although combining the two methods can enhance the effectiveness of hemostasis, there is a paucity of studies reporting on outcome. The aim of this study was to report a surgical protocol for postpartum hemorrhage by intrauterine balloon tamponing combined with mid-section loop ligation and its subsequent effects on the uterus.</p><p><strong>Materials and methods: </strong>Medical records was conducted to identify pregnancies complicated by postpartum hemorrhage following cesarean section, which occurred at a single hospital between February 2021 and May 2022. This study involved the comparison and correlation of surgical duration, hemorrhage loss, blood loss, perioperative outcomes, hospital stay, and uterine recovery.</p><p><strong>Results: </strong>A total of 74 pregnancies were analyzed, with 30 cases assigned to the study group, which received intrauterine balloon tamponade combined with mid-section loop ligation, and 44 cases assigned to the control group, which received intrauterine balloon tamponade alone. The loop ligation group demonstrated a significant advantage over the control group in terms of shorter duration of surgery and reduced postoperative bleeding.</p><p><strong>Conclusion: </strong>The addition of mid-section loop ligation enhances the hemostatic efficacy of intrauterine balloon tamponade, resulting in a shorter procedural duration. This combined technique offers a novel approach to managing postpartum hemorrhage.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142675140","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":"Mode of delivery may seriously affect omics studies using umbilical cord blood and amniotic fluid.","authors":"Yun Huang, Lin Zhang, Qian Chen, Jun Zhang","doi":"10.1007/s00404-024-07828-0","DOIUrl":"10.1007/s00404-024-07828-0","url":null,"abstract":"<p><p>There is a general lack of awareness regarding how the mode of delivery can significantly influence the omics composition of biological samples such as umbilical cord blood and amniotic fluid. To address this, we analyzed the impact of delivery mode on proteomic and metabolomic profiles in a cohort of 40 healthy pregnant women without complications, including 16 who had vaginal delivery (VD), 16 who underwent elective cesarean delivery by maternal request (CS), and 8 who had intrapartum cesarean section (Intra_CS). Using label-free liquid chromatography-tandem mass spectrometry (LC-MS/MS) for proteomic and untargeted metabolomic analyses, we compared amniotic fluid and cord blood samples across delivery modes. The amniotic fluid proteomic and metabolomic profiles of CS women exhibited clear separation from those of VD individuals, whereas only the proteomic profiles of the Intra_CS group differed when compared to the CS group. In cord blood, metabolomic profiles differed between CS and VD women, but proteomic profiles showed no separation. These findings highlight the significant impact of delivery mode on omics profiles, particularly amniotic fluid proteomics and metabolomics, and cord blood metabolomics. Larger studies are needed to validate these findings and expand their generalizability to broader populations.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666792","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":"Intraoperative ultrasound for uterine septum resection: a systematic review and meta-analysis.","authors":"Giulia Galati, Michela Buccilli, Gina Bongiorno, Oriana Capri, Daniela Pietrangeli, Ludovico Muzii","doi":"10.1007/s00404-024-07814-6","DOIUrl":"https://doi.org/10.1007/s00404-024-07814-6","url":null,"abstract":"<p><p>Septate uterus is one of the most common uterine malformations. Recent studies suggest that uterine septa may negatively affect fertility. In cases of recurrent pregnancy loss (RPL) or infertility, hysteroscopic metroplasty has been considered the primary treatment for septate uterus. This systematic review and meta-analysis aims to evaluate whether intraoperative ultrasound monitoring may improve the efficacy of hysteroscopic metroplasty compared to other types of intraoperative monitoring or to unguided resections. An electronic database search was performed to identify articles published until June 15, 2023. Five studies (two randomized clinical trials, two prospective studies and one retrospective cohort study) fulfilled the inclusion criteria. The primary outcome was the rate of residual septum > 10 mm after hysteroscopic metroplasty in the ultrasound (US) monitoring group compared to the rate of residual septum using other types of intraoperative monitoring/no monitoring (control group). The secondary outcomes were any residual septa, surgical time, complications, uterine perforations and reproductive outcomes. Intraoperative ultrasound for uterine septum resection significantly reduced the rate of residual septum > 10 mm and the rate of any residual septa compared to the control group. There was no statistically significant difference in the procedure time between women undergoing intraoperative US monitoring versus the control group. A trend toward reduction of surgical complications was observed in the intraoperative US group compared to the control group. In conclusion, intraoperative ultrasound during metroplasty may reduce the rate of the residual septum with no surgical time differences. Further studies are warranted to understand how this may improve reproductive outcomes.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643302","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":"Cell-free pregnancy-associated microRNAs in blood plasma as potential biomarker in early diagnosis of ectopic pregnancy.","authors":"Seyedeh Hajar Sharami, Nasrin Ghanami Gashti, Roya Faraji Darkhaneh, Roya Kabodmehri, Soudabeh Kazemi Aski, Aghil Esmaeili-Bandboni","doi":"10.1007/s00404-024-07821-7","DOIUrl":"https://doi.org/10.1007/s00404-024-07821-7","url":null,"abstract":"<p><strong>Purpose: </strong>Ectopic pregnancy (EP) is one of the life-threatening disorders in early pregnancy and current strategies are inadequate in its clinical management. There is a need to identify more accurate biomarkers for early diagnosis of ectopic pregnancy.</p><p><strong>Methods: </strong>This case-control study was conducted in a group of 35 women diagnosed with ectopic pregnancy and 31 women with a normal singleton pregnancy. Patients' characteristics including the level of β-hCG, age, body mass index (BMI), and gestational age have been recorded. The plasma levels of cell-free hsa-miR-411, hsa-miR-433, and hsa-miR-524 were examined by qRT-PCR using specific primers.</p><p><strong>Results: </strong>There was no statistically significant difference in maternal age, gestational age, and BMI between the two groups. β-hCG concentrations in EP were significantly lower than normal pregnancy group. Cell-free hsa-miR-411 and hsa-miR-433 had statistically significant differences in concentrations in women with EP and normal pregnancy. hsa-miR-411 and hsa-miR-433 had better diagnostic values for discriminating EP from normal pregnancy. Moreover, hsa-miR-411 and hsa-miR-433 showed a specificity of 61% and 53%, and a sensitivity of 72% and 79%, respectively.</p><p><strong>Conclusions: </strong>hsa-miR-411 and hsa-miR-433 microRNAs concentrations in plasma have potential as a predicting biomarker for early diagnosis of EP. However, further research is needed before using miRNAs in clinical practice for both diagnostic and therapeutic goals.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643301","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":"Non-invasive prenatal detection of dominant single-gene disorders in fetal structural abnormalities: a clinical feasibility study.","authors":"Lei Wang, Xiaoli Wu, Jing Mou, Lingyan Ren, Bei Wu, Guangxin Xiang, Jue Wang, Dan Xie, Min Guo, Yaya Geng, Bangquan An, Shengwen Huang","doi":"10.1007/s00404-024-07800-y","DOIUrl":"https://doi.org/10.1007/s00404-024-07800-y","url":null,"abstract":"<p><strong>Objective: </strong>This study evaluated the accuracy of non-invasive prenatal testing (NIPT-SGDs) for dominant monogenic genetic diseases associated with fetal structural abnormalities and to assess the feasibility of clinical application.</p><p><strong>Methods: </strong>Pregnant women requiring prenatal diagnosis due to fetal structural abnormalities were enrolled. Maternal peripheral blood was analyzed for cell-free DNA (cfDNA) using coordinative allele-aware target enrichment sequencing (COATE-seq). This assessed fetal allele depth distribution, fraction and variation ratio. The variation's origin was then determined to obtain fetal variation information. Finally, NIPT-SGDs results were confirmed via invasive prenatal diagnosis (IPD).</p><p><strong>Results: </strong>Upon examination of 113 samples using NIPT-SGDs, COATE-seq successfully analyzed 112 for fetal variation, excluding one due to hemolysis. The study detected six positive cases, yielding a 5.36% detection rate. These disorders included tuberous sclerosis complex (TSC1 and TSC2 being its causative genes), Noonan syndrome (PTPN11), polycystic kidney disease (PKD1), and Kabuki syndrome (KMT2D), occurring twice each, except for Noonan and polycystic kidney disease. Two false positives were due to the mother being a genetic mosaicism. Compared to invasive whole-exome sequencing (WES), NIPT-SGDs did not detect nine positive cases of IPD dominant monogenic diseases, accurately identifying 90.18% (101/112) of the actual positive and negative cases.</p><p><strong>Conclusion: </strong>Our findings demonstrate the clinical utility of NIPT-SGDs using COATE-seq in effectively identifying fetuses with dominant single-gene disorders. Furthermore, this method can be applied to all fetuses.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643303","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}