Taiwanese Journal of Obstetrics & Gynecology最新文献

{"title":"Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome in a pregnancy with low-level mosaic trisomy 21 at amniocentesis","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2025.05.005","DOIUrl":"10.1016/j.tjog.2025.05.005","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 4","pages":"Pages 723-725"},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidental detection of a familial 361-kb 9q34.3 microduplication encompassing EHMT1 and CACNA1B without apparently phenotypic abnormality","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2025.05.006","DOIUrl":"10.1016/j.tjog.2025.05.006","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 4","pages":"Pages 726-728"},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular subtyping and the 2023 FIGO staging in endometrial cancer: Redefining adjuvant therapy","authors":"Hao Lin ,&nbsp;Yu-Che Ou ,&nbsp;Hung-Chun Fu ,&nbsp;Szu-Wei Huang ,&nbsp;Chen-Hsuan Wu ,&nbsp;Chan-Chao Changchien","doi":"10.1016/j.tjog.2025.04.007","DOIUrl":"10.1016/j.tjog.2025.04.007","url":null,"abstract":"<div><div>The 2023 update to the FIGO staging system for endometrial cancer has introduced important changes, particularly in classifying early disease, which now more effectively aligns with histological types and molecular profiles to guide treatment strategies. In recent years, molecular classification, including the identification of <em>POLE</em> mutations, mismatch repair deficiency (dMMR), and p53 abnormalities, has become essential in tailoring adjuvant therapies for patients with endometrial cancer. Women with new FIGO stage I non<em>-TP53</em>-mutated tumors, and stage I/II <em>POLE</em>-mutated tumors generally have excellent outcomes, and adjuvant therapy is typically not recommended. In contrast to the established adjuvant treatment of stage IIB disease, controversy surrounds the treatment of stage IIA and IIC patients without <em>POLE</em> mutations. Real-world data suggest that adjuvant radiotherapy or chemotherapy may offer no significant benefit compared to observation in these cases. For stage III <em>POLE</em>-mutated tumors, studies have demonstrated favorable prognoses and high salvage rates upon recurrence, raising important questions about the necessity of adjuvant treatment when complete surgical resection is achieved. For stage III/IV dMMR patients, immune checkpoint inhibitors have demonstrated substantial improvements in both progression-free survival and overall survival when added to chemotherapy, as shown in the RUBY, NRG-GY018, AtTEnd, and ENGOT-en11/GOG-3053/KEYNOTE-B21 trials. These findings have solidified the use of immunotherapy in this molecular subgroup. In the non-specific molecular profile group, hormone receptor status has emerged as a significant prognostic marker. Estrogen receptor-positive tumors in this subgroup have shown favorable responses to progestin therapy, raising the possibility that hormonal therapy could replace chemotherapy in selected patients. Lastly, patients with <em>TP53</em>-mutated tumors, which are associated with poor prognosis, are being evaluated in the RAINBO p53abn-RED trial to assess whether the addition of olaparib to adjuvant chemoradiation can improve outcomes in this high-risk group. In conclusion, integrating molecular subtyping with the 2023 FIGO staging system is reshaping the approach to adjuvant therapy in endometrial cancer, enabling more precise and individualized treatment strategies that improve patient outcomes.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 4","pages":"Pages 616-624"},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal diagnosis and genetic counselling of monozygotic triplets with paternally inherited chromosome 15q11.2 microdeletion in a Chinese family","authors":"Bo Liu ,&nbsp;Yunju Wang ,&nbsp;Shinuan Fei ,&nbsp;Hong Jiang ,&nbsp;Sheng Li","doi":"10.1016/j.tjog.2025.01.009","DOIUrl":"10.1016/j.tjog.2025.01.009","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 4","pages":"Pages 758-760"},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic contribution of conventional and molecular karyotyping in congenital diaphragmatic hernia related copy number variations","authors":"G. Somayyeh Heidargholizadeh ,&nbsp;Cagri Gulec ,&nbsp;Gulnihal Bulut ,&nbsp;Ibrahim Halil Kalelioglu ,&nbsp;Recep Has ,&nbsp;Tugba Sarac Sivrikoz ,&nbsp;Tugba Kalayci ,&nbsp;Bilge Ozsait Selcuk ,&nbsp;Birsen Karaman","doi":"10.1016/j.tjog.2025.03.015","DOIUrl":"10.1016/j.tjog.2025.03.015","url":null,"abstract":"<div><h3>Objective</h3><div>Congenital Diaphragmatic Hernia (CDH) results from defects in the developing diaphragm and is characterized by herniation of abdominal contents into the thoracic cavity. Notably, CDH is linked to elevated morbidity and mortality rates due to its association with pulmonary hypoplasia. Copy number variations (CNVs) are significant contributors to the etiology of CDH. We aimed to investigate the involvement of new candidate CNVs in CDH etiology and the effectiveness of karyotyping and array-based Comparative Genomic Hybridization (a-CGH) in CDH diagnosis.</div></div><div><h3>Materials and Methods</h3><div>Among the 10,536 prenatal cases, 198 cases with CDH were enrolled in this study. Statistical analyses were performed to investigate the possible correlation between CDH type, maternal age, and chromosomal anomaly ratio. Chromosomal analysis was conducted on 188 cases with appropriate material. Consequently, an a-CGH study was executed on 90 cases with normal karyotype results and high-quality DNA material.</div></div><div><h3>Results</h3><div>Chromosomal anomaly frequency was significantly higher (p = 0.0001) in complex than in isolated CDH. In 13.3 % of the cases, various chromosomal anomalies including triploidy, aneuploidy, and those indicating certain syndromes such as Pallister-Killian, Cat-Eye, Turner, and Klinefelter were detected with karyotyping. In nine cases, three pathogenic CNVs including 17q12 microdeletion, 15q11.2 microdeletion, Xq27.1 microduplication, and seven additional CNVs with unknown significance, were identified with the a-CGH study.</div></div><div><h3>Conclusion</h3><div>Our study results significantly support the involvement of chromosomal anomalies and CNVs in CDH etiology. Moreover, our findings revealed new candidate regions for CDH and strengthened the CDH correlation of known CNVs, which may provide a resource for future studies.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 4","pages":"Pages 678-686"},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal diagnosis of a familial 22q11.21 microduplication and mosaic trisomy 20 in a pregnancy with an asymptomatic father carrier and a favorable fetal outcome","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2025.05.010","DOIUrl":"10.1016/j.tjog.2025.05.010","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 4","pages":"Pages 738-740"},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Low-level mosaic trisomy 12 at amniocentesis in a pregnancy associated with complete cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2025.05.004","DOIUrl":"10.1016/j.tjog.2025.05.004","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 4","pages":"Pages 721-722"},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Routine transvaginal ultrasound preceding mid-pregnancy fetal anatomical screening is a feasible and valuable tool in screening for vasa previa","authors":"Pei-Chen Wu ,&nbsp;Ching-Chi Hsia ,&nbsp;Ksenia Olisova ,&nbsp;Chang-Ching Yeh ,&nbsp;Tung-Yao Chang","doi":"10.1016/j.tjog.2024.12.032","DOIUrl":"10.1016/j.tjog.2024.12.032","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 4","pages":"Pages 752-754"},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal diagnosis and genetic counseling of a de novo 18q21.2 microdeletion associated with normal phenotype","authors":"Yuexiang Feng ,&nbsp;Ruijie Chang ,&nbsp;Tianzi Wu ,&nbsp;Wenjuan Tang","doi":"10.1016/j.tjog.2024.12.033","DOIUrl":"10.1016/j.tjog.2024.12.033","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 4","pages":"Pages 755-757"},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal diagnosis of a familial Xq27.1-q28 deletion with an asymptomatic mother carrier and no abnormality in the female fetus","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2025.05.007","DOIUrl":"10.1016/j.tjog.2025.05.007","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 4","pages":"Pages 729-732"},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}