{"title":"Prenatal diagnosis of partial duplication chromosome 21q11.2–21q21.1: A case report and literature review","authors":"Ayuko Tanaka, Daisuke Higeta, Kanako Toyoda, Akihito Morita, Tatsuya Sato, Akira Iwase","doi":"10.1016/j.tjog.2024.10.027","DOIUrl":"10.1016/j.tjog.2024.10.027","url":null,"abstract":"<div><h3>Objective</h3><div>We report the prenatal diagnosis for a small supernumerary marker chromosome derived from chromosome 21q11.2-q21.1.</div></div><div><h3>Case report</h3><div>A 40-year-old woman presenting at 13 weeks of gestation underwent noninvasive prenatal testing (NIPT) due to advanced maternal age. A positive finding for trisomy 21 urged genetic counseling and subsequent amniocentesis. Amniocentesis revealed a karyotype of 47, XX,+mar. The parental karyotypes were normal, and prenatal ultrasound findings were unremarkable. At a follow-up genetic counseling session, additional prenatal genetic testing was undertaken, specifically, amniocentesis including microarray-based comparative genomic hybridization (aCGH). The aCGH analysis of cultured amniocytes revealed a 1.4 MB duplication of the 21q11.2-q21.1 segment, which is not associated with Down syndrome, and the couple decided to continue her pregnancy. The infant was born without the symptoms of Down syndrome and remains to be so till six months.</div></div><div><h3>Conclusion</h3><div>We thus present a clinically and genetically unique case of discordant NIPT and aCGH results.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 5","pages":"Pages 847-850"},"PeriodicalIF":2.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027634","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":"Effect of Platelet-Rich Plasma (PRP) on the sperm parameters: Comment","authors":"Hinpetch Daungsupawong, Viroj Wiwanitkit","doi":"10.1016/j.tjog.2025.06.002","DOIUrl":"10.1016/j.tjog.2025.06.002","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 5","pages":"Page 927"},"PeriodicalIF":2.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027677","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":"Response to Dr. Hinpetch Daungsupawong's comments on “Evaluation of the effect of Platelet-Rich Plasma (PRP) on the sperm parameters”","authors":"Sedighe Hosseini, Leila Majdi","doi":"10.1016/j.tjog.2025.06.001","DOIUrl":"10.1016/j.tjog.2025.06.001","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 5","pages":"Page 926"},"PeriodicalIF":2.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145026414","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":"High-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with uniparental disomy of chromosome 21, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2025.07.011","DOIUrl":"10.1016/j.tjog.2025.07.011","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 5","pages":"Pages 908-913"},"PeriodicalIF":2.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027075","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}
Hsiu-Neng Chang , Chi-Hong Ho , Chen-Yu Huang , Peng-Hui Wang , Chia-Yu Tseng , Chen-Yin Tung
{"title":"Health promotion lifestyle and its influencing factors for women undergoing infertility treatment","authors":"Hsiu-Neng Chang , Chi-Hong Ho , Chen-Yu Huang , Peng-Hui Wang , Chia-Yu Tseng , Chen-Yin Tung","doi":"10.1016/j.tjog.2025.04.014","DOIUrl":"10.1016/j.tjog.2025.04.014","url":null,"abstract":"<div><h3>Objective</h3><div>To explore the health promotion lifestyle and its influencing factors in women undergoing infertility treatment.</div></div><div><h3>Materials and methods</h3><div>This study employed a cross-sectional survey to collect data from women undergoing infertility treatment at the obstetrics and gynecology outpatient clinic of a medical center in northern Taiwan. Data were collected from December 18, 2021, to March 13, 2023, including basic demographic information and the Health Promotion Lifestyle Profile (HPLP). A total of 103 participants were included in the study.</div></div><div><h3>Results</h3><div>The average score on the HPLP for participants was 65.28 (out of a total of 120). Among the six subscales, social support received the highest score, while exercise behavior received the lowest score. Factors significantly associated with the score included exercise habits, infertility-related stress, and occupation (F = 7.904, p < 0.001). Women who became pregnant after treatment exhibited better nutritional behaviors compared to those who did not conceive (2.08 ± 0.55 vs. 1.80 ± 0.58, p = 0.038). Women who did not become pregnant reported higher economic stress related to infertility treatment (t = 2.169, p < 0.05). Women who started treatment an average of 37 months after marriage experienced higher infertility treatment stress compared to those who sought treatment within 12 months of marriage (F = 3.342, p < 0.05).</div></div><div><h3>Conclusions</h3><div>A health-promoting lifestyle should be included in the routine care guidelines for infertility treatment to enhance the chances of conception, particularly focusing on improving nutrition and increasing exercise.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 5","pages":"Pages 809-815"},"PeriodicalIF":2.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027629","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":"A potential mechanism for development of uterine artery pseudoaneurysm after delivery: An in-depth analysis of four cases","authors":"Shuhei Ikeda , Yusuke Kurokawa , Megumi Muto , Masamichi Koganemaru , Asako Kuhara , Tomoko Kugiyama , Toshiyuki Yoshizato , Naotake Tsuda","doi":"10.1016/j.tjog.2024.09.026","DOIUrl":"10.1016/j.tjog.2024.09.026","url":null,"abstract":"<div><div>We present four distinct cases of uterine artery pseudoaneurysm (UAP) with secondary postpartum hemorrhage, in which their unique characteristics including the implicated arteries and their localization were delineated using contrast-enhanced computed tomography and uterine artery angiography. Three cases had a history of intrauterine manipulation procedures, which included <em>in vitro</em> fertilization/embryo transfer and surgical abortion. The UAPs emerged consistently at the placental attachment site. Notably, for the two cases with cesarean sections, the UAPs were formed in locations unrelated to myometrial incisions. These pseudoaneurysms manifested with radial or arcuate arteries. Three cases with extravasation exhibited hypofibrinogenemia and elevated D-dimer. These findings suggest that the intricate processes of placental attachment and detachment during pregnancy and delivery, possibly when combined with recognized predisposing factors including traumatic incidents prior to and/or during gestation and/or after parturition, may be associated with development of UAP. Consumptive coagulopathy may be a contributing factor for UAP extravasation.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 5","pages":"Pages 837-841"},"PeriodicalIF":2.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027633","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}
Huang-Pin Shen , Ming-Yung Lee , Wan-Ru Chao , Gwo-Tarng Sheu , Yi-Ju Lee , Chih-Ping Han
{"title":"HER2 mutation profiling in mucinous ovarian carcinoma: Inferences for Enhertu (trastuzumab deruxtecan) as a potential therapeutic approach","authors":"Huang-Pin Shen , Ming-Yung Lee , Wan-Ru Chao , Gwo-Tarng Sheu , Yi-Ju Lee , Chih-Ping Han","doi":"10.1016/j.tjog.2025.04.013","DOIUrl":"10.1016/j.tjog.2025.04.013","url":null,"abstract":"<div><h3>Objective</h3><div>This study aimed to characterize <em>HER2</em> mutations in Taiwanese mucinous ovarian carcinoma (mOC) and evaluate the potential of Enhertu (T-DXd) as a targeted therapy for HER2-mutant mOC.</div></div><div><h3>Materials and methods</h3><div>We previously reported a 33.3 % (<em>n</em> = 7/21) HER2 tyrosine kinase domain (TKD) missense mutation rate in mOC using hot-spot PCR and Sanger sequencing. In this study, <em>HER2</em> mutations were assessed in 18 additional mOC samples using targeted next-generation sequencing (NGS). Data from earlier PCR (<em>n</em> = 21) and current NGS (<em>n</em> = 18) were combined, resulting in all 39 cases. The COSMIC database and PolyPhen-2 (Polymorphism Phenotyping v2) algorithm were used to evaluate the pathogenicity of HER2 mutations identified in the NGS cohort.</div></div><div><h3>Results</h3><div><em>HER2</em> mutations were detected in 43.6 % (<em>n</em> = 17/39) of cases. The PCR cohort (<em>n</em> = 21) from the previous 2 studies using PCR and Sanger sequencing identified seven TKD mutations. On the other hand, the NGS cohort (<em>n</em> = 18) from the present study using targeted NGS detected ten non-TKD mutations, with p.P1170A being the most frequent. PolyPhen-2 pathogenicity predictions indicated that p.P1170A and p.R143Q were likely pathogenic. Combining PCR and NGS data enhanced statistical power; however, the study was limited by the insufficient residual specimens from the PCR cohort for NGS reanalysis.</div></div><div><h3>Conclusion</h3><div>Our findings reveal a high prevalence of <em>HER2</em> mutations in mOC, with distinct profiles in TKD and non-TKD regions. These results support further investigation of Enhertu (T-DXd) as a promising targeted therapy for HER2-mutant mOC. Larger, multi-center studies are needed to validate these findings and explore clinical applications.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 5","pages":"Pages 802-808"},"PeriodicalIF":2.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027685","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}
Ming Chen , Zhu Wei Lim , Li Min-Yen Pan , Tien-Yu Yao , Wan-Ju Wu
{"title":"Mini-laparotomy to avoid vascular injury during fetoscopic laser ablation in a case of twin–twin transfusion syndrome with anterior wall placenta: Report of a case complicated with renal dysplasia and cord-around-trunk in donor cotwin and review of the literature","authors":"Ming Chen , Zhu Wei Lim , Li Min-Yen Pan , Tien-Yu Yao , Wan-Ju Wu","doi":"10.1016/j.tjog.2024.10.028","DOIUrl":"10.1016/j.tjog.2024.10.028","url":null,"abstract":"<div><h3>Objective</h3><div>Twin–twin transfusion syndrome (TTTS) is a special complication of monochorionic (MC) twins, with unbalanced flows through vascular anastomoses within the placenta, causing hemodynamic derangement that can adversely affect perinatal outcome. The initial clinical manifestations of TTTS may be hypovolemic and oliguric of the donor cotwin (the \"struck\" twin), and hypervolemia and polyureic of the recipient cotwin under prenatal ultrasound. However, the mortality rate can reach 90 % if left untreated. Fetoscopic laser ablation (FLA) is considered the golden treatment standard of TTTS. However, FLA is technically challenging in cases with anterior wall placenta.</div></div><div><h3>Case report</h3><div>A primigravida woman was diagnosed with TTTS stage III at 17 weeks of gestation. A detailed preoperative plan and a modified mini-laparotomy approach were used to avoid vascular injury during fetoscopic laser coagulation (FLA) in a case of MC twins pregnancy complicated by the TTTS with anterior wall placenta. There were no complications during and after the FLA procedure. During follow-up, the \"stuck\" twin showed poor fetal growth with the suspicion of bilateral renal dysplasia and cord-around-trunk. The case delivered at 26<sup>+2</sup> weeks of gestation due to maternal mirror syndrome, while donor cotwin was confirmed to have congenital renal dysplasia postnatally, which could increase the severity of TTTS when staging. The donor cotwin died after 18 days in our neonatal intensive care unit. While the recipient cotwin was discharged smoothly after 120 days of hospitalization with normal development. Our findings also highlighted a rare condition coexistence with TTTS in monochorionic diamniotic twin pregnancy, leading to a poorer prognosis.</div></div><div><h3>Conclusion</h3><div>Timely interventions with a detailed preoperative plan and termination of pregnancy according to the clinical symptoms of both the patient and the fetuses may prevent dismal outcome.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 5","pages":"Pages 874-877"},"PeriodicalIF":2.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027069","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 21 at amniocentesis in a pregnancy associated with perinatal decrease of the trisomy 21 cell line, a favorable fetal outcome and a false negative second-trimester non-invasive prenatal testing result for down syndrome","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2025.07.012","DOIUrl":"10.1016/j.tjog.2025.07.012","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 5","pages":"Pages 914-916"},"PeriodicalIF":2.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027076","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}