{"title":"Mosaic trisomy 20 at amniocentesis with a positive conventional cytogenetic result in cultured amniocytes and a negative chromosomal microarray analysis result in uncultured amniocytes in a pregnancy with a favorable fetal outcome","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2024.12.019","DOIUrl":"10.1016/j.tjog.2024.12.019","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 381-382"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nicholas Lolli, Chaur-Dong Hsu, Kristi Poling, Priscilla Cortez, Ravi Goyal, Steven Dudick
{"title":"Diagnostic challenge posed by an intriguing case of simultaneous bilateral ovarian torsion and synchronous endometrial adenocarcinoma","authors":"Nicholas Lolli, Chaur-Dong Hsu, Kristi Poling, Priscilla Cortez, Ravi Goyal, Steven Dudick","doi":"10.1016/j.tjog.2024.09.025","DOIUrl":"10.1016/j.tjog.2024.09.025","url":null,"abstract":"<div><h3>Objective</h3><div>We present an intriguing case of simultaneous, bilateral, complete ovarian torsion with synchronous endometrial adenocarcinoma in a previously healthy patient with a reported history of unilateral oophorectomy. This unique case demonstrates the limitations of pelvic imaging and patient history.</div></div><div><h3>Case report</h3><div>A 32-year-old woman with a history of unilateral oophorectomy, presented to the emergency department with worsening left lower abdominal pain concerning for ovarian torsion. A pelvic ultrasound showed an 8-cm heterogeneous right ovarian cyst with preserved arterial flow. The left ovary appeared absent. The endometrium appeared irregular with scant anechoic intracavitary fluid. She underwent a diagnostic laparoscopy, revealing large bilateral ovarian masses, each with torsion along its infundibulopelvic ligament. Concurrent hysteroscopic sampling demonstrated endometrial adenocarcinoma.</div></div><div><h3>Conclusion</h3><div>This unique case of simultaneous bilateral ovarian torsion with synchronous endometrial adenocarcinoma emphasizes the vigilance required to pursue a diagnosis when a clinical presentation conflicts with reported patient history and imaging findings.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 325-329"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yen-Ting Pan , Chih-Ping Chen , Jian-Pei Huang , Liang-Kai Wang , Fang-Tzu Wu , Schu-Rern Chern , Chen-Chi Lee , Wayseen Wang
{"title":"Concomitant omphalocele, craniorachischisis and ectopic cordis associated with trisomy 18 diagnosed in first trimester","authors":"Yen-Ting Pan , Chih-Ping Chen , Jian-Pei Huang , Liang-Kai Wang , Fang-Tzu Wu , Schu-Rern Chern , Chen-Chi Lee , Wayseen Wang","doi":"10.1016/j.tjog.2023.11.015","DOIUrl":"10.1016/j.tjog.2023.11.015","url":null,"abstract":"<div><h3>Objective</h3><div>We present a rare case of trisomy 18 of maternal origin in a pregnancy with omphalocele, craniorachischisis, and ectopia cordis.</div></div><div><h3>Case report</h3><div>A 38-year-old woman, G3P1A1, was diagnosed with fetal anencephaly, an extrathoracic heart (ectopic cordis), deformity of spine and a stomach-and-intestine-containing omphalocele by prenatal ultrasound at 12 weeks of gestation. The patient's husband was 39 years old and healthy. The patient had no significant past medical history. She was a nonsmoker, with a pre-pregnancy BMI of 23.7 and was not diabetic. There was no family history of malformations, diseases, or teratogenic medication. The patient had not received assisted reproductive technology during this pregnancy. The pregnancy was terminated in the 13th gestational week. Additional anomalies detected after termination of the pregnancy included small and triangular face, abnormal posturing of hands, clubfoot and craniorachischisis. Crown-heel length was 5.5 cm consistent with a 12–13-week gestational age. Postnatal cytogenetic analysis of chorionic villi obtained by placental sampling revealed a karyotype of 47, XX + 18. Polymorphic DNA marker analysis by quantitative fluorescent polymerase chain reaction (QF-PCR) assays showed a maternal origin of the extra chromosome 18.</div></div><div><h3>Conclusion</h3><div>The concomitant omphalocele, ectopia cordis and craniorachischisis may be related to trisomy 18. Genetic analysis of the postmortem tissue and the analysis of the parental origin of the extra chromosome 18 using QF-PCR, provide valuable information for genetic counseling.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 353-356"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Takuro Kobori , Yui Ito , Yoko Urashima , Takuya Ito , Nobumasa Takagaki , Kikuko Hotta , Tokio Obata
{"title":"Ezrin works as a scaffold protein for a macrophage checkpoint molecule CD47, leading to a poor prognosis for patients with uterine cervical squamous cell carcinoma","authors":"Takuro Kobori , Yui Ito , Yoko Urashima , Takuya Ito , Nobumasa Takagaki , Kikuko Hotta , Tokio Obata","doi":"10.1016/j.tjog.2024.12.006","DOIUrl":"10.1016/j.tjog.2024.12.006","url":null,"abstract":"<div><h3>Objectives</h3><div>Despite recent advances in the immunotherapeutic intervention as the second-line treatment of cervical cancer, including Pembrolizumab and Nivolumab, the advanced stages of the disease are still associated with poor prognosis. CD47 is a macrophage checkpoint molecule overexpressed superficially in nearly all cancer types that binds to its receptor on macrophage surface, leading to a disruption of their phagocytic capacities against cancer cells. Ezrin–Radixin–Moesin (ERM) family member of proteins work as scaffold proteins by crosslinking specific transmembrane proteins to actin filaments, contributing to their plasma membrane localization. This study aimed to investigate the relationship between ERM family and CD47 in the uterine cervical squamous cell carcinoma (UCSCC).</div></div><div><h3>Materials and methods</h3><div>The mRNA expression, intracellular localization, and molecular interaction of CD47 and ERM in BOKU cells derived from human UCSCC were determined using RT-PCR, immunofluorescence, and co-immunoprecipitation, respectively. CD47 plasma membrane expression was measured by flow cytometry three days after transfection with small interfering RNAs against each ERM. CD47 and ERM expression in tumor tissues from patients with uterine cervical cancer was analyzed using a clinical RNA sequencing database.</div></div><div><h3>Results</h3><div>Confocal laser scanning microscopy analysis showed the co-localization of CD47 with all three ERM in the plasma membrane of BOKU cells. RNA interference-mediated knockdown of ezrin but not others reduced the plasma membrane expression of CD47. Furthermore, immunoprecipitation assay demonstrated the molecular interaction of CD47 with ezrin. Notably, bioinformatic analysis indicated that CD47 and ezrin expressions were markedly increased and positively correlated in the clinical uterine cervical tumor tissues and that higher expressions of ezrin correlates with a poor prognosis for the uterine cervical cancers.</div></div><div><h3>Conclusion</h3><div>This study illustrates that in uterine cervical cancers, ezrin may be a dominant scaffold protein responsible for CD47 expression and, therefore, is a potential target for developing a novel macrophage checkpoint blockade therapy.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 239-247"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Successful management of a pregnancy women with sudden onset of acute pancreatitis: A case report and literature review","authors":"Yi-Er Huang , Chih-Yi Yang","doi":"10.1016/j.tjog.2025.01.003","DOIUrl":"10.1016/j.tjog.2025.01.003","url":null,"abstract":"<div><h3>Objective</h3><div>Hypertriglyceridemia (HTG) is a rare cause of acute pancreatitis (AP) in pregnancies and has emerged as an aggravating factor of severe pancreatitis. To enhance the diagnosis and management of HTG-induced AP during pregnancy by improving early recognition, optimizing treatment strategies, and minimizing maternal and fetal complications.</div></div><div><h3>Case Report</h3><div>This is a 29-year-old multigravida woman at a gestational age of 34 weeks and 2 days who presented with sudden abdominal pain and vomiting. She had severe hypertriglyceridemia (7855 mg/dL) and was diagnosed with acute pancreatitis. After an emergency cesarean section, the patient received aggressive hydration, as well as fenofibrate and gemfibrozil as lipid-lowering agents, along with other supportive care. This treatment led to a successful recovery.</div></div><div><h3>Conclusion</h3><div>The management of HTG-induced AP must consider both maternal and fetal health, with options such as lipid-lowering agents and plasmapheresis being explored, further research was required to ascertain their safety during pregnancy.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 368-371"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Exploring a conundrum: Evaluating the role of neoadjuvant chemotherapy preceding chemo-radiotherapy in locally advanced cervical cancer: A review article","authors":"Sweta Soni , Deep Shankar Pruthi","doi":"10.1016/j.tjog.2024.10.013","DOIUrl":"10.1016/j.tjog.2024.10.013","url":null,"abstract":"<div><div>In India, majority of women's with cervical cancer have locally advanced disease. The chemo-radiotherapy (CRT) followed by brachytherapy is the standard treatment for patients with locally advanced cervical cancer (LACC) disease for almost decades. But in developing countries like India with higher incidence and limited radiotherapy facilities, this may result in a delay in treatment initiation. These factors may further contribute to detrimental outcomes. Several researchers have tried to study role of neo-adjuvant chemotherapy (NACT) in LACC with the aim that neo-adjuvant chemotherapy may arrest the disease progression, prevent distant metastasis and therefore improve overall and disease-free survival. However, there is only limited literature so far, comparing NACT followed by CRT with the standard treatment arm alone. Therefore the review article aims to evaluate role of neo-adjuvant chemotherapy (NACT) followed by chemo-radiotherapy in LACC.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 219-229"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 22q11.2 deletion syndrome in a pregnancy conceived by in vitro fertilization and embryo transfer","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2024.12.023","DOIUrl":"10.1016/j.tjog.2024.12.023","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 389-390"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ming-Ju Wang , Ming-Huei Lin , Jia-Hwa Yang , Robert Kuo-Kuang Lee , Kuan-Sheng Lee
{"title":"Low antimüllerian hormone (<1.2 ng/ml) does not impact oocyte quality and IVF/ICSI outcomes in women ≤40 years old","authors":"Ming-Ju Wang , Ming-Huei Lin , Jia-Hwa Yang , Robert Kuo-Kuang Lee , Kuan-Sheng Lee","doi":"10.1016/j.tjog.2024.02.007","DOIUrl":"10.1016/j.tjog.2024.02.007","url":null,"abstract":"<div><h3>Objective</h3><div>This study retrospectively investigates whether diminished ovarian reserve (DOR), as measured by serum anti-müllerian hormone (AMH), impacts oocyte quality and IVF/ICSI outcomes in the cleavage embryo or blastocyst stage or not.</div></div><div><h3>Materials and methods</h3><div>We retrospectively reviewed 1677 women aged ≤40 years who underwent 1862 IVF/ICSI cycles and divided patients into two groups: low-AMH included the patients with AMH levels <1.2 ng/ml, and normal-AMH included the patients with AMH values ≥1.2 ng/ml. Ovarian stimulation response till fertilization condition and fresh transfer outcomes were compared between the two groups.</div></div><div><h3>Results</h3><div>The cancellation rate was significantly higher in the low-AMH group than in the normal-AMH group (12.6 % vs 2.2 %, <em>p</em> < 0.001). The MII oocyte retrieval and available embryos were significantly higher in the normal-AMH group than in the low-AMH group. There were no significant differences in the implantation rates (IR), miscarriage rate (MR) and live birth rate (LBR) in cleavage embryo transfer (IR:20.90 % vs 21.59 %, <em>p</em> = 0.787; MR:18.8 % vs 22.3 %, <em>p</em> = 0.543; LBR:29.3 % vs 30.9 %, <em>p</em> = 0.686) and blastocyst transfer (IR:43.92 % vs 44.09 %, <em>p</em> = 0.819; MR:6.7 % vs 15.8 %, <em>p</em> = 0.486; LBR:48.1 % vs 45.1 %, <em>p</em> = 0.758) between the two groups.</div></div><div><h3>Conclusions</h3><div>Ovarian reserve, measured by circulating AMH, correlates with cycle cancellation rate and predicts the recovery of oocyte numbers and available embryos after conventional ovarian hyperstimulation but not oocyte quality or IVF/ICSI outcomes in women ≤40 years old.</div></div><div><h3>Trial registration</h3><div>The study protocol was retrospectively registered and was approved by Institutional Review Board of Mackay Memorial Hospital (21MMHIS219e) on August 26, 2021.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 248-252"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Chih-Ping Chen , Liang-Kai Wang , Fang-Tzu Wu , Yen-Ting Pan , Peih-Shan Wu , Wayseen Wang
{"title":"Prenatal diagnosis of a de novo 17q25.3 microdeletion encompassing RAC3 and CSNK1D in a fetus associated with partial agenesis of the corpus callosum, small brain volume, micrognathia and total anomalous pulmonary venous return","authors":"Chih-Ping Chen , Liang-Kai Wang , Fang-Tzu Wu , Yen-Ting Pan , Peih-Shan Wu , Wayseen Wang","doi":"10.1016/j.tjog.2024.12.013","DOIUrl":"10.1016/j.tjog.2024.12.013","url":null,"abstract":"<div><h3>Objective</h3><div>We present prenatal diagnosis of a <em>de novo</em> 17q25.3 microdeletion in a fetus with abnormalities of the brain, heart and face.</div></div><div><h3>Case report</h3><div>A 32-year-old, gravida 2, para 1, woman underwent amniocentesis at 25 weeks of gestation because of fetal abnormalities of partial agenesis of the corpus callosum with absence of the splenium, small brain volume, colpocephaly and micrognathia on fetal magnetic resonance imaging (MRI) and total anomalous pulmonary venous return (TAPVR) and partial agenesis of the corpus callosum on fetal ultrasound at 23 weeks of gestation. Amniocentesis revealed a karyotype of 46,XY, and simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes showed arr [GRCh37 (hg19)] 17q25.3 (79,838,999–80,426,634) × 1.0 with a 587.64-kb 17q25.3 microdeletion encompassing 23 OMIM genes including <em>RAC3</em> and <em>CSNK1D</em>. The parental bloods did not have such a microdeletion. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism of abnormal head shape, low-set ears, micrognathia, depressed nasal bridge and hypertelorism. aCGH analysis on the cord DNA confirmed the prenatal diagnosis of a 17q25.3 microdeletion.</div></div><div><h3>Conclusion</h3><div>A 17q25.3 microdeletion encompassing <em>RAC3</em> and <em>CSNK1D</em> may present abnormalities of the brain, heart and face on fetal imaging.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 345-347"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Diagnosis and treatment of a serous cystadenofibroma-like tumor potentially arising from urinary tract endometriosis: A case report","authors":"Yu Horibe, Ruriko Takase, Toshiyuki Kanno, Akira Nakabayashi, Jun Kumakiri, Tsutomu Tabata","doi":"10.1016/j.tjog.2024.12.014","DOIUrl":"10.1016/j.tjog.2024.12.014","url":null,"abstract":"<div><h3>Objective</h3><div>Urinary tract endometriosis affects 0.3–12 % of all cases of endometriosis. Medications have limited efficacy in treating advanced disease. Serous cystadenofibroma is a rare benign variant of ovarian epithelial tumors comprising both epithelial and fibrous stromal components. Its diagnosis is challenging due to its visual resemblance to malignancy.</div></div><div><h3>Case report</h3><div>A patient diagnosed with ureteral endometriosis underwent surgical excision of the right kidney and ureter. Ten years later, the patient developed a tumor suspected to be malignant at the same site. Following exploratory laparotomy, the tumor was pathologically diagnosed as resembling serous cystadenofibroma.</div></div><div><h3>Conclusion</h3><div>Differentiating a such tumors from other malignancies based solely on imaging findings is challenging. It is crucial to judge the degree of surgical intervention through intraoperative macroscopic examination and rapid pathological assessment. The efficacy of gonadotropin-releasing hormone analog (GnRHa) and dienogest (DNG) therapy in preventing the recurrence of such tumors following surgery for endometriosis remains uncertain.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 357-360"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549069","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}