This study aimed to evaluate the safety and efficacy of vacuum-induced intrauterine balloon tamponade (vIBT) using the modified Bakri system in a clinical setting.
Materials and methods
This single-center observational study included women who had undergone vIBT for primary postpartum hemorrhage (PPH). Vacuum induction at 60 kPa in the uterus was continued for 1 h with 50–100 ml saline, and the balloon was promptly removed after the protocol was completed. PPH was defined as an estimated blood loss of 1000 ml or more at delivery and sustained bleeding of ≥100 ml/h after delivery. The primary and secondary endpoints were the safety and efficacy of vIBT.
Results
The criteria for PPH were met in 28 out of 601 (4.3 %) patients, 20 of whom underwent vIBT. No adverse events directly related to vIBT, such as uterine perforation, anaphylaxis, or endometritis, were observed. No patients were unable to undergo vIBT due to intrauterine balloon expulsion. It was successful in 19 out of 20 (95 %) patients. Blood transfusion was required in 6 out of 20 (30 %) patients.
Conclusion
VIBT was safe and easy to perform in most patients with PPH, achieving effective bleeding control.
{"title":"Safety and efficacy of the initial application of vacuum-induced intrauterine tamponade for the management of postpartum hemorrhage","authors":"Ryuichi Shimaoka, Yuichiro Takahashi, Hitomi Ono, Saki Inuzuka, Masako Matsui, Kazuhiko Asai, Shigenori Iwagaki","doi":"10.1016/j.tjog.2024.08.005","DOIUrl":"10.1016/j.tjog.2024.08.005","url":null,"abstract":"<div><h3>Objective</h3><div>This study aimed to evaluate the safety and efficacy of vacuum-induced intrauterine balloon tamponade (vIBT) using the modified Bakri system in a clinical setting.</div></div><div><h3>Materials and methods</h3><div>This single-center observational study included women who had undergone vIBT for primary postpartum hemorrhage (PPH). Vacuum induction at 60 kPa in the uterus was continued for 1 h with 50–100 ml saline, and the balloon was promptly removed after the protocol was completed. PPH was defined as an estimated blood loss of 1000 ml or more at delivery and sustained bleeding of ≥100 ml/h after delivery. The primary and secondary endpoints were the safety and efficacy of vIBT.</div></div><div><h3>Results</h3><div>The criteria for PPH were met in 28 out of 601 (4.3 %) patients, 20 of whom underwent vIBT. No adverse events directly related to vIBT, such as uterine perforation, anaphylaxis, or endometritis, were observed. No patients were unable to undergo vIBT due to intrauterine balloon expulsion. It was successful in 19 out of 20 (95 %) patients. Blood transfusion was required in 6 out of 20 (30 %) patients.</div></div><div><h3>Conclusion</h3><div>VIBT was safe and easy to perform in most patients with PPH, achieving effective bleeding control.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 1","pages":"Pages 46-52"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967712","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}
Pub Date : 2025-01-01DOI: 10.1016/j.tjog.2024.10.001
Yen-Chen Wu , Emily Chia-Yu Su , Jung-Hsiu Hou , Ching-Jung Lin , Krystal Baysan Lin , Chi-Huang Chen
The objective of this review is to evaluate the contributions of Artificial Intelligence (AI) to Assisted Reproductive Technologies (ART), focusing on its role in enhancing the processes and outcomes of fertility treatments. This study analyzed 48 relevant articles to assess the impact of AI on various aspects of ART, including treatment efficacy, process optimization, and outcome prediction. The effectiveness of different machine learning paradigms—supervised, unsupervised, and reinforcement learning—in improving ART-related procedures was particularly examined. The findings indicate that AI technologies significantly enhance ART processes by refining tasks such as embryo and sperm analysis and facilitating personalized treatment plans based on predictive modeling. Notable improvements were observed in the accuracy of diagnosing and predicting successful outcomes in fertility treatments. AI-driven models provided more precise forecasts of the optimal timing for clinical interventions such as egg retrieval and embryo transfer, which are critical to the success of ART cycles. The integration of AI into ART represents a transformative advancement, substantially improving the precision and efficiency of fertility treatments. The continuous evolution of AI methodologies is likely to further revolutionize this field, enabling more tailored and successful treatment approaches. AI is becoming an indispensable tool in reproductive medicine, enhancing both the effectiveness of treatments and the clinical decision-making process. This review underscores the potential of AI to act as a catalyst for innovative solutions in the optimization of ART.
{"title":"Artificial intelligence and assisted reproductive technology: A comprehensive systematic review","authors":"Yen-Chen Wu , Emily Chia-Yu Su , Jung-Hsiu Hou , Ching-Jung Lin , Krystal Baysan Lin , Chi-Huang Chen","doi":"10.1016/j.tjog.2024.10.001","DOIUrl":"10.1016/j.tjog.2024.10.001","url":null,"abstract":"<div><div>The objective of this review is to evaluate the contributions of Artificial Intelligence (AI) to Assisted Reproductive Technologies (ART), focusing on its role in enhancing the processes and outcomes of fertility treatments. This study analyzed 48 relevant articles to assess the impact of AI on various aspects of ART, including treatment efficacy, process optimization, and outcome prediction. The effectiveness of different machine learning paradigms—supervised, unsupervised, and reinforcement learning—in improving ART-related procedures was particularly examined. The findings indicate that AI technologies significantly enhance ART processes by refining tasks such as embryo and sperm analysis and facilitating personalized treatment plans based on predictive modeling. Notable improvements were observed in the accuracy of diagnosing and predicting successful outcomes in fertility treatments. AI-driven models provided more precise forecasts of the optimal timing for clinical interventions such as egg retrieval and embryo transfer, which are critical to the success of ART cycles. The integration of AI into ART represents a transformative advancement, substantially improving the precision and efficiency of fertility treatments. The continuous evolution of AI methodologies is likely to further revolutionize this field, enabling more tailored and successful treatment approaches. AI is becoming an indispensable tool in reproductive medicine, enhancing both the effectiveness of treatments and the clinical decision-making process. This review underscores the potential of AI to act as a catalyst for innovative solutions in the optimization of ART.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 1","pages":"Pages 11-26"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967612","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}
Pub Date : 2025-01-01DOI: 10.1016/j.tjog.2024.10.011
Min Xie , Yan-Dong Yang , Dong-Zhi Li
{"title":"Early-onset fetal overgrowth: Prenatal phenotype of PIK3CA-related condition caused by a de novo constitutional variant","authors":"Min Xie , Yan-Dong Yang , Dong-Zhi Li","doi":"10.1016/j.tjog.2024.10.011","DOIUrl":"10.1016/j.tjog.2024.10.011","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 1","pages":"Pages 189-190"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967632","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}
Pub Date : 2025-01-01DOI: 10.1016/j.tjog.2024.09.020
Hua-Hsi Wu , Hung-Tse Chou , Shih-Yao Lin , Chiung-Ru Lai , Yi-Jen Chen
Objective
Approximately 10–15 % of endometrial cancer patients with tumors confined to the uterus (FIGO 2009 stage I) demonstrate recurrence and the oncologic outcomes are highly related to recurrence patterns. This study aimed to verify whether the FIGO 2023 staging system could discriminate outcomes.
Materials and methods
Between January 2010 and March 2019, 536 FIGO 2009 stage I patients were eligible for this retrospective cohort study. Patient characteristics and clinicopathological data were retrieved from electronic medical records. The patients were reclassified according to the FIGO 2023 staging criteria. Oncological outcomes included the recurrence rate, recurrence pattern, and overall survival.
Results
Among the 536 eligible patients, the (sub)stage migration rate was 23.5 % from the FIGO 2009 to the FIGO 2023 stage system. FIGO 2023 staging system resulted in (sub)stage up-migration, mostly owing to aggressive histological types. A higher recurrence rate was detected in the FIGO 2023 stage II patients (12.3 %) compared to the stage I patients (6.9 %). In comparison to the FIGO 2023 stage I patients, the stage II patients had a higher distant recurrence rate (8.8 % vs. 2.6 %) and poorer overall survival (38.0 vs 69.0 months, p = 0.02).
Conclusion
Patients who are upstaged are prone to worse oncological outcomes, including distant recurrence and mortality. Therefore, comprehensive adjuvant treatment strategies based on each FIGO 2023 substage are imperative.
目的：约10- 15%的子宫内膜癌患者肿瘤局限于子宫（FIGO 2009期）复发，肿瘤预后与复发方式高度相关。本研究旨在验证FIGO 2023分期系统是否可以区分结果。材料和方法：2010年1月至2019年3月期间，536名FIGO 2009期I期患者入选了这项回顾性队列研究。从电子病历中检索患者特征和临床病理资料。根据FIGO 2023分期标准对患者进行重新分类。肿瘤预后包括复发率、复发模式和总生存期。结果：在536例符合条件的患者中，FIGO 2009分期系统向FIGO 2023分期系统的（亚）分期迁移率为23.5%。FIGO 2023分期系统导致（亚）期上迁移，主要是由于侵袭性组织学类型。FIGO 2023 II期患者的复发率（12.3%）高于I期患者（6.9%）。与FIGO 2023 I期患者相比，II期患者有更高的远处复发率（8.8% vs 2.6%）和更差的总生存期（38.0 vs 69.0个月，p = 0.02）。结论：被抢风头的患者易出现较差的肿瘤预后，包括远处复发和死亡率。因此，基于FIGO 2023各亚阶段的综合辅助治疗策略势在必行。
{"title":"FIGO 2023 staging system predicts not only survival outcome but also recurrence pattern in corpus-confined endometrial cancer patients","authors":"Hua-Hsi Wu , Hung-Tse Chou , Shih-Yao Lin , Chiung-Ru Lai , Yi-Jen Chen","doi":"10.1016/j.tjog.2024.09.020","DOIUrl":"10.1016/j.tjog.2024.09.020","url":null,"abstract":"<div><h3>Objective</h3><div>Approximately 10–15 % of endometrial cancer patients with tumors confined to the uterus (FIGO 2009 stage I) demonstrate recurrence and the oncologic outcomes are highly related to recurrence patterns. This study aimed to verify whether the FIGO 2023 staging system could discriminate outcomes.</div></div><div><h3>Materials and methods</h3><div>Between January 2010 and March 2019, 536 FIGO 2009 stage I patients were eligible for this retrospective cohort study. Patient characteristics and clinicopathological data were retrieved from electronic medical records. The patients were reclassified according to the FIGO 2023 staging criteria. Oncological outcomes included the recurrence rate, recurrence pattern, and overall survival.</div></div><div><h3>Results</h3><div>Among the 536 eligible patients, the (sub)stage migration rate was 23.5 % from the FIGO 2009 to the FIGO 2023 stage system. FIGO 2023 staging system resulted in (sub)stage up-migration, mostly owing to aggressive histological types. A higher recurrence rate was detected in the FIGO 2023 stage II patients (12.3 %) compared to the stage I patients (6.9 %). In comparison to the FIGO 2023 stage I patients, the stage II patients had a higher distant recurrence rate (8.8 % vs. 2.6 %) and poorer overall survival (38.0 vs 69.0 months, p = 0.02).</div></div><div><h3>Conclusion</h3><div>Patients who are upstaged are prone to worse oncological outcomes, including distant recurrence and mortality. Therefore, comprehensive adjuvant treatment strategies based on each FIGO 2023 substage are imperative.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 1","pages":"Pages 76-81"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967691","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}
Pub Date : 2025-01-01DOI: 10.1016/j.tjog.2024.07.022
Shigeki Matsubara
{"title":"Future paper productivity of obstetrics and gynecology residents: Before versus after the introduction of the new system demanding publishing papers during residency","authors":"Shigeki Matsubara","doi":"10.1016/j.tjog.2024.07.022","DOIUrl":"10.1016/j.tjog.2024.07.022","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 1","pages":"Pages 195-196"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967694","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}
Pub Date : 2025-01-01DOI: 10.1016/j.tjog.2024.10.010
Yi-Chieh Chen , Cheng-Yu Long , Chia-Yen Huang
{"title":"Small bowel evisceration through the vagina after transvaginal mesh surgery for genital prolapse","authors":"Yi-Chieh Chen , Cheng-Yu Long , Chia-Yen Huang","doi":"10.1016/j.tjog.2024.10.010","DOIUrl":"10.1016/j.tjog.2024.10.010","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 1","pages":"Pages 187-188"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967713","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}
Pub Date : 2025-01-01DOI: 10.1016/j.tjog.2024.12.001
Peng-Hui Wang , Szu-Ting Yang , Wen-Hsun Chang , Hung-Hsien Liu , Wen-Ling Lee
In the part I, we have already reported the rationale, efficacy, complication, and limitation of using transcervical resection of myoma (TCRM) in the management of women with symptomatic uterine fibroids, particularly for those belonging to the International Federation of Gynaecology & Obstetrics (FIGO) myoma classification system as FIGO types 0–2. The current review as part II, the discussion will focus on the techniques, tips and complication prevention or management when TCRM is applied in the management of women with symptomatic submucosal myoma. With better understanding for TCRM-related basic knowledge, such as rationale, efficacy, complication, technique review, tips and prevention or management of complications, plus the well-training and carefully performing TCRM through preceding accurate diagnosis, and good and careful preparation and intensive monitoring during operation and using effective strategy to preventing short-term and long-term complications, TCRM can become one of most powerful strategies in offering the less traumatic injury to the uterus, and an effective and safe surgical approach in dealing with women with symptomatic submucosal myoma.
{"title":"Transcervical resection of myoma (TCRM): Part II","authors":"Peng-Hui Wang , Szu-Ting Yang , Wen-Hsun Chang , Hung-Hsien Liu , Wen-Ling Lee","doi":"10.1016/j.tjog.2024.12.001","DOIUrl":"10.1016/j.tjog.2024.12.001","url":null,"abstract":"<div><div>In the part I, we have already reported the rationale, efficacy, complication, and limitation of using transcervical resection of myoma (TCRM) in the management of women with symptomatic uterine fibroids, particularly for those belonging to the International Federation of Gynaecology & Obstetrics (FIGO) myoma classification system as FIGO types 0–2. The current review as part II, the discussion will focus on the techniques, tips and complication prevention or management when TCRM is applied in the management of women with symptomatic submucosal myoma. With better understanding for TCRM-related basic knowledge, such as rationale, efficacy, complication, technique review, tips and prevention or management of complications, plus the well-training and carefully performing TCRM through preceding accurate diagnosis, and good and careful preparation and intensive monitoring during operation and using effective strategy to preventing short-term and long-term complications, TCRM can become one of most powerful strategies in offering the less traumatic injury to the uterus, and an effective and safe surgical approach in dealing with women with symptomatic submucosal myoma.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 1","pages":"Pages 34-39"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967716","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}
Pub Date : 2025-01-01DOI: 10.1016/j.tjog.2024.06.015
Shigeki Matsubara
{"title":"Award-winning sessions in medical meeting presentations: Dismissing the myth of co-presenters refraining from answering questions","authors":"Shigeki Matsubara","doi":"10.1016/j.tjog.2024.06.015","DOIUrl":"10.1016/j.tjog.2024.06.015","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 1","pages":"Pages 203-204"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967616","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}
Pub Date : 2025-01-01DOI: 10.1016/j.tjog.2024.06.014
Horng-Jyh Tsai
{"title":"Comment on “Optimal gestational weight gain in Taiwan: A retrospective cohort study”","authors":"Horng-Jyh Tsai","doi":"10.1016/j.tjog.2024.06.014","DOIUrl":"10.1016/j.tjog.2024.06.014","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 1","pages":"Page 202"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967622","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}
Pub Date : 2025-01-01DOI: 10.1016/j.tjog.2024.03.028
Yao-Lung Chang , Hsiu-Huei Peng , Hsueh-Chun Cheng , Chi-Yuan Chiang , Ho-Yen Chueh , Yu-Ting Lin , Chin-Pei Lee , Shuenn-Dyh Chang , Ming Chen
Objective
Prenatal diagnosis of fetal 13q34 microdeletion is a rare condition, which may present with abnormal fetal development, including facial dysmorphism, mental retardation, and developmental delay. We present a pregnant woman in whom the fetus presented with a 0.24-cm ventricular septal defect at 20 weeks of gestation, with fetal 13q34 (113610612–115092648) deletion. Previous fetus of the woman had 13q34 (113610612–115092648) duplication and normal prenatal ultrasound findings. Further parental karyotype, parental microarray-based comparative genomic hybridization (array CGH), and fluorescence in situ hybridization (FISH) study were performed to clarify this issue.
Case Report
In a 44-year-old pregnant woman, amniocentesis revealed a fetal karyotype of 46, XY,13qs and microarray-based comparative genomic hybridization (array CGH) showed 13q34 (113610612–115092948) deletion. Prenatal ultrasound at 20 weeks of gestation revealed normal fetal structure except ventricular septal defect 0.24 cm. The parents had strong desire to continue pregnancy even the possibility of mental or developmental issues.
Tracing back to her previous pregnancy, amniocentesis for the previous fetal karyotype revealed a normal 46, XX, and array CGH showed 13q34 (113610612–115092948) duplication. Prenatal ultrasound at 21 weeks of gestation revealed normal fetal structure. The parents decided to continue pregnancy and the baby was born at term with normal postnatal development. Parental karyotyping revealed maternal 46, XX and paternal 46, XY,13qs, and both array CGH were normal. Further paternal FISH study found 46,XY, t(13;22) (q34;p12).ish t(13;22) (Acro-p++; Acro-p+, LMP1+, D13S1825+), revealing translocation of the subtelomeric 13q and chromosomal 22 p arm. Based on these findings, the fetal karyotype in previous pregnancy should be 46,XX,der(22), t(13;22) (q34;p12).arr[GRCh37] 13q34 (113610612–115092648) × 3 pat. The fetal karyotype in this pregnancy should be 46,XY,der(13), t(13;22) (q34;p12).arr[GRCh37] 13q34 (113610612–115092648) × 1 pat.
Conclusion
Fetal 13q34 microdeletion may present with fetal ventricular septal defect on prenatal ultrasound. Fetal 13q34 microduplication with subsequent fetal 13q34 microdeletion is rare. Our case underscores the importance of the parental karyotype, parental array CGH, combined with FISH study to clarify this issue.
{"title":"Cryptic translocation involving two acrocentric chromosome ends revealed by fluorescence in situ hybridization after two consecutive pregnancies of which the results of chromosome microarray were mirror-imaged","authors":"Yao-Lung Chang , Hsiu-Huei Peng , Hsueh-Chun Cheng , Chi-Yuan Chiang , Ho-Yen Chueh , Yu-Ting Lin , Chin-Pei Lee , Shuenn-Dyh Chang , Ming Chen","doi":"10.1016/j.tjog.2024.03.028","DOIUrl":"10.1016/j.tjog.2024.03.028","url":null,"abstract":"<div><h3>Objective</h3><div>Prenatal diagnosis of fetal 13q34 microdeletion is a rare condition, which may present with abnormal fetal development, including facial dysmorphism, mental retardation, and developmental delay. We present a pregnant woman in whom the fetus presented with a 0.24-cm ventricular septal defect at 20 weeks of gestation, with fetal 13q34 (113610612–115092648) deletion. Previous fetus of the woman had 13q34 (113610612–115092648) duplication and normal prenatal ultrasound findings. Further parental karyotype, parental microarray-based comparative genomic hybridization (array CGH), and fluorescence in situ hybridization (FISH) study were performed to clarify this issue.</div></div><div><h3>Case Report</h3><div>In a 44-year-old pregnant woman, amniocentesis revealed a fetal karyotype of 46, XY,13qs and microarray-based comparative genomic hybridization (array CGH) showed 13q34 (113610612–115092948) deletion. Prenatal ultrasound at 20 weeks of gestation revealed normal fetal structure except ventricular septal defect 0.24 cm. The parents had strong desire to continue pregnancy even the possibility of mental or developmental issues.</div><div>Tracing back to her previous pregnancy, amniocentesis for the previous fetal karyotype revealed a normal 46, XX, and array CGH showed 13q34 (113610612–115092948) duplication. Prenatal ultrasound at 21 weeks of gestation revealed normal fetal structure. The parents decided to continue pregnancy and the baby was born at term with normal postnatal development. Parental karyotyping revealed maternal 46, XX and paternal 46, XY,13qs, and both array CGH were normal. Further paternal FISH study found 46,XY, t(13;22) (q34;p12).ish t(13;22) (Acro-p++; Acro-p+, LMP1+, D13S1825+), revealing translocation of the subtelomeric 13q and chromosomal 22 p arm. Based on these findings, the fetal karyotype in previous pregnancy should be 46,XX,der(22), t(13;22) (q34;p12).arr[GRCh37] 13q34 (113610612–115092648) × 3 pat. The fetal karyotype in this pregnancy should be 46,XY,der(13), t(13;22) (q34;p12).arr[GRCh37] 13q34 (113610612–115092648) × 1 pat.</div></div><div><h3>Conclusion</h3><div>Fetal 13q34 microdeletion may present with fetal ventricular septal defect on prenatal ultrasound. Fetal 13q34 microduplication with subsequent fetal 13q34 microdeletion is rare. Our case underscores the importance of the parental karyotype, parental array CGH, combined with FISH study to clarify this issue.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 1","pages":"Pages 146-150"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967625","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}
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