Pub Date : 2024-09-01DOI: 10.1016/j.tjog.2024.04.019
Objective
Our objective was to propose a laparoscopic modified simple ureteroneocystostomy for repairing iatrogenic ureteral injuries. In laparoscopic modified simple ureteroneocystostomy, the highest point of the bladder was found by cystoscopy, then we implanted a “fish mouth” ureter end into the bladder, leaving at least 1 cm of ureter end in the bladder as an anti-reflux procedure.
Case report
We retrospectively reviewed a case series of lower third iatrogenic ureter injury during gynecology surgery of 11 patients who received laparoscopic modified simple ureteroneocystostomy at Da Lin Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, from January 2011 to December 2020. One patient needs percutaneous nephrotomy due to infection and had the ureteroneocystostomy two months later. No obstruction, ureter stenosis/stricture, bladder leakage or other renal complications were noted after repair.
Conclusion
Laparoscopic modified simple ureteroneocystostomy is technically feasible for repairing lower third ureter injuries, with no major complications.
{"title":"Laparoscopic modified simple ureteroneocystomy in iatrogenic lower third ureter injury during gynecology surgery","authors":"","doi":"10.1016/j.tjog.2024.04.019","DOIUrl":"10.1016/j.tjog.2024.04.019","url":null,"abstract":"<div><h3>Objective</h3><p>Our objective was to propose a laparoscopic modified simple ureteroneocystostomy for repairing iatrogenic ureteral injuries. In laparoscopic modified simple ureteroneocystostomy, the highest point of the bladder was found by cystoscopy, then we implanted a “fish mouth” ureter end into the bladder, leaving at least 1 cm of ureter end in the bladder as an anti-reflux procedure.</p></div><div><h3>Case report</h3><p>We retrospectively reviewed a case series of lower third iatrogenic ureter injury during gynecology surgery of 11 patients who received laparoscopic modified simple ureteroneocystostomy at Da Lin Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, from January 2011 to December 2020. One patient needs percutaneous nephrotomy due to infection and had the ureteroneocystostomy two months later. No obstruction, ureter stenosis/stricture, bladder leakage or other renal complications were noted after repair.</p></div><div><h3>Conclusion</h3><p>Laparoscopic modified simple ureteroneocystostomy is technically feasible for repairing lower third ureter injuries, with no major complications.</p></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001931/pdfft?md5=67d73f553abce605325cee71a4211049&pid=1-s2.0-S1028455924001931-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142163844","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 : 2024-09-01DOI: 10.1016/j.tjog.2024.07.007
{"title":"Detection of tetrasomy 9p by chromosome microarray analysis and determination of maternal origin of the aberrant chromosome by quantitative fluorescent polymerase chain reaction in a second-trimester fetus with multiple anomalies on fetal ultrasound","authors":"","doi":"10.1016/j.tjog.2024.07.007","DOIUrl":"10.1016/j.tjog.2024.07.007","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001955/pdfft?md5=9d96e01a54f0d01279bc4d463e1c5973&pid=1-s2.0-S1028455924001955-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142164124","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 : 2024-09-01DOI: 10.1016/j.tjog.2024.06.001
{"title":"Unlock the future of minimally invasive therapy after six decades","authors":"","doi":"10.1016/j.tjog.2024.06.001","DOIUrl":"10.1016/j.tjog.2024.06.001","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001669/pdfft?md5=b98ea78e0f42dee79fd9e2e06052ed36&pid=1-s2.0-S1028455924001669-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142163725","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 : 2024-09-01DOI: 10.1016/j.tjog.2024.06.009
{"title":"Reply to “the role of probiotics in women's health: An update narrative review”","authors":"","doi":"10.1016/j.tjog.2024.06.009","DOIUrl":"10.1016/j.tjog.2024.06.009","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924002043/pdfft?md5=4460dd30e6eff862f0ffb20488be8a80&pid=1-s2.0-S1028455924002043-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142161905","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 : 2024-09-01DOI: 10.1016/j.tjog.2024.03.022
Objective
To present the ultrasound imaging and genetic diagnosis of a fetus with prenatal lethal form of Gaucher disease.
Case report
A 37-year-old primiparous woman was pregnant at her 23 weeks of gestation and the prenatal fetal ultrasound revealed hydrops fetalis, cerebellum hypoplasia, and fetal immobility. The pregnancy was terminated due to major fetal anomaly, and whole exome sequencing (WES) analysis of fetal tissue and parental blood unveiled a pathogenic variant in exon 10 of the GBA gene (NM_001005741.3: c.1265T > G: p.L422R) originating from the mother. Additionally, a novel CNV (chr1: 155204785–155205635 deletion, 0.85 kb) spanning exon 10–12 in the GBA gene was identified from the father. This compound heterozygosity confirmed the diagnosis of prenatal lethal form of Gaucher disease and was informative for genetic counseling.
Conclusion
WES is a powerful tool to detect pathogenic variants among fetuses with nonimmune hydrops fetalis and complex abnormality from prenatal ultrasound. Compound heterozygosity consisted of single nucleotide variants (SNV) and copy number variations (CNVs) may lead rare inherited metabolic disorders including prenatal lethal form of Gaucher disease.
病例报告 一位37岁的初产妇在妊娠23周时怀孕，产前胎儿超声检查发现胎儿水肿、小脑发育不良和胎儿不活动。胎儿组织和父母血液的全外显子组测序（WES）分析揭示了 GBA 基因第 10 外显子的致病变异（NM_001005741.3：c.1265T > G：p.L422R）来自母亲。此外，还发现了一个新的 CNV（chr1: 155204785-155205635 缺失，0.85 kb），横跨 GBA 基因的第 10-12 号外显子。这一复合杂合子确诊为产前致死型戈谢病，并为遗传咨询提供了信息。由单核苷酸变异（SNV）和拷贝数变异（CNV）组成的复合杂合性可能会导致罕见的遗传代谢性疾病，包括产前致死型戈谢病。
{"title":"Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report","authors":"","doi":"10.1016/j.tjog.2024.03.022","DOIUrl":"10.1016/j.tjog.2024.03.022","url":null,"abstract":"<div><h3>Objective</h3><p>To present the ultrasound imaging and genetic diagnosis of a fetus with prenatal lethal form of Gaucher disease.</p></div><div><h3>Case report</h3><p>A 37-year-old primiparous woman was pregnant at her 23 weeks of gestation and the prenatal fetal ultrasound revealed hydrops fetalis, cerebellum hypoplasia, and fetal immobility. The pregnancy was terminated due to major fetal anomaly, and whole exome sequencing (WES) analysis of fetal tissue and parental blood unveiled a pathogenic variant in exon 10 of the <em>GBA</em> gene (NM_001005741.3: c.1265T > G: p.L422R) originating from the mother. Additionally, a novel CNV (chr1: 155204785–155205635 deletion, 0.85 kb) spanning exon 10–12 in the <em>GBA</em> gene was identified from the father. This compound heterozygosity confirmed the diagnosis of prenatal lethal form of Gaucher disease and was informative for genetic counseling.</p></div><div><h3>Conclusion</h3><p>WES is a powerful tool to detect pathogenic variants among fetuses with nonimmune hydrops fetalis and complex abnormality from prenatal ultrasound. Compound heterozygosity consisted of single nucleotide variants (SNV) and copy number variations (CNVs) may lead rare inherited metabolic disorders including prenatal lethal form of Gaucher disease.</p></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S102845592400192X/pdfft?md5=12cea25a5b29435b1670de482182dfb4&pid=1-s2.0-S102845592400192X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142163843","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 : 2024-09-01DOI: 10.1016/j.tjog.2024.07.009
{"title":"Molecular cytogenetic analysis of mosaic 45,X/46,X,r(X) at amniocentesis in a fetus with hydrops fetalis","authors":"","doi":"10.1016/j.tjog.2024.07.009","DOIUrl":"10.1016/j.tjog.2024.07.009","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001979/pdfft?md5=2e07e265bade04a6669c7bbabd1a085b&pid=1-s2.0-S1028455924001979-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142162007","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 : 2024-09-01DOI: 10.1016/j.tjog.2024.05.022
Objective
This study presents the development and validation of a nomogram aimed at predicting platinum-sensitivity and survival outcomes in women with advanced epithelial ovarian cancer (EOC).
Materials and methods
Data from a retrospective cohort of women diagnosed with stage III/IV EOC between Jan 2011 and Dec 2021 treated at our institute were collected. Clinical and pathological characteristics were analyzed using logistic regression analysis to identify independent predictors of platinum-sensitivity. Impact on progression-free (PFS) and overall survival (OS) was determined by Kaplan–Meier and Cox regression analysis. A nomogram was constructed based on the significant predictors, and its performance was evaluated using calibration, discrimination, and validation analyses.
Results
Of the 210 patients, 139 (66.19%) had platinum-sensitive and 71 (33.81%) were platinum-resistant disease. On multivariate analysis, platinum-resistance correlated with neoadjuvant chemotherapy (OR 2.15; 95% CI 1.10–4.21), clear cell/mucinous histology (OR 5.04; 95% CI 2.20–11.54), and sub-optimal debulking status (OR 3.37; 95% CI 1.44–7.91). Median PFS and OS were also significantly shorter for patients with neoadjuvant chemotherapy (23 vs. 10 months and 69 vs. 29 months, respectively), clear cell/mucinous histology (15 vs. 3 months and 63 vs. 11 months, respectively), and suboptimal debulking (26 vs. 5 months and 78 vs. 24 months, respectively). The nomogram demonstrated good predictive accuracy for platinum-sensitivity in the cohort as indicated by high concordance index of 0.745. Calibration plots showed excellent agreement and internal validation further confirmed the reliability of the nomogram's performance.
Conclusion
A novel predictive nomogram based on type of initial treatment, histology, and debulking status was developed, which provides a friendly and reliable tool for predicting platinum-sensitivity and survival outcomes in women with advanced EOC. Its application may assist clinicians in individualizing treatment decisions.
材料和方法收集了2011年1月至2021年12月在我院接受治疗的III/IV期EOC女性患者的回顾性队列数据。采用逻辑回归分析法对临床和病理特征进行分析，以确定铂敏感性的独立预测因素。对无进展生存期（PFS）和总生存期（OS）的影响则通过卡普兰-梅耶（Kaplan-Meier）和考克斯回归分析来确定。结果 在 210 例患者中，139 例（66.19%）对铂敏感，71 例（33.81%）对铂耐药。在多变量分析中，铂耐药与新辅助化疗（OR 2.15；95% CI 1.10-4.21）、透明细胞/粘液组织学（OR 5.04；95% CI 2.20-11.54）和未达到最佳剥离状态（OR 3.37；95% CI 1.44-7.91）相关。接受新辅助化疗（分别为23个月对10个月和69个月对29个月）、透明细胞/黏液组织学（分别为15个月对3个月和63个月对11个月）和未达最佳剥除状态（分别为26个月对5个月和78个月对24个月）的患者的中位生存期和手术期也明显较短。队列中的提名图对铂敏感性具有良好的预测准确性，其一致性指数高达 0.745。结论 基于初始治疗类型、组织学和去势状态开发的新型预测提名图为预测晚期 EOC 女性患者的铂敏感性和生存结果提供了一种友好可靠的工具。它的应用可帮助临床医生做出个性化的治疗决定。
{"title":"A nomogram to predict platinum-sensitivity and survival outcome in women with advanced epithelial ovarian cancer","authors":"","doi":"10.1016/j.tjog.2024.05.022","DOIUrl":"10.1016/j.tjog.2024.05.022","url":null,"abstract":"<div><h3>Objective</h3><p>This study presents the development and validation of a nomogram aimed at predicting platinum-sensitivity and survival outcomes in women with advanced epithelial ovarian cancer (EOC).</p></div><div><h3>Materials and methods</h3><p>Data from a retrospective cohort of women diagnosed with stage III/IV EOC between Jan 2011 and Dec 2021 treated at our institute were collected. Clinical and pathological characteristics were analyzed using logistic regression analysis to identify independent predictors of platinum-sensitivity. Impact on progression-free (PFS) and overall survival (OS) was determined by Kaplan–Meier and Cox regression analysis. A nomogram was constructed based on the significant predictors, and its performance was evaluated using calibration, discrimination, and validation analyses.</p></div><div><h3>Results</h3><p>Of the 210 patients, 139 (66.19%) had platinum-sensitive and 71 (33.81%) were platinum-resistant disease. On multivariate analysis, platinum-resistance correlated with neoadjuvant chemotherapy (OR 2.15; 95% CI 1.10–4.21), clear cell/mucinous histology (OR 5.04; 95% CI 2.20–11.54), and sub-optimal debulking status (OR 3.37; 95% CI 1.44–7.91). Median PFS and OS were also significantly shorter for patients with neoadjuvant chemotherapy (23 vs. 10 months and 69 vs. 29 months, respectively), clear cell/mucinous histology (15 vs. 3 months and 63 vs. 11 months, respectively), and suboptimal debulking (26 vs. 5 months and 78 vs. 24 months, respectively). The nomogram demonstrated good predictive accuracy for platinum-sensitivity in the cohort as indicated by high concordance index of 0.745. Calibration plots showed excellent agreement and internal validation further confirmed the reliability of the nomogram's performance.</p></div><div><h3>Conclusion</h3><p>A novel predictive nomogram based on type of initial treatment, histology, and debulking status was developed, which provides a friendly and reliable tool for predicting platinum-sensitivity and survival outcomes in women with advanced EOC. Its application may assist clinicians in individualizing treatment decisions.</p></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001803/pdfft?md5=a3e5a2590791578826d96b40cbd06b64&pid=1-s2.0-S1028455924001803-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142163958","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 : 2024-09-01DOI: 10.1016/j.tjog.2024.05.024
{"title":"“The role of probiotics in women's health: An update narrative review.”","authors":"","doi":"10.1016/j.tjog.2024.05.024","DOIUrl":"10.1016/j.tjog.2024.05.024","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924002018/pdfft?md5=24d89683c46635051657ccc472c6bfab&pid=1-s2.0-S1028455924002018-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142163961","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 : 2024-09-01DOI: 10.1016/j.tjog.2024.03.021
Objective
Fetal venous system malformations frequently coincide with cardiac or extracardiac anomalies. This study explores our experience with an integrated fetal echocardiography approach and analyzes the characteristics and outcomes of fetal venous system disorders.
Materials and methods
We conducted a retrospective study with 7048 pregnant women (7255 fetuses) who underwent complete two-dimensional (2D) fetal echocardiographic examinations. We primarily employed an integrated 2D approach. Three-/four-dimensional (3D/4D) spatiotemporal image correlation was supplemental. Fetal venous disorders were classified into 3 groups: cardinal (Group 1), umbilical and vitelline (Group 2), and pulmonary (Group 3) systems, based on embryological-anatomical considerations. Maternofetal data were recorded alongside imaging diagnoses.
Results
Congenital venous malformations were identified in 98 fetuses, yielding a prevalence of 1.35% (98/7255). Six participants had coexisting venous disorders from different groups. Group 1 included 48 fetuses with persistent left superior vena cava (LSVC) and 3 others (unidentified brachiocephalic vein, left inferior vena cava (IVC), and interrupted IVC with azygous continuation to SVC). Group 2 had 39 fetuses with persistent right umbilical vein and 7 with umbilical-portal-ductus venosus disorders. Group 3 had 7 fetuses with pulmonary venous return disorders. Group 2 showed the most favorable outcomes (alive and without neonatal death), while Group 3 exhibited the poorest. Associated cardiac defects were observed in 43.1% of Group 1, 8.7% of Group 2, and 57.1% of Group 3 (P < 0.001), displaying a broad spectrum of non-specific anomalies. Meanwhile, Group 2 had a greater occurrence of a single venous disorder (93.5%) compared to Group 1 (88.2%) and Group 3 (57.1%) (P = 0.020).
Conclusion
Our approach offers an integrated strategy for assessing the fetal venous system during fetal echocardiography, providing multiple views to characterize venous anomalies. The presence of a fetal venous disorder may indicate the coexistence of more severe abnormalities, and the prognosis depends on associated anomalies or the venous disorders per se.
{"title":"Unraveling fetal venous disorders: An integrated approach in fetal echocardiography and their clinical significance","authors":"","doi":"10.1016/j.tjog.2024.03.021","DOIUrl":"10.1016/j.tjog.2024.03.021","url":null,"abstract":"<div><h3>Objective</h3><p>Fetal venous system malformations frequently coincide with cardiac or extracardiac anomalies. This study explores our experience with an integrated fetal echocardiography approach and analyzes the characteristics and outcomes of fetal venous system disorders.</p></div><div><h3>Materials and methods</h3><p>We conducted a retrospective study with 7048 pregnant women (7255 fetuses) who underwent complete two-dimensional (2D) fetal echocardiographic examinations. We primarily employed an integrated 2D approach. Three-/four-dimensional (3D/4D) spatiotemporal image correlation was supplemental. Fetal venous disorders were classified into 3 groups: cardinal (Group 1), umbilical and vitelline (Group 2), and pulmonary (Group 3) systems, based on embryological-anatomical considerations. Maternofetal data were recorded alongside imaging diagnoses.</p></div><div><h3>Results</h3><p>Congenital venous malformations were identified in 98 fetuses, yielding a prevalence of 1.35% (98/7255). Six participants had coexisting venous disorders from different groups. Group 1 included 48 fetuses with persistent left superior vena cava (LSVC) and 3 others (unidentified brachiocephalic vein, left inferior vena cava (IVC), and interrupted IVC with azygous continuation to SVC). Group 2 had 39 fetuses with persistent right umbilical vein and 7 with umbilical-portal-ductus venosus disorders. Group 3 had 7 fetuses with pulmonary venous return disorders. Group 2 showed the most favorable outcomes (alive and without neonatal death), while Group 3 exhibited the poorest. Associated cardiac defects were observed in 43.1% of Group 1, 8.7% of Group 2, and 57.1% of Group 3 (<em>P</em> < 0.001), displaying a broad spectrum of non-specific anomalies. Meanwhile, Group 2 had a greater occurrence of a single venous disorder (93.5%) compared to Group 1 (88.2%) and Group 3 (57.1%) (<em>P</em> = 0.020).</p></div><div><h3>Conclusion</h3><p>Our approach offers an integrated strategy for assessing the fetal venous system during fetal echocardiography, providing multiple views to characterize venous anomalies. The presence of a fetal venous disorder may indicate the coexistence of more severe abnormalities, and the prognosis depends on associated anomalies or the venous disorders per se.</p></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001797/pdfft?md5=e993dc1aa30886ca80a0a4f26dac0777&pid=1-s2.0-S1028455924001797-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142163633","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 : 2024-09-01DOI: 10.1016/j.tjog.2023.12.004
Objective
To help determine the pathogenicity of 4p16.1 microduplications, we reported two asymptomatic families carrying this variation.
Case report
We present the prenatal diagnosis and genetic analysis of two normal families with 4p16.1 microduplications.
Conclusion
This paper highlights two families with clinically asymptomatic 4p16.1 microduplications that assisted in determining the pathogenicity of this fragment. The findings can be used as a reference for genetic counseling in cases of similar abnormalities encountered during future prenatal diagnosis.
{"title":"Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications","authors":"","doi":"10.1016/j.tjog.2023.12.004","DOIUrl":"10.1016/j.tjog.2023.12.004","url":null,"abstract":"<div><h3>Objective</h3><p>To help determine the pathogenicity of 4p16.1 microduplications, we reported two asymptomatic families carrying this variation.</p></div><div><h3>Case report</h3><p>We present the prenatal diagnosis and genetic analysis of two normal families with 4p16.1 microduplications.</p></div><div><h3>Conclusion</h3><p>This paper highlights two families with clinically asymptomatic 4p16.1 microduplications that assisted in determining the pathogenicity of this fragment. The findings can be used as a reference for genetic counseling in cases of similar abnormalities encountered during future prenatal diagnosis.</p></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001906/pdfft?md5=39817ed5ca89f209642ab371de2fc41f&pid=1-s2.0-S1028455924001906-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142163841","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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