Pub Date : 2025-11-01DOI: 10.1016/j.tjog.2025.04.020
Rui Hou , Yu-Han Liu , Jing Gong , Jun-Xue Gao
Objective
To report a new type of sirenomelia in early pregnancy, which was different from the reported types.
Case report
A 33-year-old Chinese pregnant women (gravida 1 and para 1) attended our hospital in early pregnancy for a routine prenatal ultrasound screening. The Ultrasonography showed fused lower extremities that moved at unison. Two femurs in the thigh were present, while the tibias and fibulas were absent. The right upper limb was not confirmed, with a soft tissue mass located in the right upper limb region. In addition, it revealed an anechoic structure in the posterior cervical region initially diagnosed as cystic hygroma. There was only one umbilical artery and one umbilical vein visible within the umbilical cord.
Conclusion
A new type of sirenomelia was diagnosed through 2D and 3D Ultrasonography in early pregnancy, which was different from the reported types and was then considered as a new subtype.
{"title":"A new type of sirenomelia with dysplastic upper limb and cystic hygroma diagnosed in early pregnancy through 2D and 3D ultrasonography: case report","authors":"Rui Hou , Yu-Han Liu , Jing Gong , Jun-Xue Gao","doi":"10.1016/j.tjog.2025.04.020","DOIUrl":"10.1016/j.tjog.2025.04.020","url":null,"abstract":"<div><h3>Objective</h3><div>To report a new type of sirenomelia in early pregnancy, which was different from the reported types.</div></div><div><h3>Case report</h3><div>A 33-year-old Chinese pregnant women (gravida 1 and para 1) attended our hospital in early pregnancy for a routine prenatal ultrasound screening. The Ultrasonography showed fused lower extremities that moved at unison. Two femurs in the thigh were present, while the tibias and fibulas were absent. The right upper limb was not confirmed, with a soft tissue mass located in the right upper limb region. In addition, it revealed an anechoic structure in the posterior cervical region initially diagnosed as cystic hygroma. There was only one umbilical artery and one umbilical vein visible within the umbilical cord.</div></div><div><h3>Conclusion</h3><div>A new type of sirenomelia was diagnosed through 2D and 3D Ultrasonography in early pregnancy, which was different from the reported types and was then considered as a new subtype.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 6","pages":"Pages 1065-1068"},"PeriodicalIF":2.2,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145475705","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}
Pub Date : 2025-11-01DOI: 10.1016/j.tjog.2025.09.017
Chih-Ping Chen , Li-Ling Lin , Fang-Tzu Wu , Yen-Ting Pan , Wayseen Wang
{"title":"High-level mosaic trisomy 9 at amniocentesis in a pregnancy with intrauterine growth restriction, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 9 cell line and a favorable fetal outcome","authors":"Chih-Ping Chen , Li-Ling Lin , Fang-Tzu Wu , Yen-Ting Pan , Wayseen Wang","doi":"10.1016/j.tjog.2025.09.017","DOIUrl":"10.1016/j.tjog.2025.09.017","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 6","pages":"Pages 1123-1127"},"PeriodicalIF":2.2,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145476074","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}
Pub Date : 2025-09-01DOI: 10.1016/j.tjog.2025.07.008
Chih-Ping Chen
{"title":"Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with perinatal decrease of the trisomy 2 cell line and a favorable fetal outcome","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2025.07.008","DOIUrl":"10.1016/j.tjog.2025.07.008","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 5","pages":"Pages 898-899"},"PeriodicalIF":2.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027072","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}
Pub Date : 2025-09-01DOI: 10.1016/j.tjog.2025.07.009
Chih-Ping Chen , Fang-Tzu Wu , Yen-Ting Pan , Wayseen Wang
{"title":"Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with oligohydramnios, intrauterine growth restriction, maternal uniparental isodisomy 2 and a homozygous missense mutation in CIAO1 in the fetus","authors":"Chih-Ping Chen , Fang-Tzu Wu , Yen-Ting Pan , Wayseen Wang","doi":"10.1016/j.tjog.2025.07.009","DOIUrl":"10.1016/j.tjog.2025.07.009","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 5","pages":"Pages 900-904"},"PeriodicalIF":2.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027073","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}
Pub Date : 2025-09-01DOI: 10.1016/j.tjog.2025.07.010
Chih-Ping Chen
{"title":"Prenatal diagnosis of a familial 1p36.33 microduplication and 4q35.1q35.2 microdeletion associated with no apparently phenotypic abnormality in the family carrier members and the fetus","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2025.07.010","DOIUrl":"10.1016/j.tjog.2025.07.010","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 5","pages":"Pages 905-907"},"PeriodicalIF":2.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027074","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}
Pub Date : 2025-09-01DOI: 10.1016/j.tjog.2024.10.026
Tzu-Hsiang Hsieh , Shuenn-Dhy Chang , Tsia-Shu Lo , Yi-Hao Lin , Le-Tien Hsu , Ching-Chung Liang
Objective
This study aimed to investigate the effectiveness of laparoscopic sacrocolpopexy (LSCP) in the treatment of pelvic organ prolapse (POP), specifically its impact on the incidence of de novo stress urinary incontinence (SUI) and changes in sexual function.
Materials and methods
This cohort study involved 34 women with stage 3 and 4 POP who underwent LSCP between 2017 and 2022. Baseline and 6-month postoperative assessments were conducted using urodynamic studies and several various incontinence and prolapse questionnaires to assess LUTS, de novo SUI, sexual function, and quality of life. Subsequently, patients were evaluated every 6 months with bladder diaries and POP-Q quantification system assessment.
Results
LSCP led to significant improvements in POP, urinary frequency and SUI. Significant advancements were observed across 3 questionnaires: Incontinence Impact Questionnaire (IIQ-7), Pelvic Organ Prolapse Distress Inventory 6 (POPDI-6) and Pelvic Organ Prolapse/Urinary Incontinence Sexual Function Questionnaire (PISQ-12). Of the 34 patients, 16.7 % (3/18) experienced de novo SUI and 2.9 % developed vaginal mesh exposure postoperatively. Risk elements for de novo SUI included a higher BMI and preoperative SUI. LSCP effectively alleviated LUTS, reducing urinary frequency from an average of 14.7 to 8.4 episodes per day (P = 0.009), and significantly improved prolapse symptoms and sexual function, as reflected in POPDI-6 and PISQ-12 scores.
Conclusions
LSCP demonstrates high efficacy in the treatment of POP, significantly ameliorating LUTS and sexual function, while maintaining a low complication rate. Notably, elevated BMI and preoperative SUI emerge as significant risk elements for the development of de novo SUI.
{"title":"Evaluation of lower urinary tract symptoms and sexual function after laparoscopic sacrocolpopexy","authors":"Tzu-Hsiang Hsieh , Shuenn-Dhy Chang , Tsia-Shu Lo , Yi-Hao Lin , Le-Tien Hsu , Ching-Chung Liang","doi":"10.1016/j.tjog.2024.10.026","DOIUrl":"10.1016/j.tjog.2024.10.026","url":null,"abstract":"<div><h3>Objective</h3><div>This study aimed to investigate the effectiveness of laparoscopic sacrocolpopexy (LSCP) in the treatment of pelvic organ prolapse (POP), specifically its impact on the incidence of <em>de novo</em> stress urinary incontinence (SUI) and changes in sexual function.</div></div><div><h3>Materials and methods</h3><div>This cohort study involved 34 women with stage 3 and 4 POP who underwent LSCP between 2017 and 2022. Baseline and 6-month postoperative assessments were conducted using urodynamic studies and several various incontinence and prolapse questionnaires to assess LUTS, <em>de novo</em> SUI, sexual function, and quality of life. Subsequently, patients were evaluated every 6 months with bladder diaries and POP-Q quantification system assessment.</div></div><div><h3>Results</h3><div>LSCP led to significant improvements in POP, urinary frequency and SUI. Significant advancements were observed across 3 questionnaires: Incontinence Impact Questionnaire (IIQ-7), Pelvic Organ Prolapse Distress Inventory 6 (POPDI-6) and Pelvic Organ Prolapse/Urinary Incontinence Sexual Function Questionnaire (PISQ-12). Of the 34 patients, 16.7 % (3/18) experienced <em>de novo</em> SUI and 2.9 % developed vaginal mesh exposure postoperatively. Risk elements for <em>de novo</em> SUI included a higher BMI and preoperative SUI. LSCP effectively alleviated LUTS, reducing urinary frequency from an average of 14.7 to 8.4 episodes per day (P = 0.009), and significantly improved prolapse symptoms and sexual function, as reflected in POPDI-6 and PISQ-12 scores.</div></div><div><h3>Conclusions</h3><div>LSCP demonstrates high efficacy in the treatment of POP, significantly ameliorating LUTS and sexual function, while maintaining a low complication rate. Notably, elevated BMI and preoperative SUI emerge as significant risk elements for the development of <em>de novo</em> SUI.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 5","pages":"Pages 831-836"},"PeriodicalIF":2.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027632","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}
Pub Date : 2025-09-01DOI: 10.1016/j.tjog.2024.10.024
Hyen Chul Jo , Ji Eun Park , Jong Chul Baek , Juseok Yang
Objective
To report a case of mosaic trisomy 17 with inconsistent findings between noninvasive prenatal testing (NIPT) and genetic amniocentesis.
Case report
A 34-year-old primigravid woman presented for antenatal care at 9 weeks of gestation. At 13 weeks, she opted for NIPT based on next-generation sequencing, which yielded a negative result. Five weeks later, fetal intracardiac calcification was observed, prompting genetic amniocentesis at 18 weeks. The initial amniocentesis revealed a karyotype of mos 47,XX,+17[5]/46,XX[25]inv(9) (p12q13) in 5 out of 30 colonies, suggesting possible pseudo-mosaicism. A repeat amniocentesis two weeks later confirmed mosaic trisomy 17 and inversion 9 of p12q13 in 10 out of 34 colonies from two cultures. Despite normal prenatal ultrasound findings, the patient chose to terminate the pregnancy due to the potential for severe clinical outcomes associated with mosaic trisomy 17. Postnatal work-up was declined.
Conclusion
This case highlights the limitations of NIPT and the importance of confirmatory diagnostic testing. The findings underscore the need for meticulous genetic counseling and informed consent, particularly in cases with suspected chromosomal anomalies.
{"title":"A case of mosaic trisomy 17 with inconsistent findings between noninvasive prenatal testing and genetic amniocentesis","authors":"Hyen Chul Jo , Ji Eun Park , Jong Chul Baek , Juseok Yang","doi":"10.1016/j.tjog.2024.10.024","DOIUrl":"10.1016/j.tjog.2024.10.024","url":null,"abstract":"<div><h3>Objective</h3><div>To report a case of mosaic trisomy 17 with inconsistent findings between noninvasive prenatal testing (NIPT) and genetic amniocentesis.</div></div><div><h3>Case report</h3><div>A 34-year-old primigravid woman presented for antenatal care at 9 weeks of gestation. At 13 weeks, she opted for NIPT based on next-generation sequencing, which yielded a negative result. Five weeks later, fetal intracardiac calcification was observed, prompting genetic amniocentesis at 18 weeks. The initial amniocentesis revealed a karyotype of mos 47,XX,+17[5]/46,XX[25]inv(9) (p12q13) in 5 out of 30 colonies, suggesting possible pseudo-mosaicism. A repeat amniocentesis two weeks later confirmed mosaic trisomy 17 and inversion 9 of p12q13 in 10 out of 34 colonies from two cultures. Despite normal prenatal ultrasound findings, the patient chose to terminate the pregnancy due to the potential for severe clinical outcomes associated with mosaic trisomy 17. Postnatal work-up was declined.</div></div><div><h3>Conclusion</h3><div>This case highlights the limitations of NIPT and the importance of confirmatory diagnostic testing. The findings underscore the need for meticulous genetic counseling and informed consent, particularly in cases with suspected chromosomal anomalies.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 5","pages":"Pages 851-853"},"PeriodicalIF":2.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027635","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}
Pub Date : 2025-09-01DOI: 10.1016/j.tjog.2025.04.016
Shanshan Shi , Shaobin Lin , Zhiming He
Objective
Specific alleles of the RET gene (rs2506030, rs7069590 and rs2435357) are associated with an increased risk of Hirschsprung disease (HSCR). This study aimed to investigate the modified effects of these functionally independent enhancer variants on the penetrance of RET-associated HSCR in a Chinese family with three adverse pregnancy outcomes.
Case report
A 31-year-old pregnant woman underwent amniocentesis at 24 weeks of gestation due to two adverse pregnancy outcomes and abnormalities on prenatal ultrasound for the pregnancy, which manifested as fetal echogenic bowel and left renal agenesis. Chromosomal microarray and trio whole-genome sequencing analyses were performed. The fetus was found to carry a novel heterozygous nonsense variant, c.1840G > T p.(Glu614Ter), in the RET allele inherited from the asymptomatic mother and asymptomatic maternal grandfather. Genotype information was obtained for the three RET single-nucleotide polymorphisms. Moreover, co-segregation analysis of the coding and non-coding regions of RET was performed in the selected family members using Sanger sequencing. The high-risk GTT haplotype was identified in the fetus, which was inherited from the father, whereas the low-risk GTC haplotype was identified in the relatives carrying the RET c.1840G > T variant who did not have HSCR. The absence of the high-risk GTT haplotype in cis may explain the normal phenotype of the carriers with this RET variant. Therefore, prenatal intervention and subsequent preimplantation genetic testing were conducted in this family.
Conclusions
Compound inheritance of rare and common RET variants was identified as the likely cause of the three adverse pregnancy outcomes in this family. Our study revealed that prenatal intervention and preimplantation genetic testing are recommended in this family. In addition, we speculated that compound inheritance may influence RET-related renal agenesis.
{"title":"Compound inheritance of rare and common RET variants in a Chinese family with three unfavorable pregnancies involving Hirschsprung's disease","authors":"Shanshan Shi , Shaobin Lin , Zhiming He","doi":"10.1016/j.tjog.2025.04.016","DOIUrl":"10.1016/j.tjog.2025.04.016","url":null,"abstract":"<div><h3>Objective</h3><div>Specific alleles of the <em>RET</em> gene (rs2506030, rs7069590 and rs2435357) are associated with an increased risk of Hirschsprung disease (HSCR). This study aimed to investigate the modified effects of these functionally independent enhancer variants on the penetrance of <em>RET</em>-associated HSCR in a Chinese family with three adverse pregnancy outcomes.</div></div><div><h3>Case report</h3><div>A 31-year-old pregnant woman underwent amniocentesis at 24 weeks of gestation due to two adverse pregnancy outcomes and abnormalities on prenatal ultrasound for the pregnancy, which manifested as fetal echogenic bowel and left renal agenesis. Chromosomal microarray and trio whole-genome sequencing analyses were performed. The fetus was found to carry a <em>novel</em> heterozygous nonsense variant, c.1840G > T p.(Glu614Ter), in the <em>RET</em> allele inherited from the asymptomatic mother and asymptomatic maternal grandfather. Genotype information was obtained for the three <em>RET</em> single-nucleotide polymorphisms. Moreover, co-segregation analysis of the coding and non-coding regions of <em>RET</em> was performed in the selected family members using Sanger sequencing. The high-risk GTT haplotype was identified in the fetus, which was inherited from the father, whereas the low-risk GTC haplotype was identified in the relatives carrying the <em>RET</em> c.1840G > T variant who did not have HSCR. The absence of the high-risk GTT haplotype in cis may explain the normal phenotype of the carriers with this <em>RET</em> variant. Therefore, prenatal intervention and subsequent preimplantation genetic testing were conducted in this family.</div></div><div><h3>Conclusions</h3><div>Compound inheritance of rare and common <em>RET</em> variants was identified as the likely cause of the three adverse pregnancy outcomes in this family. Our study revealed that prenatal intervention and preimplantation genetic testing are recommended in this family. In addition, we speculated that compound inheritance may influence <em>RET</em>-related renal agenesis.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 5","pages":"Pages 859-864"},"PeriodicalIF":2.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027637","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}
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