Pub Date : 2024-09-01DOI: 10.1016/j.tjog.2024.07.001
Genetic counseling of mosaicism for balanced translocation with a normal cell line at amniocentesis is not difficult because most of the reported cases have normal phenotypes. However, genetic counseling of mosaicism for unbalanced translocation with a normal cell line at amniocentesis remains difficult because cases with mosaic unbalanced translocation with a normal cell line at prenatal diagnosis have been reported to be associated with either normal or abnormal phenotype. This article makes a comprehensive review of the reported cases of de novo or familial mosaic unbalanced translocation with a normal cell line and various counseling issues such as meiotic event, post-zygotic mitotic event, culture artefact, chimerism, uniparental disomy (UPD), jumping translocation, cytogenetic discrepancy between cultured and uncultured amniocytes and among various tissues, perinatal progressive decrease of the unbalanced translocation cell line and a possible favorable fetal outcome. The information provided is useful for obstetricians and genetic counselors during genetic counseling of the parents who wish to keep the babies under such a circumstance.
{"title":"Genetic counseling of mosaicism for balanced or unbalanced translocation with a normal cell line at amniocentesis","authors":"","doi":"10.1016/j.tjog.2024.07.001","DOIUrl":"10.1016/j.tjog.2024.07.001","url":null,"abstract":"<div><p>Genetic counseling of mosaicism for balanced translocation with a normal cell line at amniocentesis is not difficult because most of the reported cases have normal phenotypes. However, genetic counseling of mosaicism for unbalanced translocation with a normal cell line at amniocentesis remains difficult because cases with mosaic unbalanced translocation with a normal cell line at prenatal diagnosis have been reported to be associated with either normal or abnormal phenotype. This article makes a comprehensive review of the reported cases of <em>de novo</em> or familial mosaic unbalanced translocation with a normal cell line and various counseling issues such as meiotic event, post-zygotic mitotic event, culture artefact, chimerism, uniparental disomy (UPD), jumping translocation, cytogenetic discrepancy between cultured and uncultured amniocytes and among various tissues, perinatal progressive decrease of the unbalanced translocation cell line and a possible favorable fetal outcome. The information provided is useful for obstetricians and genetic counselors during genetic counseling of the parents who wish to keep the babies under such a circumstance.</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/S1028455924001700/pdfft?md5=23f1e87fb870336ed49aa6de692923a8&pid=1-s2.0-S1028455924001700-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142163731","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.2023.12.005
Objective
Our aim is to demonstrate a rare cause of hemoperitoneum without vaginal bleeding resulting from the rupture of a uterine artery pseudoaneurysm after uncomplicated vaginal delivery.
Case report
A 39-year-old woman who had experienced a normal vaginal delivery 8 days previously to being seen in our hospital, was presented to the emergency room with hypovolemic shock. Computed tomography angiography (CTA) showed massive internal bleeding and a ruptured pseudoaneurysm arising from the left uterine artery. The patient was successfully treated through transcatheter arterial embolization (TAE).
Conclusion
A pseudoaneurysm is a rare disease which can occur during an uncomplicated vaginal delivery. The clinical presentation can vary from asymptomatic, vaginal bleeding or hemoperitoneum. The diagnosis can be made by using Doppler sonography, CTA or Magnetic Resonance Imaging. The use of TAE is now the most common treatment option and possesses a high success rate.
{"title":"Postpartum hemoperitoneum – A rare case of uterine artery pseudoaneurysm rupture after uncomplicated vaginal delivery","authors":"","doi":"10.1016/j.tjog.2023.12.005","DOIUrl":"10.1016/j.tjog.2023.12.005","url":null,"abstract":"<div><h3>Objective</h3><p>Our aim is to demonstrate a rare cause of hemoperitoneum without vaginal bleeding resulting from the rupture of a uterine artery pseudoaneurysm after uncomplicated vaginal delivery.</p></div><div><h3>Case report</h3><p>A 39-year-old woman who had experienced a normal vaginal delivery 8 days previously to being seen in our hospital, was presented to the emergency room with hypovolemic shock. Computed tomography angiography (CTA) showed massive internal bleeding and a ruptured pseudoaneurysm arising from the left uterine artery. The patient was successfully treated through transcatheter arterial embolization (TAE).</p></div><div><h3>Conclusion</h3><p>A pseudoaneurysm is a rare disease which can occur during an uncomplicated vaginal delivery. The clinical presentation can vary from asymptomatic, vaginal bleeding or hemoperitoneum. The diagnosis can be made by using Doppler sonography, CTA or Magnetic Resonance Imaging. The use of TAE is now the most common treatment option and possesses a high success rate.</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/S1028455924001918/pdfft?md5=a6ea8d99431d62c294d11c0c196a8e32&pid=1-s2.0-S1028455924001918-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142163842","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.2024.07.006
Objective
We present low-level mosaic trisomy 14 at amniocentesis.
Case report
A 37-year-old, gravida 2, para 1, woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer (IVF-ET). Amniocentesis revealed a karyotype of 47,XX,+14 [4]/46,XX [27], consistent with 12.9% mosaicism for trisomy 14. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (1–22, X) × 2 with no genomic imbalance. Prenatal ultrasound findings were unremarkable. She was referred for genetic counseling at 21 weeks of gestation and was offered expanded non-invasive prenatal testing (NIPT) which was positive for trisomy 14. At 24 weeks of gestation, she underwent repeat amniocentesis which revealed a karyotype of 47,XX,+14 [2]/46,XX [26], consistent with 7% mosaicism for trisomy 14. The parental karyotypes were normal. Simultaneous aCGH analysis on the DNA extracted from uncultured amniocytes revealed no genomic imbalance. Polymorphic marker analysis excluded uniparental disomy (UPD) 14. Interphase fluorescence in situ hybridization (FISH) analysis on 104 uncultured amniocytes detected no trisomy 14 cell. At 35 weeks of gestation, a 2315-g phenotypically normal baby was delivered. The umbilical cord and placenta had the karyotype of 46, XX (40/40 cells). aCGH analysis on the DNA extracted from peripheral blood and buccal mucosal cells at the age of three months revealed no genomic imbalance. The neonate was normal in phenotype and development during postnatal follow-ups.
Conclusions
Low-level mosaic trisomy 14 at amniocentesis can be associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 14 cell line and a favorable fetal outcome.
{"title":"Low-level mosaic trisomy 14 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, positive non-invasive prenatal testing for trisomy 14, perinatal progressive decrease of the trisomy 14 cell line and a favorable fetal outcome","authors":"","doi":"10.1016/j.tjog.2024.07.006","DOIUrl":"10.1016/j.tjog.2024.07.006","url":null,"abstract":"<div><h3>Objective</h3><p>We present low-level mosaic trisomy 14 at amniocentesis.</p></div><div><h3>Case report</h3><p>A 37-year-old, gravida 2, para 1, woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. This pregnancy was conceived by <em>in vitro</em> fertilization and embryo transfer (IVF-ET). Amniocentesis revealed a karyotype of 47,XX,+14 [4]/46,XX [27], consistent with 12.9% mosaicism for trisomy 14. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (1–22, X) × 2 with no genomic imbalance. Prenatal ultrasound findings were unremarkable. She was referred for genetic counseling at 21 weeks of gestation and was offered expanded non-invasive prenatal testing (NIPT) which was positive for trisomy 14. At 24 weeks of gestation, she underwent repeat amniocentesis which revealed a karyotype of 47,XX,+14 [2]/46,XX [26], consistent with 7% mosaicism for trisomy 14. The parental karyotypes were normal. Simultaneous aCGH analysis on the DNA extracted from uncultured amniocytes revealed no genomic imbalance. Polymorphic marker analysis excluded uniparental disomy (UPD) 14. Interphase fluorescence <em>in situ</em> hybridization (FISH) analysis on 104 uncultured amniocytes detected no trisomy 14 cell. At 35 weeks of gestation, a 2315-g phenotypically normal baby was delivered. The umbilical cord and placenta had the karyotype of 46, XX (40/40 cells). aCGH analysis on the DNA extracted from peripheral blood and buccal mucosal cells at the age of three months revealed no genomic imbalance. The neonate was normal in phenotype and development during postnatal follow-ups.</p></div><div><h3>Conclusions</h3><p>Low-level mosaic trisomy 14 at amniocentesis can be associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 14 cell line and a favorable fetal outcome.</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/S1028455924001888/pdfft?md5=70718a6574d09ffd36a85fd5df0d08a8&pid=1-s2.0-S1028455924001888-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142163971","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.2024.06.005
Objective
This case demonstrated the possibility of using GATA3-positive circulating tumor cells (CTCs) to detect early-stage breast cancer (BrC).
Case report
The 86 years old female patient received a mammographic examination with no evidence of malignancy (Breast Imaging Reporting and Data System, (BI-RADS category 2). However, CTC testing on the same day revealed four GATA3-positive CTCs in 4 ml of peripheral blood. Core needle biopsy was performed in the suspicious area even with no evidence of malignant image on breast ultrasound. Pathologic examination showed invasive carcinoma of no special type of the breast. The patient then received an oncoplastic partial mastectomy of right breast and sentinel lymph node biopsy. The surgical staging was cT1N0M0. Post-operation follow-up examination showed absence of GATA3-positive CTCs and the presence of HER2/ER positive CTCs.
Conclusion
The role of GATA3-positive CTCs as a potential biomarker for early-stage BrC should be explored.
{"title":"Detecting early-stage breast cancer with GATA3-positive circulating tumor cells","authors":"","doi":"10.1016/j.tjog.2024.06.005","DOIUrl":"10.1016/j.tjog.2024.06.005","url":null,"abstract":"<div><h3>Objective</h3><p>This case demonstrated the possibility of using GATA3-positive circulating tumor cells (CTCs) to detect early-stage breast cancer (BrC).</p></div><div><h3>Case report</h3><p>The 86 years old female patient received a mammographic examination with no evidence of malignancy <del>(</del>Breast Imaging Reporting and Data System, (BI-RADS category 2). However, CTC testing on the same day revealed four GATA3-positive CTCs in 4 ml of peripheral blood. Core needle biopsy was performed in the suspicious area even with no evidence of malignant image on breast ultrasound. Pathologic examination showed invasive carcinoma of no special type of the breast. The patient then received an oncoplastic partial mastectomy of right breast and sentinel lymph node biopsy. The surgical staging was cT1N0M0. Post-operation follow-up examination showed absence of GATA3-positive CTCs and the presence of HER2/ER positive CTCs.</p></div><div><h3>Conclusion</h3><p>The role of GATA3-positive CTCs as a potential biomarker for early-stage BrC should be explored.</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/S1028455924001864/pdfft?md5=da7b913aa1d0d659a0afb76db4e6d529&pid=1-s2.0-S1028455924001864-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142163969","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 : 2024-07-01DOI: 10.1016/j.tjog.2024.04.013
Adela Bazbaz, Armando Totomoch-Serra, Manlio F. Márquez-Murillo
{"title":"Relevant obstetrics outcomes and gynecology-related clinical data on Andersen-Tawil syndrome","authors":"Adela Bazbaz, Armando Totomoch-Serra, Manlio F. Márquez-Murillo","doi":"10.1016/j.tjog.2024.04.013","DOIUrl":"https://doi.org/10.1016/j.tjog.2024.04.013","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001499/pdfft?md5=8b70fea4bff06b7a73f274a32c6aa886&pid=1-s2.0-S1028455924001499-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605234","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 : 2024-07-01DOI: 10.1016/j.tjog.2024.04.006
Li Pan , Qiuhe Song , Fei Xiong , Fan Hong , Kun Zhu
The purpose of this review was to examine if maternal hypertensive disorders of pregnancy (HDP) and gestational diabetes mellitus (GDM) result in an increased risk of atopic dermatitis or eczema (AD-E) in childhood. We searched the databases of PubMed, Embase, CENTRAL, Web of Science, and Scopus for cohort or case–control studies up to 25th June 2023. Random-effects meta-analysis was done to generate the odds ratio (OR) of the association between HDP/GDM and AD-E. Eight studies were included. Meta-analysis of five studies showed that GDM in the mother was associated with an increased risk of AD-E in the offspring (OR: 1.35 95% CI: 1.13, 1.61 I2 = 61%). Pooled analysis of four studies demonstrated no association between HDP and risk of AD-E in the offspring (OR: 1.03 95% CI: 0.99, 1.08 I2 = 0%). The results did not change on sensitivity analysis and subgroup analysis based on study type, method of AD-E diagnosis, and sample size. This meta-analysis suggests that GDM may significantly increase the risk of AD-E in childhood, however, HDP does not seem to impact the risk of AD-E. Evidence is limited by the small number of studies and high interstudy heterogeneity. Further studies are needed to improve the quality of evidence.
{"title":"Association between hypertensive disorders of pregnancy and gestational diabetes and risk of atopic dermatitis in childhood: A systematic review and meta-analysis","authors":"Li Pan , Qiuhe Song , Fei Xiong , Fan Hong , Kun Zhu","doi":"10.1016/j.tjog.2024.04.006","DOIUrl":"https://doi.org/10.1016/j.tjog.2024.04.006","url":null,"abstract":"<div><p>The purpose of this review was to examine if maternal hypertensive disorders of pregnancy (HDP) and gestational diabetes mellitus (GDM) result in an increased risk of atopic dermatitis or eczema (AD-E) in childhood. We searched the databases of PubMed, Embase, CENTRAL, Web of Science, and Scopus for cohort or case–control studies up to 25th June 2023. Random-effects meta-analysis was done to generate the odds ratio (OR) of the association between HDP/GDM and AD-E. Eight studies were included. Meta-analysis of five studies showed that GDM in the mother was associated with an increased risk of AD-E in the offspring (OR: 1.35 95% CI: 1.13, 1.61 I<sup>2</sup> = 61%). Pooled analysis of four studies demonstrated no association between HDP and risk of AD-E in the offspring (OR: 1.03 95% CI: 0.99, 1.08 I<sup>2</sup> = 0%). The results did not change on sensitivity analysis and subgroup analysis based on study type, method of AD-E diagnosis, and sample size. This meta-analysis suggests that GDM may significantly increase the risk of AD-E in childhood, however, HDP does not seem to impact the risk of AD-E. Evidence is limited by the small number of studies and high interstudy heterogeneity. Further studies are needed to improve the quality of evidence.</p></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001220/pdfft?md5=eb06efd5130e1930328fe66eb586eabd&pid=1-s2.0-S1028455924001220-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605237","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 : 2024-07-01DOI: 10.1016/j.tjog.2024.05.015
Chih-Ping Chen
{"title":"Balanced reciprocal translocation mosaicism of mosaic 46,XY,t(4;10) (q12;p12.32)/46,XY at amniocentesis in a pregnancy with a favorable outcome and no prominent perinatal decrease of the balanced translocation cell line","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2024.05.015","DOIUrl":"https://doi.org/10.1016/j.tjog.2024.05.015","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001426/pdfft?md5=edff7874b0a51f8d30e38a3395b6d317&pid=1-s2.0-S1028455924001426-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141604882","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 : 2024-07-01DOI: 10.1016/j.tjog.2024.03.018
Ping-Lun Lin , Jung-Hsiu Hou , Chi-Huang Chen
Approximately 60% of patients undergoing Cesarean sections may develop Cesarean Scar Defect (CSD), presenting a significant clinical challenge amidst the increasing Cesarean section rates. This condition, marked by a notch in the anterior uterine wall, has evolved as a notable topic in gynecological research. The multifactorial origins of CSD can be broadly classified into labor-related factors, patients' physical conditions, and surgical quality. However, conflicting influences of certain factors across studies make it challenging to determine effective preventive strategies. Additionally, CSD manifests with diverse symptoms, such as abnormal uterine bleeding, dysmenorrhea, chronic pelvic pain, dyspareunia, secondary infertility, and Cesarean scar pregnancy. Some symptoms are often attributed to other diagnoses, leading to delayed treatment. The quandary of when and how to manage CSD also adds to the complexity. Despite the development of various therapies, clear indications and optimal methods for specific conditions remain elusive. This longstanding challenge has troubled clinicians in both identifying and addressing this iatrogenic disease.
Recent studies have yielded some compelling consensuses on various aspects of CSD. This review aims to consolidate the current literature on every facet of CSD. We hope to raise awareness among clinicians about this clinical problem, encouraging more relevant research to unveil the complete picture of CSD.
{"title":"A common problem between gynecology, obstetrics, and reproductive medicine: Cesarean section scar defect","authors":"Ping-Lun Lin , Jung-Hsiu Hou , Chi-Huang Chen","doi":"10.1016/j.tjog.2024.03.018","DOIUrl":"https://doi.org/10.1016/j.tjog.2024.03.018","url":null,"abstract":"<div><p>Approximately 60% of patients undergoing Cesarean sections may develop Cesarean Scar Defect (CSD), presenting a significant clinical challenge amidst the increasing Cesarean section rates. This condition, marked by a notch in the anterior uterine wall, has evolved as a notable topic in gynecological research. The multifactorial origins of CSD can be broadly classified into labor-related factors, patients' physical conditions, and surgical quality. However, conflicting influences of certain factors across studies make it challenging to determine effective preventive strategies. Additionally, CSD manifests with diverse symptoms, such as abnormal uterine bleeding, dysmenorrhea, chronic pelvic pain, dyspareunia, secondary infertility, and Cesarean scar pregnancy. Some symptoms are often attributed to other diagnoses, leading to delayed treatment. The quandary of when and how to manage CSD also adds to the complexity. Despite the development of various therapies, clear indications and optimal methods for specific conditions remain elusive. This longstanding challenge has troubled clinicians in both identifying and addressing this iatrogenic disease.</p><p>Recent studies have yielded some compelling consensuses on various aspects of CSD. This review aims to consolidate the current literature on every facet of CSD. We hope to raise awareness among clinicians about this clinical problem, encouraging more relevant research to unveil the complete picture of CSD.</p></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001207/pdfft?md5=b06870a5d3875ff9fb910dd22e8a6b32&pid=1-s2.0-S1028455924001207-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605228","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}
To assess the treatment efficacy of dienogest specifically in the Taiwanese population with endometriosis.
Materials and Methods
Eighty-eight patients diagnosed with endometriosis receiving at least 3 months of dienogest 2 mg once daily, from January 2018 to June 2022, were enrolled. They were divided into two groups: surgery group and non-surgery group. The assessment of pain improvement was based on visual analog scale (VAS) scores (0–100 mm) recorded at 0, 3, 6, and 12 months following the initiation of dienogest. Serum CA-125 value and ovarian endometrioma size were analyzed at 0 and 6 months.
Results
A total of 65 patients with endometriosis presented painful symptoms. In the surgery group (N = 28), the initial VAS score was 47.5 mm, which significantly declined to 9.6 mm at 3 months (p < 0.01), then to 7.5 mm, 2.9 mm, and 2.1 mm at 6, 9, and 12 months, respectively. In the non-surgery group (N = 37), the initial VAS score was 65.7 mm, which significantly declined to 13.2 mm at 3 months (p < 0.01) and 4.9 mm at 6 months (p < 0.05), remained low at 0.3 mm at both 9 and 12 months. Endometrioma size (N = 33) exhibited a significant 35% decrease from 38.2 mm to 24.8 mm after 6 months treatment (p < 0.01). Serum CA-125 levels showed significant improvement from 86.5 to 30.2 U/ml (p < 0.01) at 6 months.
Conclusion
This retrospective cohort study proved that dienogest is effective in reducing endometriosis-associated pain and endometrioma size in Taiwanese population.
{"title":"Dienogest treatment in women with endometriosis: A retrospective cohort study in Taiwan","authors":"Yi-Chieh Chen , Chia-Huang Chang , Ya-Lun Tsai , Ming-Song Tsai , Li-Ching Chen","doi":"10.1016/j.tjog.2024.04.009","DOIUrl":"https://doi.org/10.1016/j.tjog.2024.04.009","url":null,"abstract":"<div><h3>Objective</h3><p>To assess the treatment efficacy of dienogest specifically in the Taiwanese population with endometriosis.</p></div><div><h3>Materials and Methods</h3><p>Eighty-eight patients diagnosed with endometriosis receiving at least 3 months of dienogest 2 mg once daily, from January 2018 to June 2022, were enrolled. They were divided into two groups: surgery group and non-surgery group. The assessment of pain improvement was based on visual analog scale (VAS) scores (0–100 mm) recorded at 0, 3, 6, and 12 months following the initiation of dienogest. Serum CA-125 value and ovarian endometrioma size were analyzed at 0 and 6 months.</p></div><div><h3>Results</h3><p>A total of 65 patients with endometriosis presented painful symptoms. In the surgery group (N = 28), the initial VAS score was 47.5 mm, which significantly declined to 9.6 mm at 3 months (p < 0.01), then to 7.5 mm, 2.9 mm, and 2.1 mm at 6, 9, and 12 months, respectively. In the non-surgery group (N = 37), the initial VAS score was 65.7 mm, which significantly declined to 13.2 mm at 3 months (p < 0.01) and 4.9 mm at 6 months (p < 0.05), remained low at 0.3 mm at both 9 and 12 months. Endometrioma size (N = 33) exhibited a significant 35% decrease from 38.2 mm to 24.8 mm after 6 months treatment (p < 0.01). Serum CA-125 levels showed significant improvement from 86.5 to 30.2 U/ml (p < 0.01) at 6 months.</p></div><div><h3>Conclusion</h3><p>This retrospective cohort study proved that dienogest is effective in reducing endometriosis-associated pain and endometrioma size in Taiwanese population.</p></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S102845592400130X/pdfft?md5=38b65bc20f7b9796ed96a263489e7dba&pid=1-s2.0-S102845592400130X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605402","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 : 2024-07-01DOI: 10.1016/j.tjog.2024.05.010
Chih-Ping Chen , Fang-Tzu Wu , Yen-Ting Pan , Peih-Shan Wu , Meng-Shan Lee , Wayseen Wang
Objective
We present prenatal diagnosis of familial 3p26.3p25.3 deletion in a pregnancy associated with a favorable fetal outcome and asymptomatic carrier parent and family members in three generations.
Case Report
A 35-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age and the carrier of distal 3p deletion. She was phenotypically normal, and there was no family history of congenital anomalies. Amniocentesis revealed a karyotype of 46,XY,del(3)(p26.1). Repeat amniocentesis at 21 weeks of gestation revealed a karyotype of 46,XY,del(3)(p25.3). Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes showed the result of arr 3p26.3p25.3 (117,735–8,709,972) × 1.0 [GRCh37 (hg19)] with an 8.59-Mb deletion of 3p26.3p25.3 encompassing 14 OMIM genes of CHL1, CNTN6, CNTN4, IL5RA, TRNT1, CRBN, SETMAR, SUMF1, ITPR1, BHLHE40, ARL8B, GRM7, LMCD1 and SSUH2. Cytogenetic analysis of parental bloods revealed a karyotype of 46,XX,del (3) (p25.3) in the mother and 46,XY in the father. The woman's 69-year-old mother and her 2-year-old elder son carried the same aberrant chromosome of 3p25.3→p26.3 deletion by conventional cytogenetic analysis but manifested no phenotypic abnormality. aCGH analysis of the peripheral bloods showed that the woman's mother and her elder son had the same 8.59-Mb deletion of 3p26.3p25.3. The woman was advised to continue the pregnancy. At 39 weeks of gestation, a 3040-g healthy male baby was delivered. When follow-up at age 2½ years, the neonate was normal in development and showed no apparent phenotypic abnormality.
Conclusion
Distal 3p deletion of 3p26.3p25.3 involving the OMIM genes from CHL1 to SSUH2 can be associated with no apparent phenotypic abnormality.
{"title":"Prenatal diagnosis of familial 3p26.3p25.3 deletion in a pregnancy associated with a favorable fetal outcome and asymptomatic carrier parent and family members in three generations","authors":"Chih-Ping Chen , Fang-Tzu Wu , Yen-Ting Pan , Peih-Shan Wu , Meng-Shan Lee , Wayseen Wang","doi":"10.1016/j.tjog.2024.05.010","DOIUrl":"https://doi.org/10.1016/j.tjog.2024.05.010","url":null,"abstract":"<div><h3>Objective</h3><p>We present prenatal diagnosis of familial 3p26.3p25.3 deletion in a pregnancy associated with a favorable fetal outcome and asymptomatic carrier parent and family members in three generations.</p></div><div><h3>Case Report</h3><p>A 35-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age and the carrier of distal 3p deletion. She was phenotypically normal, and there was no family history of congenital anomalies. Amniocentesis revealed a karyotype of 46,XY,del(3)(p26.1). Repeat amniocentesis at 21 weeks of gestation revealed a karyotype of 46,XY,del(3)(p25.3). Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes showed the result of arr 3p26.3p25.3 (117,735–8,709,972) × 1.0 [GRCh37 (hg19)] with an 8.59-Mb deletion of 3p26.3p25.3 encompassing 14 OMIM genes of <em>CHL1</em>, <em>CNTN6</em>, <em>CNTN4</em>, <em>IL5RA</em>, <em>TRNT1</em>, <em>CRBN</em>, <em>SETMAR</em>, <em>SUMF1</em>, <em>ITPR1</em>, <em>BHLHE40</em>, <em>ARL8B</em>, <em>GRM7</em>, <em>LMCD1</em> and <em>SSUH2</em>. Cytogenetic analysis of parental bloods revealed a karyotype of 46,XX,del (3) (p25.3) in the mother and 46,XY in the father. The woman's 69-year-old mother and her 2-year-old elder son carried the same aberrant chromosome of 3p25.3→p26.3 deletion by conventional cytogenetic analysis but manifested no phenotypic abnormality. aCGH analysis of the peripheral bloods showed that the woman's mother and her elder son had the same 8.59-Mb deletion of 3p26.3p25.3. The woman was advised to continue the pregnancy. At 39 weeks of gestation, a 3040-g healthy male baby was delivered. When follow-up at age 2½ years, the neonate was normal in development and showed no apparent phenotypic abnormality.</p></div><div><h3>Conclusion</h3><p>Distal 3p deletion of 3p26.3p25.3 involving the OMIM genes from <em>CHL1</em> to <em>SSUH2</em> can be associated with no apparent phenotypic abnormality.</p></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001372/pdfft?md5=a086a94126f8f475fb4b82fdb8f45167&pid=1-s2.0-S1028455924001372-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605229","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}