Pub Date : 2024-10-29DOI: 10.1016/j.tjog.2024.09.005
{"title":"Antibody–drug conjugates (ADCs) may be a big breakthrough in gynecologic cancer treatment (I)","authors":"","doi":"10.1016/j.tjog.2024.09.005","DOIUrl":"10.1016/j.tjog.2024.09.005","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142539912","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 : 2024-10-29DOI: 10.1016/j.tjog.2024.08.003
Objective
Abnormal uterine bleeding (AUB) is a prevalent condition in reproductive-aged women that significantly decreases the quality of life. A thorough history is necessary to determine the causes of AUB, which were categorized by the AUB System 2 (PALM-COEIN). AUB has been associated with retained intrauterine objects. However, studies regarding AUB caused by retained stitches of the cervical cerclage were limited.
Case Report
We present two cases of AUB caused by retained stitches of the cervical cerclage. Both cases were successfully treated by removing the retained stitches by hysteroscopy.
Conclusion
A comprehensive history is crucial to AUB evaluation, especially a previous history of iatrogenic processes, such as intrauterine device placement, retained cerclage stitches, or other foreign bodies.
{"title":"Erosive stitches of cervical cerclage as a factor of abnormal uterine bleeding: A report of two cases","authors":"","doi":"10.1016/j.tjog.2024.08.003","DOIUrl":"10.1016/j.tjog.2024.08.003","url":null,"abstract":"<div><h3>Objective</h3><div>Abnormal uterine bleeding (AUB) is a prevalent condition in reproductive-aged women that significantly decreases the quality of life. A thorough history is necessary to determine the causes of AUB, which were categorized by the AUB System 2 (PALM-COEIN). AUB has been associated with retained intrauterine objects. However, studies regarding AUB caused by retained stitches of the cervical cerclage were limited.</div></div><div><h3>Case Report</h3><div>We present two cases of AUB caused by retained stitches of the cervical cerclage. Both cases were successfully treated by removing the retained stitches by hysteroscopy.</div></div><div><h3>Conclusion</h3><div>A comprehensive history is crucial to AUB evaluation, especially a previous history of iatrogenic processes, such as intrauterine device placement, retained cerclage stitches, or other foreign bodies.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142539993","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 : 2024-10-29DOI: 10.1016/j.tjog.2024.09.016
{"title":"Detection of a heterozygous de novo pathogenic variant in the PTPN11 gene (c.1505 C > T, p.S502L) in a fetus associated with cystic hygroma and congenital heart defects","authors":"","doi":"10.1016/j.tjog.2024.09.016","DOIUrl":"10.1016/j.tjog.2024.09.016","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142540077","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 : 2024-10-29DOI: 10.1016/j.tjog.2024.09.017
{"title":"Mosaicism for r(20) or 46,XY,r(20)(p13q13.3)/46,XY at amniocentesis in a pregnancy with a favorable outcome and no prominent perinatal decrease of the r(20) cell line with no genomic imbalance","authors":"","doi":"10.1016/j.tjog.2024.09.017","DOIUrl":"10.1016/j.tjog.2024.09.017","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142540078","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 : 2024-10-29DOI: 10.1016/j.tjog.2024.03.024
Objective
To investigate the prevalence and longitudinal trend of severe maternal morbidity (SMM) at nationwide level in Taiwan. The associated maternal factors contributing to SMM were also analyzed.
Materials and methods
A population-based secondary analysis using administrative datasets released by Ministry of Health and Welfare of Taiwan from 2011 to 2021 was carried out. SMM was defined from ICD-9 or10-CM diagnosis and procedure codes previously released by CDC. The existence of any SMM indicators identified by delivery and postpartum hospitalizations between≧20 weeks of gestational age and within 42 days after childbirth was retrieved for analysis. Kendall Tau-b correlation was applied for trend test. Logistic regression was used to investigate the associated maternal factors for SMM. All the data were analyzed using SAS statistical software version 9.4. Statistical significance was defined as P value < 0.05.
Results
A total of 2,054,010 delivery hospitalization records were identified during the study period. 6961 subjects met the SMM indicators, yielding an average SMM rate of 3.4 per 1000 deliveries. The pure transfusion rate was 2.33%. The overall SMM rate including transfusion reached 26.7 per thousand deliveries. The trend of SMM including and excluding transfusion demonstrated significantly increasing. Extreme maternal age and cesarean delivery were two main maternal associated factors for SMM.
Conclusion
Our findings demonstrated the steadily increasing trend of SMM in the past decade from nationwide study in Taiwan. The sharply growing rates of blood transfusion made the prevention of obstetric hemorrhage imperative. Health policies should be focused on the encourage of early childbearing and avoidance of unnecessary cesarean delivery to reduce the maternal risks associated with SMM. Continuous surveillance of SMM is required to improve obstetric care and reduce severe maternal complications.
{"title":"The trend and factors associated with severe maternal morbidity among delivery and postpartum hospitalizations in Taiwan: A nationwide study, 2011–2021","authors":"","doi":"10.1016/j.tjog.2024.03.024","DOIUrl":"10.1016/j.tjog.2024.03.024","url":null,"abstract":"<div><h3>Objective</h3><div>To investigate the prevalence and longitudinal trend of severe maternal morbidity (SMM) at nationwide level in Taiwan. The associated maternal factors contributing to SMM were also analyzed.</div></div><div><h3>Materials and methods</h3><div>A population-based secondary analysis using administrative datasets released by Ministry of Health and Welfare of Taiwan from 2011 to 2021 was carried out. SMM was defined from ICD-9 or10-CM diagnosis and procedure codes previously released by CDC. The existence of any SMM indicators identified by delivery and postpartum hospitalizations between≧20 weeks of gestational age and within 42 days after childbirth was retrieved for analysis. Kendall Tau-b correlation was applied for trend test. Logistic regression was used to investigate the associated maternal factors for SMM. All the data were analyzed using SAS statistical software version 9.4. Statistical significance was defined as P value < 0.05.</div></div><div><h3>Results</h3><div>A total of 2,054,010 delivery hospitalization records were identified during the study period. 6961 subjects met the SMM indicators, yielding an average SMM rate of 3.4 per 1000 deliveries. The pure transfusion rate was 2.33%. The overall SMM rate including transfusion reached 26.7 per thousand deliveries. The trend of SMM including and excluding transfusion demonstrated significantly increasing. Extreme maternal age and cesarean delivery were two main maternal associated factors for SMM.</div></div><div><h3>Conclusion</h3><div>Our findings demonstrated the steadily increasing trend of SMM in the past decade from nationwide study in Taiwan. The sharply growing rates of blood transfusion made the prevention of obstetric hemorrhage imperative. Health policies should be focused on the encourage of early childbearing and avoidance of unnecessary cesarean delivery to reduce the maternal risks associated with SMM. Continuous surveillance of SMM is required to improve obstetric care and reduce severe maternal complications.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142540079","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 : 2024-10-29DOI: 10.1016/j.tjog.2024.09.008
Objectives
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease affecting both genders in reproductive age. In this study, we aimed to investigate the relation between FMF and pregnancy on both maternal and fetal aspects.
Material and methods
In this retrospective, single-center, descriptive study we analysed total of 95 pregnancies of 40 FMF patients. Clinical and demographic data were obtained from patients’ records. To prevent recall bias, only the last pregnancy of each patient was evaluated for disease activity and use or revision of medications during pregnancy.
Results
The median age of the patients at diagnosis was 22 and the first pregnancy age was 26 years. The median duration of FMF at last pregnancy was 8 (0–23) years. Eight (20%) patients had at least 1 pregnancy via assisted reproductive techniques (IVF), while 34 (85%) patients had at least 1 spontaneous pregnancy. While 32 patients were in remission (80%) before pregnancy, 8 were clinically active (20%). Improvement in clinical course and attack frequency during pregnancy was observed in 23 patients (57.5%), stable course in 10 (25.0%), and worsening in 7 (17.5%). The rate of live birth was 70.0%, abortus was 28.9%, preterm labor was 8.1%, pre-eclampsia was 5.0%, and only 1 achondroplasia as congenital fetal abnormality was observed.
Conclusion
FMF did not constitute a contraindication for pregnancy. The most important obstetric problems, complications, and negative fetal outcomes in the course of pregnancy are increased IVF requirement, abortion, and cesarean rates. There is no increase in the risk of congenital malformations due to FMF itself or use of colchicine.
{"title":"Retrospective evaluation of obstetric processes in patients with Familial Mediterranean Fever's disease: The three years experience of a tertiary rheumatology clinic","authors":"","doi":"10.1016/j.tjog.2024.09.008","DOIUrl":"10.1016/j.tjog.2024.09.008","url":null,"abstract":"<div><h3>Objectives</h3><div>Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease affecting both genders in reproductive age. In this study, we aimed to investigate the relation between FMF and pregnancy on both maternal and fetal aspects.</div></div><div><h3>Material and methods</h3><div>In this retrospective, single-center, descriptive study we analysed total of 95 pregnancies of 40 FMF patients. Clinical and demographic data were obtained from patients’ records. To prevent recall bias, only the last pregnancy of each patient was evaluated for disease activity and use or revision of medications during pregnancy.</div></div><div><h3>Results</h3><div>The median age of the patients at diagnosis was 22 and the first pregnancy age was 26 years. The median duration of FMF at last pregnancy was 8 (0–23) years. Eight (20%) patients had at least 1 pregnancy via assisted reproductive techniques (IVF), while 34 (85%) patients had at least 1 spontaneous pregnancy. While 32 patients were in remission (80%) before pregnancy, 8 were clinically active (20%). Improvement in clinical course and attack frequency during pregnancy was observed in 23 patients (57.5%), stable course in 10 (25.0%), and worsening in 7 (17.5%). The rate of live birth was 70.0%, abortus was 28.9%, preterm labor was 8.1%, pre-eclampsia was 5.0%, and only 1 achondroplasia as congenital fetal abnormality was observed.</div></div><div><h3>Conclusion</h3><div>FMF did not constitute a contraindication for pregnancy. The most important obstetric problems, complications, and negative fetal outcomes in the course of pregnancy are increased IVF requirement, abortion, and cesarean rates. There is no increase in the risk of congenital malformations due to FMF itself or use of colchicine.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142540084","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 : 2024-10-29DOI: 10.1016/j.tjog.2024.09.004
{"title":"Breakthroughs in women's health for treating vasomotor symptoms","authors":"","doi":"10.1016/j.tjog.2024.09.004","DOIUrl":"10.1016/j.tjog.2024.09.004","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142539911","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 : 2024-10-29DOI: 10.1016/j.tjog.2024.06.012
Objective
Laser vaporization is less invasive than conization for cervical intraepithelial neoplasia (CIN). The outcome of laser vaporization for CIN is empirically known to depend on the colposcopic findings, especially localization of the lesion. In this study, we sought to identify factors involved in the outcome of laser vaporization.
Materials and methods
We retrospectively investigated 290 cases of CIN (CIN2, n = 180; CIN3, n = 110) treated with laser evaporation at Nishikawa Women's Health Clinic between 2018 and 2021. All treatments were performed using a carbon dioxide laser under either colposcopic vision (n = 172) or direct vision using a vaginal speculum (n = 118). Risk factors were statistically examined for cure rate after treatment.
Results
Multivariate analysis using a logistic regression model identified independent factors affecting the success of treatment to be high-risk human papillomavirus infection status preoperatively, CIN grade, presence of CIN lesions at the periphery of the cervix, and the surgical method used. Colposcopy-guided laser vaporization reduced the risk of treatment failure by 84% (odds ratio 0.16, 95% confidence interval 0.06–0.46; p = 0.001) compared with direct vision using a vaginal speculum. For lesions at the periphery of the cervix, most of the treatment failures were in the group that was not guided by colposcopy (p = 0.031).
Conclusion
The presence of a peripheral CIN lesion was suggested to be a risk factor for treatment failure. Laser vaporization under colposcopic vision is recommended for treatment of peripheral CIN lesions.
{"title":"Impact of colposcopy-guided carbon dioxide laser vaporization therapy on peripheral cervical intraepithelial neoplasia lesions","authors":"","doi":"10.1016/j.tjog.2024.06.012","DOIUrl":"10.1016/j.tjog.2024.06.012","url":null,"abstract":"<div><h3>Objective</h3><div>Laser vaporization is less invasive than conization for cervical intraepithelial neoplasia (CIN). The outcome of laser vaporization for CIN is empirically known to depend on the colposcopic findings, especially localization of the lesion. In this study, we sought to identify factors involved in the outcome of laser vaporization.</div></div><div><h3>Materials and methods</h3><div>We retrospectively investigated 290 cases of CIN (CIN2, n = 180; CIN3, n = 110) treated with laser evaporation at Nishikawa Women's Health Clinic between 2018 and 2021. All treatments were performed using a carbon dioxide laser under either colposcopic vision (n = 172) or direct vision using a vaginal speculum (n = 118). Risk factors were statistically examined for cure rate after treatment.</div></div><div><h3>Results</h3><div>Multivariate analysis using a logistic regression model identified independent factors affecting the success of treatment to be high-risk human papillomavirus infection status preoperatively, CIN grade, presence of CIN lesions at the periphery of the cervix, and the surgical method used. Colposcopy-guided laser vaporization reduced the risk of treatment failure by 84% (odds ratio 0.16, 95% confidence interval 0.06–0.46; p = 0.001) compared with direct vision using a vaginal speculum. For lesions at the periphery of the cervix, most of the treatment failures were in the group that was not guided by colposcopy (p = 0.031).</div></div><div><h3>Conclusion</h3><div>The presence of a peripheral CIN lesion was suggested to be a risk factor for treatment failure. Laser vaporization under colposcopic vision is recommended for treatment of peripheral CIN lesions.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142539918","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 : 2024-10-29DOI: 10.1016/j.tjog.2024.09.013
Objective
We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
Case Report
A 36-year-old, primigravid woman underwent amniocentesis at 16 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,XY,+21 [3]/46,XY [17] (15% mosaicism) and simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (21) × 2∼3 (X,Y) × 1, consistent with 24.5% mosaicism for trisomy 21. Cordocentesis performed at 21 weeks of gestation revealed a karyotype of 47,XY,+21 [3]/46,XY [37] (6% mosaicism). She was referred for genetic counseling at 31 weeks of gestation, and continuing the pregnancy was advised. The parental karyotypes and prenatal ultrasound were normal. At 37 weeks of gestation, a phenotypically normal baby was delivered with a body weight of 2900-g. The karyotypes of cord blood, umbilical cord and placenta were 47,XY,+21 [1]/46,XY [39] (2.5% mosaicism), 47,XY,+21 [10]/46,XY [30] (25% mosaicism) and 47,XY,+21 [22]/46,XY [18] (55% mosaicism), respectively. Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on the DNA extracted from umbilical cord and parental bloods excluded uniparental disomy (UPD) 21 and revealed a maternal origin of the extra chromosome 21. When follow-up at the age of 2 months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 47,XY,+21 [1]/46,XY [39] (2.5% mosaicism), and interphase fluorescence in situ hybridization (FISH) analysis on uncultured buccal mucosal cells revealed 4.7% (5/105 cells) mosaicism for trisomy 21, compared with 0% (5/100 cells) in the normal control.
Conclusion
Low-level mosaic trisomy 21 at amniocentesis and cordocentesis can be associated with favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
{"title":"Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line","authors":"","doi":"10.1016/j.tjog.2024.09.013","DOIUrl":"10.1016/j.tjog.2024.09.013","url":null,"abstract":"<div><h3>Objective</h3><div>We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.</div></div><div><h3>Case Report</h3><div>A 36-year-old, primigravid woman underwent amniocentesis at 16 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,XY,+21 [3]/46,XY [17] (15% mosaicism) and simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (21) × 2∼3 (X,Y) × 1, consistent with 24.5% mosaicism for trisomy 21. Cordocentesis performed at 21 weeks of gestation revealed a karyotype of 47,XY,+21 [3]/46,XY [37] (6% mosaicism). She was referred for genetic counseling at 31 weeks of gestation, and continuing the pregnancy was advised. The parental karyotypes and prenatal ultrasound were normal. At 37 weeks of gestation, a phenotypically normal baby was delivered with a body weight of 2900-g. The karyotypes of cord blood, umbilical cord and placenta were 47,XY,+21 [1]/46,XY [39] (2.5% mosaicism), 47,XY,+21 [10]/46,XY [30] (25% mosaicism) and 47,XY,+21 [22]/46,XY [18] (55% mosaicism), respectively. Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on the DNA extracted from umbilical cord and parental bloods excluded uniparental disomy (UPD) 21 and revealed a maternal origin of the extra chromosome 21. When follow-up at the age of 2 months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 47,XY,+21 [1]/46,XY [39] (2.5% mosaicism), and interphase fluorescence <em>in situ</em> hybridization (FISH) analysis on uncultured buccal mucosal cells revealed 4.7% (5/105 cells) mosaicism for trisomy 21, compared with 0% (5/100 cells) in the normal control.</div></div><div><h3>Conclusion</h3><div>Low-level mosaic trisomy 21 at amniocentesis and cordocentesis can be associated with favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142539990","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 : 2024-10-29DOI: 10.1016/j.tjog.2024.09.014
Objective
We present prenatal diagnosis of mosaic trisomy 21 at amniocentesis associated with unbalanced Robertsonian translocation in the fetus and a favorable fetal outcome.
Case Report
A 41-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Her husband was 41 years old. Amniocentesis revealed a karyotype of 46,XX,+21,der(21;21) (q10;q10)[8]/46,XX[18], consistent with 30.8% (8/26 colonies) mosaicism for trisomy 21. 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. Repeat amniocentesis at 21 weeks of gestation revealed a karyotype of 46,XX,+21,der(21;21) (q10;q10)[2]/46,XX[25], consistent with 7.4% (2/27 colonies) mosaicism for trisomy 21. Cord blood sampling revealed the result of 46,XX and rsa X(P095) × 2, 13,18,21(P095) × 2. Prenatal ultrasound findings were normal. At 23 weeks of gestation, she underwent cord blood sampling which revealed a karyotype of 46,XX. At 26 weeks of gestation, she was referred for genetic counseling. No repeat amniocentesis and continuing the pregnancy were advised. The mother had a karyotype of 46,XX, and the father had a karyotype of 46,XY. At 38 weeks of gestation, a 3476-g, phenotypically normal baby was delivered. The cord blood had a karyotype of 46,XX,+21,der(21;21) (q10;q10)[1]/46,XX[39] (2.5% mosaicism). The placenta had a karyotype of 46,XX,+21,der(21;21) (q10;q10) (40/40 cells). When follow-up at age two months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 46,XX (40/40 cells), and aCGH analysis on buccal mucosal cells resulted no genomic imbalance.
Conclusion
Low-level mosaic trisomy 21 at amniocentesis due to mosaic unbalanced Robertsonian translocation with a normal cell line can be associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line.
{"title":"Low-level mosaic trisomy 21 due to mosaic unbalanced Robertsonian translocation of 46,XX,+21,der(21;21) (q10;q10)/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line","authors":"","doi":"10.1016/j.tjog.2024.09.014","DOIUrl":"10.1016/j.tjog.2024.09.014","url":null,"abstract":"<div><h3>Objective</h3><div>We present prenatal diagnosis of mosaic trisomy 21 at amniocentesis associated with unbalanced Robertsonian translocation in the fetus and a favorable fetal outcome.</div></div><div><h3>Case Report</h3><div>A 41-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Her husband was 41 years old. Amniocentesis revealed a karyotype of 46,XX,+21,der(21;21) (q10;q10)[8]/46,XX[18], consistent with 30.8% (8/26 colonies) mosaicism for trisomy 21. 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. Repeat amniocentesis at 21 weeks of gestation revealed a karyotype of 46,XX,+21,der(21;21) (q10;q10)[2]/46,XX[25], consistent with 7.4% (2/27 colonies) mosaicism for trisomy 21. Cord blood sampling revealed the result of 46,XX and rsa X(P095) × 2, 13,18,21(P095) × 2. Prenatal ultrasound findings were normal. At 23 weeks of gestation, she underwent cord blood sampling which revealed a karyotype of 46,XX. At 26 weeks of gestation, she was referred for genetic counseling. No repeat amniocentesis and continuing the pregnancy were advised. The mother had a karyotype of 46,XX, and the father had a karyotype of 46,XY. At 38 weeks of gestation, a 3476-g, phenotypically normal baby was delivered. The cord blood had a karyotype of 46,XX,+21,der(21;21) (q10;q10)[1]/46,XX[39] (2.5% mosaicism). The placenta had a karyotype of 46,XX,+21,der(21;21) (q10;q10) (40/40 cells). When follow-up at age two months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 46,XX (40/40 cells), and aCGH analysis on buccal mucosal cells resulted no genomic imbalance.</div></div><div><h3>Conclusion</h3><div>Low-level mosaic trisomy 21 at amniocentesis due to mosaic unbalanced Robertsonian translocation with a normal cell line can be associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142539991","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}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号