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":"Hung-Ting Chang , Shin-Yin Huang , Ming-Chao Huang","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":"63 6","pages":"Pages 941-943"},"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
Chih-Ping Chen
{"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":"Chih-Ping Chen","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":"63 6","pages":"Pages 955-957"},"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
Chih-Ping Chen
{"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":"Chih-Ping Chen","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":"63 6","pages":"Pages 958-960"},"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
Wen-Chu Huang , Chi-Chen Chen , Shou-Hsia Cheng
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":"Wen-Chu Huang , Chi-Chen Chen , Shou-Hsia Cheng","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":"63 6","pages":"Pages 867-873"},"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
Rabia Deniz , Ferdanur Deniz , Şevket Ali Ekmen , Duygu Sevinç-Özgür , Gamze Akkuzu , Bilgin Karaalioğlu , Fatih Yıldırım , Burak İnce , Kübra Kalkan , Gül Güzelant Özköse , Cemal Bes
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":"Rabia Deniz , Ferdanur Deniz , Şevket Ali Ekmen , Duygu Sevinç-Özgür , Gamze Akkuzu , Bilgin Karaalioğlu , Fatih Yıldırım , Burak İnce , Kübra Kalkan , Gül Güzelant Özköse , Cemal Bes","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":"63 6","pages":"Pages 900-903"},"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.2024.09.005
Peng-Hui Wang, Chia-Hao Liu, Szu-Ting Yang
{"title":"Antibody–drug conjugates (ADCs) may be a big breakthrough in gynecologic cancer treatment (I)","authors":"Peng-Hui Wang, Chia-Hao Liu, Szu-Ting Yang","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":"63 6","pages":"Pages 817-819"},"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.2024.01.038
Chia-Chen Lee , Chie-Pein Chen , Chen-Yu Chen , Liang-Kai Wang , Yi-Yung Chen
Objective
Identify risk factors for development of preeclampsia refractory to aspirin prophylaxis in women at high-risk of preeclampsia.
Material and methods
A retrospective cohort study analyzed 206 women identified as high-risk for preeclampsia through first-trimester screening and prescribed aspirin prophylaxis. We compared maternal characteristics, medical history, biochemical markers, and uterine artery Doppler indices between those with and without preeclampsia.
Results
Women with preeclampsia had significantly higher rates of chronic hypertension (54.3% vs. 8.2%), higher first-trimester mean arterial pressure (MAP, 109.6 vs. 95.4 mmHg), and higher body mass index (BMI, 27.6 vs. 24.9) compared to controls. Second-trimester MAP and mean uterine artery pulsatility index (UtA-PI) were also significantly elevated in the preeclampsia group (103.3 mmHg and 1.39, respectively) compared to controls (89.7 mmHg and 1.05). ROC curve analysis identified an optimal second trimester UtA-PI cut-off of 1.36 for predicting preeclampsia, with sensitivity of 49% and specificity of 87.1%. When using a cut-off value of 0.77 for the second-to-first trimester UtA-PI ratio, the sensitivity and specificity were 60% and 90.6%, respectively.
Conclusion
Chronic hypertension, high first and second trimester MAP, higher BMI, and elevated second trimester UtA-PI are associated with preeclampsia despite aspirin prophylaxis. Evaluating second trimester UtA-PI or the ratio of second to first trimester UtA-PI may be a promising tool for identifying women who do not respond to aspirin.
{"title":"Clinical and sonographic risk factors for developing pre-eclampsia refractory to aspirin prophylaxis","authors":"Chia-Chen Lee , Chie-Pein Chen , Chen-Yu Chen , Liang-Kai Wang , Yi-Yung Chen","doi":"10.1016/j.tjog.2024.01.038","DOIUrl":"10.1016/j.tjog.2024.01.038","url":null,"abstract":"<div><h3>Objective</h3><div>Identify risk factors for development of preeclampsia refractory to aspirin prophylaxis in women at high-risk of preeclampsia.</div></div><div><h3>Material and methods</h3><div>A retrospective cohort study analyzed 206 women identified as high-risk for preeclampsia through first-trimester screening and prescribed aspirin prophylaxis. We compared maternal characteristics, medical history, biochemical markers, and uterine artery Doppler indices between those with and without preeclampsia.</div></div><div><h3>Results</h3><div>Women with preeclampsia had significantly higher rates of chronic hypertension (54.3% vs. 8.2%), higher first-trimester mean arterial pressure (MAP, 109.6 vs. 95.4 mmHg), and higher body mass index (BMI, 27.6 vs. 24.9) compared to controls. Second-trimester MAP and mean uterine artery pulsatility index (UtA-PI) were also significantly elevated in the preeclampsia group (103.3 mmHg and 1.39, respectively) compared to controls (89.7 mmHg and 1.05). ROC curve analysis identified an optimal second trimester UtA-PI cut-off of 1.36 for predicting preeclampsia, with sensitivity of 49% and specificity of 87.1%. When using a cut-off value of 0.77 for the second-to-first trimester UtA-PI ratio, the sensitivity and specificity were 60% and 90.6%, respectively.</div></div><div><h3>Conclusion</h3><div>Chronic hypertension, high first and second trimester MAP, higher BMI, and elevated second trimester UtA-PI are associated with preeclampsia despite aspirin prophylaxis. Evaluating second trimester UtA-PI or the ratio of second to first trimester UtA-PI may be a promising tool for identifying women who do not respond to aspirin.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"63 6","pages":"Pages 874-879"},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142540080","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.2024.06.013
Yi-Yun Tai , Chih-Ling Chen , Chen-Tu Wu , Chien-Nan Lee , Shin-Yu Lin
Objective
Kleefstra Syndrome (KS) is a rare genetic disorder caused by a deletion at 9q34.3. Studies showed that various heart defects are observed in 41–43% of patients and abnormal features on brain imaging in 58–63%. To date, the prenatal phenotype in KS has yet to be defined.
Case report
We present the first prenatal diagnosis and chromosomal microarray analysis (CMA) of a case of 9q34.3 microdeletion in a fetus with increased amniotic fluid, supported by abnormal prenatal ultrasound findings, and confirmed via autopsy. CMA revealed a 2.1 Mb 9q34.3 microdeletion encompassing an OMIM gene of EHMT1, which is consistent with the diagnosis of Kleefstra syndrome and 9q subtelomeric deletion syndrome.
Conclusion
When a fetus with normal karyotype presents with polyhydramnios or abnormalities noted during second-trimester prenatal ultrasound screening, CMA analysis can be considered as the next step to rule out or confirm the diagnosis of chromosomal or other genetic aberrations.
{"title":"Prenatal diagnosis of 9q34.3 microdeletion-associated Kleefstra syndrome in a pregnancy complicated by polyhydramnios: A case report and literature review","authors":"Yi-Yun Tai , Chih-Ling Chen , Chen-Tu Wu , Chien-Nan Lee , Shin-Yu Lin","doi":"10.1016/j.tjog.2024.06.013","DOIUrl":"10.1016/j.tjog.2024.06.013","url":null,"abstract":"<div><h3>Objective</h3><div>Kleefstra Syndrome (KS) is a rare genetic disorder caused by a deletion at 9q34.3. Studies showed that various heart defects are observed in 41–43% of patients and abnormal features on brain imaging in 58–63%. To date, the prenatal phenotype in KS has yet to be defined.</div></div><div><h3>Case report</h3><div>We present the first prenatal diagnosis and chromosomal microarray analysis (CMA) of a case of 9q34.3 microdeletion in a fetus with increased amniotic fluid, supported by abnormal prenatal ultrasound findings, and confirmed via autopsy. CMA revealed a 2.1 Mb 9q34.3 microdeletion encompassing an OMIM gene of EHMT1, which is consistent with the diagnosis of Kleefstra syndrome and 9q subtelomeric deletion syndrome.</div></div><div><h3>Conclusion</h3><div>When a fetus with normal karyotype presents with polyhydramnios or abnormalities noted during second-trimester prenatal ultrasound screening, CMA analysis can be considered as the next step to rule out or confirm the diagnosis of chromosomal or other genetic aberrations.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"63 6","pages":"Pages 948-952"},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142540081","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.2024.09.009
Chih-Ping Chen , Shun-Long Weng , Fang-Tzu Wu , Peih-Shan Wu , Yen-Ting Pan , Wen-Lin Chen , Chien-Wen Yang , Wayseen Wang
Objective
We present first-trimester application of expanded non-invasive prenatal testing (NIPT) in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat.
Case report
A 37-year-old, gravida 2, para 0, woman underwent expanded NIPT at 13 weeks of gestation because of advanced maternal age and the fear of complications of invasive procedures of prenatal diagnosis. She had experienced one spontaneous abortion. The pregnancy was conceived by in vitro fertilization and embryo transfer (IVF-ET) because of tubal occlusion. NIPT was positive for 1p36 deletion. At 17 weeks of gestation, she underwent amniocentesis but intrauterine fetal death occurred after amniocentesis and the pregnancy was terminated. Amniocentesis revealed a derivative chromosome 1 with an aberrant short arm terminal segment of chromosome 1. Subsequent cytogenetic analysis of parental bloods showed a karyotype of 46,XY in the father and a karyotype of 46,XX,t(1;2) (p36.2;q37.3) in the mother. The karyotype of amniocytes was 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat, consistent with partial monosomy 1p (1p36.2→pter) and partial trisomy 2q (2q37.3→qter). Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes revealed the result of arr 1p36.33p36.22 (852,863–11,303,452) × 1.0 and arr 2q37.3 (242,785,405–243,068,396) × 3.0 [GRCh 37] with a 10.451-Mb deletion of 1p36.33-p36.22 encompassing 116 OMIM genes including RERE and a 283-kb duplication of 2q37.3 encompassing one OMIM gene of PDCD1.
Conclusion
Expanded NIPT has the advantage of early detection of familial unbalanced reciprocal translocation in the fetus.
{"title":"First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat","authors":"Chih-Ping Chen , Shun-Long Weng , Fang-Tzu Wu , Peih-Shan Wu , Yen-Ting Pan , Wen-Lin Chen , Chien-Wen Yang , Wayseen Wang","doi":"10.1016/j.tjog.2024.09.009","DOIUrl":"10.1016/j.tjog.2024.09.009","url":null,"abstract":"<div><h3>Objective</h3><div>We present first-trimester application of expanded non-invasive prenatal testing (NIPT) in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat.</div></div><div><h3>Case report</h3><div>A 37-year-old, gravida 2, para 0, woman underwent expanded NIPT at 13 weeks of gestation because of advanced maternal age and the fear of complications of invasive procedures of prenatal diagnosis. She had experienced one spontaneous abortion. The pregnancy was conceived by <em>in vitro</em> fertilization and embryo transfer (IVF-ET) because of tubal occlusion. NIPT was positive for 1p36 deletion. At 17 weeks of gestation, she underwent amniocentesis but intrauterine fetal death occurred after amniocentesis and the pregnancy was terminated. Amniocentesis revealed a derivative chromosome 1 with an aberrant short arm terminal segment of chromosome 1. Subsequent cytogenetic analysis of parental bloods showed a karyotype of 46,XY in the father and a karyotype of 46,XX,t(1;2) (p36.2;q37.3) in the mother. The karyotype of amniocytes was 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat, consistent with partial monosomy 1p (1p36.2→pter) and partial trisomy 2q (2q37.3→qter). Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes revealed the result of arr 1p36.33p36.22 (852,863–11,303,452) × 1.0 and arr 2q37.3 (242,785,405–243,068,396) × 3.0 [GRCh 37] with a 10.451-Mb deletion of 1p36.33-p36.22 encompassing 116 OMIM genes including <em>RERE</em> and a 283-kb duplication of 2q37.3 encompassing one OMIM gene of <em>PDCD1</em>.</div></div><div><h3>Conclusion</h3><div>Expanded NIPT has the advantage of early detection of familial unbalanced reciprocal translocation in the fetus.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"63 6","pages":"Pages 909-912"},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142540086","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
Peng-Hui Wang, Wen-Ling Lee
{"title":"Breakthroughs in women's health for treating vasomotor symptoms","authors":"Peng-Hui Wang, Wen-Ling Lee","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":"63 6","pages":"Pages 814-816"},"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}
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