Taiwanese Journal of Obstetrics & Gynecology最新文献

{"title":"Antibody–drug conjugates (ADCs) may be a big breakthrough in gynecologic cancer treatment (II): Anti-HER2/neu","authors":"Peng-Hui Wang, Wei-Ting Chao, Na-Rong Lee","doi":"10.1016/j.tjog.2024.09.006","DOIUrl":"10.1016/j.tjog.2024.09.006","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"63 6","pages":"Pages 820-822"},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142539913","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}

{"title":"Impact of colposcopy-guided carbon dioxide laser vaporization therapy on peripheral cervical intraepithelial neoplasia lesions","authors":"Tasuku Mariya ,&nbsp;Akira Nishikawa ,&nbsp;Mina Umemoto ,&nbsp;Shiori Ogawa ,&nbsp;Tsuyoshi Saito","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":"63 6","pages":"Pages 846-852"},"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}

{"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":"Chih-Ping Chen ,&nbsp;Fang-Tzu Wu ,&nbsp;Yen-Ting Pan ,&nbsp;Meng-Shan Lee ,&nbsp;Wayseen Wang","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":"63 6","pages":"Pages 927-930"},"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}

{"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":"Chih-Ping Chen ,&nbsp;Yi-Yung Chen ,&nbsp;Fang-Tzu Wu ,&nbsp;Yen-Ting Pan ,&nbsp;Chen-Chi Lee ,&nbsp;Wayseen Wang","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":"63 6","pages":"Pages 931-934"},"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}

{"title":"A case of Fitz-Hugh-Curtis syndrome diagnosed by noninvasive metagenomic next-generation sequencing","authors":"Chengcheng Ding ,&nbsp;Run Chen ,&nbsp;Peng Guo ,&nbsp;Juhua Yang ,&nbsp;Mian He","doi":"10.1016/j.tjog.2024.04.020","DOIUrl":"10.1016/j.tjog.2024.04.020","url":null,"abstract":"<div><h3>Objective</h3><div>Fitz-Hugh-Curtis Syndrome (FHCS) is an inflammation of the liver capsule as a complication of pelvic inflammatory disease (PID) in sexually active women, mostly associated with <em>Chlamydia trachomatis</em> (<em>C. trachomatis</em>) and <em>Neisseria gonorrhoeae</em>. Classically presenting as sharp right upper quadrant pain, usually accompanied salpingitis and ascites. With nonspecific clinical presentation and poor specificity, definitive diagnosis needs tissue biopsy and culture by laparoscopy.</div></div><div><h3>Case report</h3><div>We report the case of a 22-year-old female with a 2-month history of abdominal pain and distention. Symptomatic relief when supportive treatments were given, with the ultrasound and PET-CT suggested advanced bilateral ovarian cancer. After metagenomic next-generation sequencing (mNGS) detected <em>C. trachomatis</em> in ascitic fluid. Following anti-infective medication, clinical improvement was satisfactory and the patient was discharged.</div></div><div><h3>Conclusion</h3><div>FHCS with distention was rare and challenging to diagnose. The mNGS would be a potent, non-invasive pathogen detection method with significant sensitivity and specificity.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"63 6","pages":"Pages 935-940"},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142539992","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}

{"title":"Factors associated with insufficient cervical ripening in a controlled-release dinoprostone vaginal delivery system: A single perinatal center retrospective study","authors":"Ayako Takizawa,&nbsp;Youhei Tsunoda,&nbsp;Takashi Matsushima,&nbsp;Shunji Suzuki","doi":"10.1016/j.tjog.2024.05.026","DOIUrl":"10.1016/j.tjog.2024.05.026","url":null,"abstract":"<div><h3>Objective</h3><div>In this study, we aimed to evaluate the factors associated with insufficient cervical ripening in a controlled-release dinoprostone vaginal delivery system (Propess).</div></div><div><h3>Materials and methods</h3><div>This retrospective cohort study included 103 pregnant women who used Propess for labor induction. The outcomes were the factors associated with insufficient cervical ripening, defined as a Bishop score ≤6 on the morning after Propess administration.</div></div><div><h3>Results</h3><div>Forty-nine participants had insufficient cervical ripening, and 54 had sufficient cervical ripening. Univariate analysis of these two groups showed that maternal age ≥35 years, early-term delivery (gestational age between 37 and 38 weeks), and Bishop scores at insertion ≤1 were significantly higher in the insufficient cervical ripening group. Multivariate logistic analysis showed that maternal age ≥35 years (adjusted odds ratio: 3.08, 95% confidence interval: 1.29–7.36, p = 0.011) and early-term delivery (adjusted odds ratio: 3.17, 95% confidence interval: 1.23–8.20, p = 0.017) were independent factors associated with poor Propess efficacy. Parity, pre-pregnancy body mass index, body mass index at delivery, and indications for labor induction were not associated with insufficient cervical ripening.</div></div><div><h3>Conclusions</h3><div>In our study, older maternal age and early-term delivery were independent predictors of insufficient cervical ripening with Propess. More effective delivery management can be achieved by considering induction protocols tailored to individual maternal factors for patients with factors associated with poor Propess efficacy.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"63 6","pages":"Pages 887-891"},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142539921","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}

{"title":"Evaluation of atherogenic indices in patients with endometrioma: A case-control study","authors":"Gamze Yilmaz ,&nbsp;Onur Acar","doi":"10.1016/j.tjog.2024.09.007","DOIUrl":"10.1016/j.tjog.2024.09.007","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate the cardiovascular risk status of patients with endometriosis using serum lipid parameters and atherogenic indices.</div></div><div><h3>Materials and methods</h3><div>The study was retrospective, single-centric, case-control study, involving a total of 190 women, including 95 cases and 95 control groups. Blood parameters, inflammatory markers as serum pan-immune-inflammation value, systemic immune-inflammation index, systemical inflammation-response index, and the atherogenic indices as Atherogenic Index of Plasma (AIP), Castelli Risk Index I and II (CRI-I and II), and the Atherogenic Coefficient (AC) were calculated.</div></div><div><h3>Results</h3><div>Triglyceride (TG) levels among serum lipid parameters (103.09 ± 54.17 vs 77.52 ± 23.37, p &lt; 0.001) and Atherogenic Index of Plasma (AIP) values (0.25 ± 0.24 vs −0.13 ± 0.19, p &lt; 0.001) were significantly higher in endometriosis patients than in the control group. Patients with endometriosis had 2.31 times higher high-risk AIP values (1.23–4.33, p = 0.008).</div></div><div><h3>Conclusion</h3><div>Our study indicates that patients with endometriosis are at a heightened risk for developing a proatherogenic lipid profile and an elevated atherogenic index of plasma (AIP). Given the often delayed diagnosis of endometriosis and the extended period of chronic exposure to the disease, patients should be evaluated for atherosclerotic cardiovascular diseases during clinical follow-ups.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"63 6","pages":"Pages 896-899"},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142539826","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}

{"title":"Human chorionic gonadotropin of pituitary origin in Chinese postmenopausal women: A single-center retrospective study","authors":"Yonghong Tian ,&nbsp;Long Zhang ,&nbsp;Jingping Li ,&nbsp;Huijuan Gao ,&nbsp;Yimin Zhu","doi":"10.1016/j.tjog.2024.06.011","DOIUrl":"10.1016/j.tjog.2024.06.011","url":null,"abstract":"<div><h3>Objective</h3><div>We analyze the characteristics and related factors of human chorionic gonadotropin (hCG) of pituitary origin to establish the reference interval to resolve clinical confusion and avoid harmful therapy to Chinese postmenopausal women with “positive” hCG.</div></div><div><h3>Materials and methods</h3><div>This retrospective cohort study identified individuals who underwent hCG measurements at an academic hospital. Three gonadotropins (hCG, follicle stimulating hormone (FSH), and luteinizing hormone (LH)) was drawn from medical records. The age-stratified analyses were performed first. Then the correlations of hCG and FSH, LH as well as age were analysed. Finally, characteristics and associations of hCG, LH, and FSH were evaluated to identify pituitary hCG in postmenopausal women in clinical settings.</div></div><div><h3>Results</h3><div>In total, 9796 cases from 11172 records met inclusion criteria and contributed 9796 hCG, 7541 FSH, and 7536 LH values. The upper reference interval for our cohorts was 5.3 IU/L. HCG, FSH, and LH concentration had no significant correlations with age. HCG moderately correlated with FSH (<em>r</em> = 0.47) and LH level (<em>r</em> = 0.53). However, it was FSH but not LH that manifested good clinical applicability.</div></div><div><h3>Conclusion</h3><div>The prevalence of hCG≥5.0 IU/L and 5.3 IU/L in women ≥55 years is 2.8% and 2.3% in the study population from China. The level of hCG 5.3 IU/L was suggested to be the positive threshold for postmenopausal women. FSH≥40IU/L helps to distinguish the pituitary source of hCG in postmenopausal women whose serum hCG concentrations were between 5.3 and 16 IU/L.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"63 6","pages":"Pages 841-845"},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142539917","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}

{"title":"Detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 by chromosome microarray analysis in a second-trimester fetus with multiple congenital anomalies and a literature review of chromosome 5q interstitial deletion syndrome","authors":"Chih-Ping Chen ,&nbsp;Jian-Pei Huang ,&nbsp;Fang-Tzu Wu ,&nbsp;Peih-Shan Wu ,&nbsp;Yen-Ting Pan ,&nbsp;Wayseen Wang","doi":"10.1016/j.tjog.2024.09.011","DOIUrl":"10.1016/j.tjog.2024.09.011","url":null,"abstract":"<div><h3>Objective</h3><div>We present application of chromosome microarray analysis (CMA) in the detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 in a second-trimester fetus with multiple congenital anomalies on fetal ultrasound.</div></div><div><h3>Case Report</h3><div>A 30-year-old, gravida 2, para 1, woman was found to have multiple anomalies in the fetus at 14 weeks of gestation by prenatal ultrasound screening. The fetal anomalies included echogenic bowel, a left neck cyst, hypoplastic left heart, single umbilical artery and bilateral clubfeet. The pregnancy was subsequently terminated, and a 64-g malformed fetus was delivered. CMA by array comparative genomic hybridization (aCGH) analysis on the DNA extracted from umbilical cord revealed the result of arr 5q14.3q31.1 (83,557,042–130,841,093) × 1.0 [GRCh37] with a 47.3-Mb 5q14.3-q31.1 deletion encompassing 95 OMIM genes including <em>NR2F1</em>, <em>MEF2C</em>, <em>APC</em>, <em>KCNN2</em> and <em>FBN2</em>. Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on the DNA extracted from parental bloods and umbilical cord using the informative markers of D5S2496 (5q21.3) and D5S818 (5q23.2) showed that the fetus inherited only one maternal allele, indicating a paternal origin of the interstitial 5q deletion in the fetus.</div></div><div><h3>Conclusion</h3><div>CMA is useful for genetic investigation of unknown congenital anomalies detected by fetal ultrasound.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"63 6","pages":"Pages 918-921"},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142540088","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}

{"title":"Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound","authors":"Chih-Ping Chen ,&nbsp;Jian-Pei Huang ,&nbsp;Fang-Tzu Wu ,&nbsp;Peih-Shan Wu ,&nbsp;Yen-Ting Pan ,&nbsp;Chen-Chi Lee ,&nbsp;Wen-Lin Chen ,&nbsp;Wayseen Wang","doi":"10.1016/j.tjog.2024.09.012","DOIUrl":"10.1016/j.tjog.2024.09.012","url":null,"abstract":"<div><h3>Objective</h3><div>We present prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis (CMA) in a fetus with multiple congenital anomalies on fetal ultrasound.</div></div><div><h3>Case Report</h3><div>A 41-year-old, gravida 2, para 1, woman underwent amniocentesis at 25 weeks of gestation because of intrauterine growth restriction, endocardial cushion defect, clenched hands, arthrogryposis, rocker bottom feet and craniosynostosis on fetal ultrasound. Amniocentesis revealed a karyotype of 46,XX,add(11)(q23.3). Array comparative genomic hybridization (aCGH) analysis of the DNA extracted from the uncultured amniocytes revealed the result of arr 8q24.13q24.3 × 3, 11q23.3q25 × 1. Analysis of <em>FGFR2</em> revealed no mutation. The karyotype was 46,XX,der(11)t(8;11)(q24.13;q23.3). The parental karyotypes were normal. The pregnancy was subsequently terminated, and a dead malformed fetus was delivered with craniofacial dysmorphism of low-set malformed ears, depressed nasal bridge, hypertelorism, small mouth, clenched hands and rocker bottom feet. Cytogenetic analysis of the placenta revealed a karyotype of 46,XX,der(11)t(8;11)(q24.13;q23.3). aCGH analysis of the DNA extracted from the umbilical cord showed the result of arr 8q24.13q24.3 (126,302,369–146,280,020) × 3.0, arr 11q23.3q25 (120,469,928–134,868,407) × 1.0 [GRCh37] with a 19.978-Mb duplication of 8q24.13-q24.3 and a 14.398-Mb deletion of 11q23.3-q25 encompassing the genes of <em>BSX</em>, <em>ETS1</em>, <em>FLI1</em> and <em>ARHGAP32</em>.</div></div><div><h3>Conclusion</h3><div>CMA is useful for detection of <em>de novo</em> chromosomal rearrangement in the fetus with multiple congenital anomalies on fetal ultrasound.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"63 6","pages":"Pages 922-926"},"PeriodicalIF":2.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142540089","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}