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Acute left frank pain: An initial encounter of a rare renal artery aneurysm in the third trimester of gestation
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.tjog.2024.11.008
Lan-Shin Jhang , Ding-Wen Chen , Chih-Wei Chien , An-Shine Chao
{"title":"Acute left frank pain: An initial encounter of a rare renal artery aneurysm in the third trimester of gestation","authors":"Lan-Shin Jhang , Ding-Wen Chen , Chih-Wei Chien , An-Shine Chao","doi":"10.1016/j.tjog.2024.11.008","DOIUrl":"10.1016/j.tjog.2024.11.008","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 396-397"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549051","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}
引用次数: 0
Application of 2023 FIGO staging system for 2019 FIGO stage I endometrial cancer
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.tjog.2024.12.003
Peng-Hui Wang, Tricia Dewi Anggraeni, Tofan Widya Utami
{"title":"Application of 2023 FIGO staging system for 2019 FIGO stage I endometrial cancer","authors":"Peng-Hui Wang, Tricia Dewi Anggraeni, Tofan Widya Utami","doi":"10.1016/j.tjog.2024.12.003","DOIUrl":"10.1016/j.tjog.2024.12.003","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 210-212"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549073","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}
引用次数: 0
Difficulty in genetic counseling of prenatally detected de novo 17q12 microdeletion encompassing HNF1B and LHX1 in a fetus with no abnormality on fetal ultrasound
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.tjog.2024.12.021
Chih-Ping Chen
{"title":"Difficulty in genetic counseling of prenatally detected de novo 17q12 microdeletion encompassing HNF1B and LHX1 in a fetus with no abnormality on fetal ultrasound","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2024.12.021","DOIUrl":"10.1016/j.tjog.2024.12.021","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 385-386"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548611","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}
引用次数: 0
Incidences and risk factors of postoperative urinary retention after mid-urethral sling placement with and without pelvic reconstructive surgery
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.tjog.2024.12.007
Mou-Jong Sun , Ryan Sun , Yu-Jun Chang , Li-Ju Chen , Zhu Wei Lim

Objective

Postoperative urinary retention (POUR) is a common consequence of urogynecologic surgery. In this study, we retrospectively assessed the rate of POUR and identified risk factors for the development of urinary retention after mid-urethral sling placement with and without pelvic reconstructive surgery.

Materials and methods

Eight hundred and sixty-six women with urodynamic stress incontinence who underwent transobturator (TOT) and single-incision sling (SIS) placement, with or without a concomitant reconstructive procedure, were included in this study. Postoperative evaluations from the study were reviewed both subjectively and objectively, including voiding volume and bladder scan prior to discharge, cough stress test, uroflowmetry, changes in urodynamic parameters, and the Urogenital Distress Inventory six-item questionnaire at 3 months after surgery.

Results

A total of 866 patients were included, of which 686 patients had no POUR (79.2 %), 158 had transient POUR (18.3 %), and 22 had prolonged POUR (2.5 %). No patients with prolonged POUR required a Foley catheter 2 weeks after discharge. Prior pelvic reconstruction surgery, concomitant hysterectomy, older age, and higher postvoid residual volume were associated with POUR (p < 0.05). Incidences of POUR were not significantly different between patients with and without concomitant pelvic reconstructive surgery. However, patients with SIS had a higher incidence of POUR than those with TOT (p < 0.05). Total objective cure rate of urodynamic stress incontinence was 91.7 %. Patients with prolonged POUR had a significantly lower cure rate, whereas those with transient POUR had the highest cure rate (p = 0.013). Multiple logistic regression analysis revealed that old age, previous hysterectomy, MUCP <30 cmH2O, and SIS were the risk factors for POUR.

Conclusions

POUR was common after mid-urethral sling placement with or without pelvic reconstructive surgery; however, most cases were mild, transient and resolved spontaneously. Clinicians should be aware of the risk factors for POUR and strive for adequate prevention and management.
{"title":"Incidences and risk factors of postoperative urinary retention after mid-urethral sling placement with and without pelvic reconstructive surgery","authors":"Mou-Jong Sun ,&nbsp;Ryan Sun ,&nbsp;Yu-Jun Chang ,&nbsp;Li-Ju Chen ,&nbsp;Zhu Wei Lim","doi":"10.1016/j.tjog.2024.12.007","DOIUrl":"10.1016/j.tjog.2024.12.007","url":null,"abstract":"<div><h3>Objective</h3><div>Postoperative urinary retention (POUR) is a common consequence of urogynecologic surgery. In this study, we retrospectively assessed the rate of POUR and identified risk factors for the development of urinary retention after mid-urethral sling placement with and without pelvic reconstructive surgery.</div></div><div><h3>Materials and methods</h3><div>Eight hundred and sixty-six women with urodynamic stress incontinence who underwent transobturator (TOT) and single-incision sling (SIS) placement, with or without a concomitant reconstructive procedure, were included in this study. Postoperative evaluations from the study were reviewed both subjectively and objectively, including voiding volume and bladder scan prior to discharge, cough stress test, uroflowmetry, changes in urodynamic parameters, and the Urogenital Distress Inventory six-item questionnaire at 3 months after surgery.</div></div><div><h3>Results</h3><div>A total of 866 patients were included, of which 686 patients had no POUR (79.2 %), 158 had transient POUR (18.3 %), and 22 had prolonged POUR (2.5 %). No patients with prolonged POUR required a Foley catheter 2 weeks after discharge. Prior pelvic reconstruction surgery, concomitant hysterectomy, older age, and higher postvoid residual volume were associated with POUR (p &lt; 0.05). Incidences of POUR were not significantly different between patients with and without concomitant pelvic reconstructive surgery. However, patients with SIS had a higher incidence of POUR than those with TOT (p &lt; 0.05). Total objective cure rate of urodynamic stress incontinence was 91.7 %. Patients with prolonged POUR had a significantly lower cure rate, whereas those with transient POUR had the highest cure rate (p = 0.013). Multiple logistic regression analysis revealed that old age, previous hysterectomy, MUCP &lt;30 cmH2O, and SIS were the risk factors for POUR.</div></div><div><h3>Conclusions</h3><div>POUR was common after mid-urethral sling placement with or without pelvic reconstructive surgery; however, most cases were mild, transient and resolved spontaneously. Clinicians should be aware of the risk factors for POUR and strive for adequate prevention and management.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 287-292"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548913","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}
引用次数: 0
Instruction for Authors
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-01 DOI: 10.1016/S1028-4559(25)00066-X
{"title":"Instruction for Authors","authors":"","doi":"10.1016/S1028-4559(25)00066-X","DOIUrl":"10.1016/S1028-4559(25)00066-X","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages E1-E7"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549052","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}
引用次数: 0
Bilateral massive bloody pleural effusions as a rare presentation of ovarian hyperstimulation syndrome: A case report and literature review
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.tjog.2024.03.030
Jen-Chi Hsu , Kun-Long Huang , Ni-Chin Tsai

Objective

Pulmonary complications related to ovarian hyperstimulation syndrome (OHSS) can occur following assisted reproductive technologies (ART). However, bloody pleural effusions are exceedingly rare. We present a case of a patient who underwent ART treatment and developed OHSS, subsequently experiencing bilateral massive bloody pleural effusion.

Case Report

A 32-year-old woman with primary infertility underwent in vitro fertilization (IVF) treatment. After oocyte retrieval, she presented to the emergency department with a chief complaint of abdominal distention and chest pain. Ovarian hyperstimulation syndrome, complicated by bilateral massive bloody pleural effusion (exudative), was diagnosed. Her d-dimer was initially elevated, then decreased gradually, and her shortness of breath improved. The patient was discharged without any clinical sequelae.

Conclusion

OHSS can lead to life-threatening complications such as pleural effusion and, in rare cases, bloody pleural effusion. Following oocyte retrieval, an elevated d-dimer level has no specific diagnostic role and should only be used to rule out thromboembolic events.
{"title":"Bilateral massive bloody pleural effusions as a rare presentation of ovarian hyperstimulation syndrome: A case report and literature review","authors":"Jen-Chi Hsu ,&nbsp;Kun-Long Huang ,&nbsp;Ni-Chin Tsai","doi":"10.1016/j.tjog.2024.03.030","DOIUrl":"10.1016/j.tjog.2024.03.030","url":null,"abstract":"<div><h3>Objective</h3><div>Pulmonary complications related to ovarian hyperstimulation syndrome (OHSS) can occur following assisted reproductive technologies (ART). However, bloody pleural effusions are exceedingly rare. We present a case of a patient who underwent ART treatment and developed OHSS, subsequently experiencing bilateral massive bloody pleural effusion.</div></div><div><h3>Case Report</h3><div>A 32-year-old woman with primary infertility underwent in vitro fertilization (IVF) treatment. After oocyte retrieval, she presented to the emergency department with a chief complaint of abdominal distention and chest pain. Ovarian hyperstimulation syndrome, complicated by bilateral massive bloody pleural effusion (exudative), was diagnosed. Her d-dimer was initially elevated, then decreased gradually, and her shortness of breath improved. The patient was discharged without any clinical sequelae.</div></div><div><h3>Conclusion</h3><div>OHSS can lead to life-threatening complications such as pleural effusion and, in rare cases, bloody pleural effusion. Following oocyte retrieval, an elevated d-dimer level has no specific diagnostic role and should only be used to rule out thromboembolic events.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 348-352"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549067","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}
引用次数: 0
High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a fetus with a favorable fetal outcome and the karyotype of 46,XX in the neonatal peripheral blood at age 4½ months
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.tjog.2024.12.022
Chih-Ping Chen
{"title":"High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a fetus with a favorable fetal outcome and the karyotype of 46,XX in the neonatal peripheral blood at age 4½ months","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2024.12.022","DOIUrl":"10.1016/j.tjog.2024.12.022","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 387-388"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548339","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}
引用次数: 0
Combined anterior trans-obturator mesh (Surelift-A) and sacrospinous ligament fixation for advanced urogenital prolapse: Surgical and functional outcomes at 1 year
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.tjog.2024.10.016
Tsia-Shu Lo , Aisha Alzabedi , Eyal Rom , Lan-Sin Jhang , Wu-Chiao Hsieh , Fazlin Harun

Objective

To determine the objective and subjective outcomes of a Combined anterior trans-obturator mesh (Surelift-A) and sacrospinous ligament fixation (SSF) for advanced pelvic organ prolapse (POP), along with the evaluation of surgical complications, postoperative impact on quality of life (QoL), and lower urinary tract symptoms.

Methods

Retrospective cohort study in a tertiary center from May 2021–December 2022 included 150 patients with symptomatic anterior or apical POP stage III and IV, who underwent pelvic reconstructive surgery with Surelift-A mesh combined with SSF. All completed a 72-h voiding diary, urodynamic study (UDS), and multiple validated QoL questionnaires at baseline, 6 and 12 months postoperatively. Primary outcomes were the development of post operative de novo stress urinary incontinence (SUI), objectively via cough stress test and UDS, and subjectively by evaluation of UDI-6, question 3 score >1 and IIQ-7, QoL and surgical complications. Secondary outcomes were the objective cure of POP, defined as anterior and apical prolapse Pelvic Organ Prolapse Quantification System ≤ stage I, and subjective cure based on negative answers to Pelvic Organ Prolapse Distress Inventory 6, quality of life, sexual function, major and minor complications.

Result

At one-year follow-up, the objective cure rate was 96.7 %, whereas the subjective cure rate was 93.3 %, with favorable anatomical outcomes. Significant QoL improvements were observed. Among those without mid-urethral sling (MUS), a (60.0 %) improvement in SUI occurred. De novo SUI emerged in 10.5 % objectively and 12 % subjectively. Mesh exposure rate was 1.3 %.

Conclusion

The Combined Surelift-A and SSF approach shows effective cure rates with minimal complications, and a slight risk of de novo SUI.
{"title":"Combined anterior trans-obturator mesh (Surelift-A) and sacrospinous ligament fixation for advanced urogenital prolapse: Surgical and functional outcomes at 1 year","authors":"Tsia-Shu Lo ,&nbsp;Aisha Alzabedi ,&nbsp;Eyal Rom ,&nbsp;Lan-Sin Jhang ,&nbsp;Wu-Chiao Hsieh ,&nbsp;Fazlin Harun","doi":"10.1016/j.tjog.2024.10.016","DOIUrl":"10.1016/j.tjog.2024.10.016","url":null,"abstract":"<div><h3>Objective</h3><div>To determine the objective and subjective outcomes of a Combined anterior trans-obturator mesh (Surelift-A) and sacrospinous ligament fixation (SSF) for advanced pelvic organ prolapse (POP), along with the evaluation of surgical complications, postoperative impact on quality of life (QoL), and lower urinary tract symptoms.</div></div><div><h3>Methods</h3><div>Retrospective cohort study in a tertiary center from May 2021–December 2022 included 150 patients with symptomatic anterior or apical POP stage III and IV, who underwent pelvic reconstructive surgery with Surelift-A mesh combined with SSF. All completed a 72-h voiding diary, urodynamic study (UDS), and multiple validated QoL questionnaires at baseline, 6 and 12 months postoperatively. Primary outcomes were the development of post operative de novo stress urinary incontinence (SUI), objectively via cough stress test and UDS, and subjectively by evaluation of UDI-6, question 3 score &gt;1 and IIQ-7, QoL and surgical complications. Secondary outcomes were the objective cure of POP, defined as anterior and apical prolapse Pelvic Organ Prolapse Quantification System ≤ stage I, and subjective cure based on negative answers to Pelvic Organ Prolapse Distress Inventory 6, quality of life, sexual function, major and minor complications.</div></div><div><h3>Result</h3><div>At one-year follow-up, the objective cure rate was 96.7 %, whereas the subjective cure rate was 93.3 %, with favorable anatomical outcomes. Significant QoL improvements were observed. Among those without mid-urethral sling (MUS), a (60.0 %) improvement in SUI occurred. De novo SUI emerged in 10.5 % objectively and 12 % subjectively. Mesh exposure rate was 1.3 %.</div></div><div><h3>Conclusion</h3><div>The Combined Surelift-A and SSF approach shows effective cure rates with minimal complications, and a slight risk of de novo SUI.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 279-286"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548912","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}
引用次数: 0
Herlyn Werner Wunderlich syndrome. Case report
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.tjog.2024.10.017
Daniel Alberto Reyes-Martinez , Jairo Sneider Galvis-Pabón , Giselly Mayerly Nieves-Cuervo , Edgar Fabián Manrique-Hernández , Alexandra Hurtado-Ortiz , Maricel Licht-Ardila

Objective

Describe a clinical case of a patient with Herlyn Werner Wunderlich Syndrome in whom an accurate diagnosis was not made during menarche due to failures in her care and poor diagnostic suspicion.

Case Report

Female patient, 21 years old, without medical history, menarche at 12 years of age, with hypermenorrhea and recurrent urinary tract infection. Patient with uterus-dependent mass associated with left renal agenesis, laparotomy was performed with the finding of a didelphic uterus and compensatory hypertrophy of the right kidney, uterine growth with widening of the endometrial cavity and right adnexal septated cyst, absence of left kidney, bicornuate uterus, bicollis, distended vagina and hematocolpos with these findings, clinical genetics considers Herlyn Werner Wunderlich Syndrome.

Conclusion

The late diagnostic suspicion generated multiple complications, mainly at the genitourinary level due to recurrent urinary tract infections that demand costs in the health system and generate antibiotic resistance.
{"title":"Herlyn Werner Wunderlich syndrome. Case report","authors":"Daniel Alberto Reyes-Martinez ,&nbsp;Jairo Sneider Galvis-Pabón ,&nbsp;Giselly Mayerly Nieves-Cuervo ,&nbsp;Edgar Fabián Manrique-Hernández ,&nbsp;Alexandra Hurtado-Ortiz ,&nbsp;Maricel Licht-Ardila","doi":"10.1016/j.tjog.2024.10.017","DOIUrl":"10.1016/j.tjog.2024.10.017","url":null,"abstract":"<div><h3>Objective</h3><div>Describe a clinical case of a patient with Herlyn Werner Wunderlich Syndrome in whom an accurate diagnosis was not made during menarche due to failures in her care and poor diagnostic suspicion.</div></div><div><h3>Case Report</h3><div>Female patient, 21 years old, without medical history, menarche at 12 years of age, with hypermenorrhea and recurrent urinary tract infection. Patient with uterus-dependent mass associated with left renal agenesis, laparotomy was performed with the finding of a didelphic uterus and compensatory hypertrophy of the right kidney, uterine growth with widening of the endometrial cavity and right adnexal septated cyst, absence of left kidney, bicornuate uterus, bicollis, distended vagina and hematocolpos with these findings, clinical genetics considers Herlyn Werner Wunderlich Syndrome.</div></div><div><h3>Conclusion</h3><div>The late diagnostic suspicion generated multiple complications, mainly at the genitourinary level due to recurrent urinary tract infections that demand costs in the health system and generate antibiotic resistance.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 330-333"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549063","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}
引用次数: 0
Prenatal diagnosis of a 5.44-Mb de novo 22q13.31q13.33 deletion encompassing SHANK3 associated with mosaicism for r(22)(p11.2q11.31) and monosomy 22 in a fetus with severe right hydronephrosis and hydroureter on ultrasound and determination of a maternal origin of the deletion and r(22) by quantitative fluorescent polymerase chain reaction
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.tjog.2024.12.011
Chih-Ping Chen , Liang-Kai Wang , Fang-Tzu Wu , Yen-Ting Pan , Peih-Shan Wu , Chen-Wen Pan , Wayseen Wang

Objective

We present prenatal diagnosis of a de novo 22q13.3 deletion in a fetus associated with mosaic r(22) and abnormalities on prenatal ultrasound.

Case Report

A 32-year-old, primigravid woman was referred for amniocentesis at 30 weeks of gestation because of abnormalities on prenatal ultrasound. Prenatal ultrasound at 22 weeks of gestation revealed right hydronephrosis and hydroureter. Amniocentesis revealed a karyotype of 46,XX,r(22) in 21/21 colonies of cultured amniocytes. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr [GRCh37] 22q13.31q13.33 (45,736,280–51,178,264) × 1 with a 5.44-Mb 22q13.31q13.33 deletion encompassing SHANK3. Therefore, the r(22) was r(22)(p11.2q13.31). Level II ultrasound at 30 weeks of gestation revealed severe right hydronephrosis and hydroureter. The pregnancy was subsequently terminated, and a malformed female fetus was delivered with facial dysmorphism. Postnatal aCGH analysis on the DNA extracted from umbilical cord confirmed the prenatal diagnosis of 22q13.3 deletion and r(22), and quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on the DNA extracted from umbilical cord and parental bloods determined a maternal origin of the 22q13.3 deletion. The umbilical cord had a karyotype of 46,XX,r(22)(p11.2q13.31)[34]/45,XX,-22[6]. The parental karyotypes were normal, and the parents did not have such a deletion.

Conclusion

Fetuses with 22q13.3 deletion may present unilateral hydronephrosis and hydroureter on fetal ultrasound.
{"title":"Prenatal diagnosis of a 5.44-Mb de novo 22q13.31q13.33 deletion encompassing SHANK3 associated with mosaicism for r(22)(p11.2q11.31) and monosomy 22 in a fetus with severe right hydronephrosis and hydroureter on ultrasound and determination of a maternal origin of the deletion and r(22) by quantitative fluorescent polymerase chain reaction","authors":"Chih-Ping Chen ,&nbsp;Liang-Kai Wang ,&nbsp;Fang-Tzu Wu ,&nbsp;Yen-Ting Pan ,&nbsp;Peih-Shan Wu ,&nbsp;Chen-Wen Pan ,&nbsp;Wayseen Wang","doi":"10.1016/j.tjog.2024.12.011","DOIUrl":"10.1016/j.tjog.2024.12.011","url":null,"abstract":"<div><h3>Objective</h3><div>We present prenatal diagnosis of a <em>de novo</em> 22q13.3 deletion in a fetus associated with mosaic r(22) and abnormalities on prenatal ultrasound.</div></div><div><h3>Case Report</h3><div>A 32-year-old, primigravid woman was referred for amniocentesis at 30 weeks of gestation because of abnormalities on prenatal ultrasound. Prenatal ultrasound at 22 weeks of gestation revealed right hydronephrosis and hydroureter. Amniocentesis revealed a karyotype of 46,XX,r(22) in 21/21 colonies of cultured amniocytes. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr [GRCh37] 22q13.31q13.33 (45,736,280–51,178,264) × 1 with a 5.44-Mb 22q13.31q13.33 deletion encompassing <em>SHANK3</em>. Therefore, the r(22) was r(22)(p11.2q13.31). Level II ultrasound at 30 weeks of gestation revealed severe right hydronephrosis and hydroureter. The pregnancy was subsequently terminated, and a malformed female fetus was delivered with facial dysmorphism. Postnatal aCGH analysis on the DNA extracted from umbilical cord confirmed the prenatal diagnosis of 22q13.3 deletion and r(22), and quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on the DNA extracted from umbilical cord and parental bloods determined a maternal origin of the 22q13.3 deletion. The umbilical cord had a karyotype of 46,XX,r(22)(p11.2q13.31)[34]/45,XX,-22[6]. The parental karyotypes were normal, and the parents did not have such a deletion.</div></div><div><h3>Conclusion</h3><div>Fetuses with 22q13.3 deletion may present unilateral hydronephrosis and hydroureter on fetal ultrasound.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 2","pages":"Pages 334-338"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549064","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}
引用次数: 0
期刊
Taiwanese Journal of Obstetrics & Gynecology
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