Revista colombiana de obstetricia y ginecologia最新文献

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Colombian consensus for the molecular diagnosis of endometrial cancer 哥伦比亚子宫内膜癌分子诊断共识
Revista colombiana de obstetricia y ginecologia Pub Date : 2024-06-17 DOI: 10.18597/rcog.4060
Marc Edy Pierre, Angélica Viviana Fletcher Prieto, Juliana Rodríguez, Abraham Hernández Blanquisett, Ana Milena Gómez Camacho, Rafael Parra Medina, Lucrecia Mojica Silva, Robinson Fernández, Pedro Hernando Calderón Quiroz
{"title":"Colombian consensus for the molecular diagnosis of endometrial cancer","authors":"Marc Edy Pierre, Angélica Viviana Fletcher Prieto, Juliana Rodríguez, Abraham Hernández Blanquisett, Ana Milena Gómez Camacho, Rafael Parra Medina, Lucrecia Mojica Silva, Robinson Fernández, Pedro Hernando Calderón Quiroz","doi":"10.18597/rcog.4060","DOIUrl":"10.18597/rcog.4060","url":null,"abstract":"<p><p>Objective: The Cancer Genome Atlas research program (TCGA) developed the molecular classification for endometrial cancer with prognostic and therapeutic utility, which was replaced by the ProMisE (Proactive Molecular Risk Classifier for Endometrial Cancer) classification by consensus and international guidelines due to its high cost. This article aims to present national recommendations from an expert consensus that allows unification and implementation of the molecular classification for women with endometrial cancer nationwide, with a rational use of resources and technology.\u0000\u0000Methods: Consensus of 36 experts in clinical oncology, oncological gynecology, pathology, and genetics, with clinical practice in the national territory. The leader group performed a literature review and structuring of questions rated 1 to 9 points. A modified nominal group technique was used. There was a face-to-face meeting with master presentations, deliberative dialogue, and Google Forms (Google LLC, Mountain View, CA, USA) questionnaire voting with analysis and discussion of responses. The non-consensual responses led to a second round of voting. The final manuscript was finally prepared and revised.\u0000\u0000Results: Seven recommendations were formulated integrating the panelist responses based on evidence, but adjusted to the Colombian context and reality.\u0000\u0000Recommendation 1. The molecular classification is recommended in all the endometrial cancers using the immunohistochemistry markers as subrogated results from the molecular profile initially proposed in the TCGA classification.\u0000\u0000Recommendation 2. The sequential test strategy is recommended, starting with the immunohistochemistry markers (p53, MLH1, MSH 2, MSH6, PMS2) simultaneously in all the patients, defining to request POLE (DNA polymerase epsilon) (if available) according to the risk classification based on the surgical piece.\u0000\u0000Recommendation 3. It is recommended, that the gynecologist oncologist should be the one to request the POLE (if available) according to the final pathology report. This test must be requested for all endometrial cancers stage I-II, except in low risk (stage IA low grade endometrioid histology without linfovascular invasion normal p53) and, stages III-IV without residual disease, without affecting the request of subrogated immunohistochemistry molecular markers upon histology.\u0000\u0000The consensus proposes that the POLE is requested after the immunohistochemistry and according to the categories in the risk classification established by the 2020 ESGO/ESTRO/ESP guidelines.\u0000\u0000Recommendation 4. It is recommended to perform immunohistochemistry for hormonal receptors for all women with endometrial cancer and the HER2 in patients with p53abn, simultaneously with the others immunohistochemistry markers.\u0000\u0000Recommendation 5. It is recommended to perform the immunohistochemistry markers (p53, MLH1, MSH2, MSH6 y PMS2) in an initial endometrial biopsy or curettage when the specimen is adequate and availabl","PeriodicalId":101422,"journal":{"name":"Revista colombiana de obstetricia y ginecologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11208073/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141629642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Expert consensus: Profiling and management of advanced or metastatic epithelial ovarian cancer 专家共识:晚期或转移性上皮性卵巢癌的剖析与管理
Revista colombiana de obstetricia y ginecologia Pub Date : 2024-06-14 DOI: 10.18597/rcog.4094
Marc E Pierre, Ray Manneh, Abraham Hernández, Juliana Rodríguez, Angélica V Fletcher, Heydi M Ramírez, Oscar M Niño, Diego A Gómez, Daniel Sanabria, Fernando Contreras, José R Pieschacón, Pedro H Calderón
{"title":"Expert consensus: Profiling and management of advanced or metastatic epithelial ovarian cancer","authors":"Marc E Pierre, Ray Manneh, Abraham Hernández, Juliana Rodríguez, Angélica V Fletcher, Heydi M Ramírez, Oscar M Niño, Diego A Gómez, Daniel Sanabria, Fernando Contreras, José R Pieschacón, Pedro H Calderón","doi":"10.18597/rcog.4094","DOIUrl":"10.18597/rcog.4094","url":null,"abstract":"<p><p>Introduction and objective: The approach to patients with advanced or metastatic high-grade epithelial ovarian cancer (EOC) has evolved over time with the advent of new therapies and multimodal strategies. The objective of this consensus of experts is to generate national recommendations for the profiling and management of advanced or metastatic high-grade OEC, defined as stages III and IV of the “The International Federation of Gynecology and Obstetrics (FIGO) classification at the time of diagnosis to base on the literature review that included international evidence-based clinical practice guidelines (CPG).\u0000\u0000Material and methods: Eleven panelists (oncologists and gynecological oncologists) answered 8 questions about the profiling and management of advanced or metastatic ovarian epithelial carcinoma. The panelists were chosen for their academic profile and\u0000\u0000influence in national health institutions. Guidelines from the “ESMO Standardized Operating Procedures Consensus Conference” were used to develop the consensus. It was agreed that the level of agreement to accept a recommendation should be ≥ 80%. The document was peer reviewed.\u0000\u0000Results: Eight general recommendations are made, which are presented into five domains. Some of these recommendations are subdivided into specific recommendations.\u0000\u0000Initial treatment\u0000\u0000Recommendation 1.1 Complete primary cytoreduction (PCS) surgery is suggested as the initial therapy of choice for patients with high-grade or metastatic EOC, which should ideally be carried out in centers with experience, followed by adjuvant therapy.\u0000\u00001.2 Neoadjuvant chemotherapy followed by interval cytoreduction surgery (ICS) is suggested in those who are unlikely to achieve a complete cytoreduction in PCS either due to unresectable metastatic disease or who present unresectability criteria (imaging, laparoscopic and/or by laparotomy) and that have been defined by a gynecological oncologist and patients with poor functional status and comorbidities according to the criteria of the multidisciplinary team (clinical oncology, gynecological oncology, radiology, etc.).\u0000\u0000Recommendation 2. In patients with high-grade epithelial ovarian cancer (EOC), in stage III locally advanced or metastatic, who received neoadjuvant chemotherapy and achieved a complete or partial response (cytoreduction with tumor residue < 2.5 mm), the use of Hyperthermic IntraPeritoneal Chemotherapy (HIPEC) could be considered as an alternative to standard platinum-based adjuvant intravenous chemotherapy during interval cytoreductive surgery, after discussion in a multidisciplinary tumor board, at a center experienced in treating this type of patients.\u0000\u0000Use of genetic testing.\u0000\u0000Recommendation 3. It is suggested at the time of diagnosis to offer molecular genetic testing to all patients with high-grade advanced or metastatic EOC regardless of family history.\u0000\u0000Recommendation 4. It is suggested to offer genetic counseling, by qualified personnel, to all patients with","PeriodicalId":101422,"journal":{"name":"Revista colombiana de obstetricia y ginecologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11210286/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141629644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comments on the article entitled “Risk factors associated with insulin requirement in patients with gestational diabetes in a referral hospital in Buenos Aires, Argentina: retrospective cohort study” 就题为 "与阿根廷布宜诺斯艾利斯一家转诊医院妊娠糖尿病患者胰岛素需求相关的风险因素:回顾性队列研究 "的文章发表的评论意见
Revista colombiana de obstetricia y ginecologia Pub Date : 2024-05-31 DOI: 10.18597/rcog.4126
Daniela Sofia Infante Paredes, Maria Gracia Consuelo Castro Trujillo, Alfredo Chiappe Gonzales
{"title":"Comments on the article entitled “Risk factors associated with insulin requirement in patients with gestational diabetes in a referral hospital in Buenos Aires, Argentina: retrospective cohort study”","authors":"Daniela Sofia Infante Paredes, Maria Gracia Consuelo Castro Trujillo, Alfredo Chiappe Gonzales","doi":"10.18597/rcog.4126","DOIUrl":"10.18597/rcog.4126","url":null,"abstract":"","PeriodicalId":101422,"journal":{"name":"Revista colombiana de obstetricia y ginecologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11208070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141629643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Preoperative neutrophil/lymphocyte ratio as prognostic factor in epithelial ovarian cancer 作为上皮性卵巢癌预后因素的术前中性粒细胞/淋巴细胞比率
Revista colombiana de obstetricia y ginecologia Pub Date : 2024-03-20 DOI: 10.18597/rcog.4046
Julio Vázquez Rojo, Julio Vázquez Reguera, Angel Sánchez del Río
{"title":"Preoperative neutrophil/lymphocyte ratio as prognostic factor in epithelial ovarian cancer","authors":"Julio Vázquez Rojo, Julio Vázquez Reguera, Angel Sánchez del Río","doi":"10.18597/rcog.4046","DOIUrl":"10.18597/rcog.4046","url":null,"abstract":"<p><strong>Objectives: </strong>To determine if there is an association between the neutrophil to lymphocyte ratio (NLR) and prognosis in patients with epithelial ovarian cancer (EOC) diagnosed and treated in a Spanish population.</p><p><strong>Material and methods: </strong>Retrospective cohort of patients with epithelial ovarian cancer who had neutrophil and lymphocyte values in complete blood count before the histopathological diagnosis and survival of at least three months, in an intermediate complexity hospital. Convenience sampling. Measured variables included age, menopausal stage, parity, International Federation of Gynecology and Obstetrics (FIGO) stage, treatment type, residual tumor, lymph node involvement, presence of ascites, cytology, histologic type, differentiation grade, and CA-125 values. Additionally, outcomes, overall survival, disease/progression-free survival were also measured. Bivariate inferential and Cox regression analyses were performed.</p><p><strong>Results: </strong>Out of 78 candidates, 60 women with EOC were included. Of them, 24 (40%) had a low NLR (≤ 2,9) while 36 (60%) had a high NLR (> 2,9). An association was found between high NLR levels and suboptimal cytoreductive surgery. High NLR ratios were associated with lower overall survival (Hazard ratio (HR): 4.1; 95% CI: 1.4-11.8) and lower 5-year disease-free survival (HR: 2.6; 95% CI: 1.2-5.7).</p><p><strong>Conclusions: </strong>A plasma neutrophil to lymphocyte ratio of more than 2.9 was associated with poor prognosis in patients with epithelial ovarian cancer in our setting. There is a need to establish the optimal cut-off point and conduct prospective studies with larger patient numbers in order to support this information.</p>","PeriodicalId":101422,"journal":{"name":"Revista colombiana de obstetricia y ginecologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11189650/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141629645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Recurrent voluntary termination of pregnancy. Prevalence study and exploration of associated factors. Antioquia, Colombia, 2015 – 2021 [反复自愿终止妊娠。流行率研究及相关因素探讨。2015-2021年,哥伦比亚安蒂奥基亚]。
Revista colombiana de obstetricia y ginecologia Pub Date : 2023-12-30 DOI: 10.18597/rcog.4018
Laura Andrea González-Pérez, Freddy Andrés Barrios Arroyave
{"title":"Recurrent voluntary termination of pregnancy. Prevalence study and exploration of associated factors. Antioquia, Colombia, 2015 – 2021","authors":"Laura Andrea González-Pérez, Freddy Andrés Barrios Arroyave","doi":"10.18597/rcog.4018","DOIUrl":"10.18597/rcog.4018","url":null,"abstract":"<p><strong>Objectives: </strong>To describe the prevalence of recurrent voluntary termination of pregnancy (VTP) and to explore associated factors.</p><p><strong>Materials and methods: </strong>Descriptive, cross-sectional cohort study which included women seen between 2015 and 2021 in five sites of an institution located in the Department of Antioquia which promotes sexual and reproductive health (SRH) care in Colombia. Measured variables included sociodemographics, SRH, recurrent performance of VTP, type of procedure used in the first VTP and contraception method selected afterwards. The prevalence of global and yearly recurrent abortion period is presented. Associated factors were explored using a multivariate analysis. The research committee of the institution approved the study.</p><p><strong>Results: </strong>In total, 20,423 women were included. The prevalence of recurrent VTP was 4.07% (n = 831) during the entire period, ranging between 2.3 and 6% over the 7 years. The most commonly used method for recurrent VTP was pharmacological induction (48.50%). After the first VTP, 69.81% of women used contraceptive methods classified as “very effective” according to the World Health Organization. The risk factors identified as being associated with recurrent VTP included being part of the state-subsidized health insurance system (adjusted odds ratio [aOR] = 1.35; 95 % CI:1.05-1.72) and having had two or more pregnancies (aOR = 1.23; 95% CI: 1.06 - 1.44). Protective factors were identified and included out-of-pocket payment for VTP service (aOR = 0.71; 95% CI: 0.61-0.82), a history of late VTP (aOR = 0.30; 95% CI: 0.11-0.81), and the selection of a subdermal implant for contraception following the first abortion (sOR = 0.64; 95% CI: 0.49 – 0.83).</p><p><strong>Conclusions: </strong>It is possible that the prevalence of recurrent VTP is increasing. Prospective studies are required in order to determine whether there is a growing trend and to verify potential association hypotheses derived from this work.</p>","PeriodicalId":101422,"journal":{"name":"Revista colombiana de obstetricia y ginecologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10911419/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139992276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comments on the article "Monkey pox and female sexual health". 对文章 "猴痘与女性性健康 "的评论。
Revista colombiana de obstetricia y ginecologia Pub Date : 2023-12-30 DOI: 10.18597/rcog.4040
Amnuay Kleebayoon, Viroj Wiwanitkit
{"title":"Comments on the article \"Monkey pox and female sexual health\".","authors":"Amnuay Kleebayoon, Viroj Wiwanitkit","doi":"10.18597/rcog.4040","DOIUrl":"10.18597/rcog.4040","url":null,"abstract":"<p><p>n/a.</p>","PeriodicalId":101422,"journal":{"name":"Revista colombiana de obstetricia y ginecologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10911415/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139992277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reply to: "Comments on the article "Monkey pox and female sexual health"". 答复"对《猴痘与女性性健康》一文的评论"。
Revista colombiana de obstetricia y ginecologia Pub Date : 2023-12-30 DOI: 10.18597/rcog.4149
Angela María Álvarez, Sandra María Vélez-Cuervo, Walter Darío Cardona-Maya
{"title":"Reply to: \"Comments on the article \"Monkey pox and female sexual health\"\".","authors":"Angela María Álvarez, Sandra María Vélez-Cuervo, Walter Darío Cardona-Maya","doi":"10.18597/rcog.4149","DOIUrl":"10.18597/rcog.4149","url":null,"abstract":"","PeriodicalId":101422,"journal":{"name":"Revista colombiana de obstetricia y ginecologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10911414/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139992278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Guidelines on Gestational and Congenital Syphilis: insights of health professionals in Bolívar (Colombia) Guía de Sífilis Gestacional y Congénita: perspectivas de profesionales de la salud en Bolívar (Colombia) [妊娠和先天性梅毒指南:哥伦比亚玻利瓦尔卫生专业人员的观点]。
Revista colombiana de obstetricia y ginecologia Pub Date : 2023-12-30 DOI: 10.18597/rcog.4012
Soraya Patricia Salas-Romero, Zorayda Barrios-Puerta, Kendy Paola Madero-Zambrano, Ana María Bello-Trujillo
{"title":"Guidelines on Gestational and Congenital Syphilis: insights of health professionals in Bolívar (Colombia)","authors":"Soraya Patricia Salas-Romero, Zorayda Barrios-Puerta, Kendy Paola Madero-Zambrano, Ana María Bello-Trujillo","doi":"10.18597/rcog.4012","DOIUrl":"10.18597/rcog.4012","url":null,"abstract":"<p><strong>Objectives: </strong>To describe the knowledge, appropriateness and practices regarding the evidence-based “Clinical Practice Guidelines (CPG) for the comprehensive management of gestational syphilis (GS) and congenital syphilis (CS)”.</p><p><strong>Material and methods: </strong>A descriptive, cross-sectional study including general practitioners, specialists and nurses working at 52 healthcare institutions in the Bolivar Department (Colombia) who provided prenatal control or neonatal care in 2020. Convenience sampling was used. A digital questionnaire was administered to collect sociodemographic information, assessed knowledge, appropriateness and practices in terms of the evidenced-based “Clinical Practice Guidelines (CPG)\" mentioned in the objectives. A descriptive analysis followed.</p><p><strong>Results: </strong>A total of 101 workers were included. There are deficiencies associated with the correct use of the inverse algorithm of diagnosis (48 %) and GS followup (77 %), management of the patient with a history of systemic manifestation allergies (31 %) and treatment of GS (61 %) and CS (10 %). The recommendation of not using the penicillin test in patients with no history of systemic allergies is considered of little benefit (60 %). 23 % of the workers do not use rapid tests and 44 % of the specialists administer syphilis treatment to the sexual partner.</p><p><strong>Conclusions: </strong>It is important to intensify the training strategies for health personnel with emphasis on nurses and, as a matter of urgency, empower them in syphilis control activities. New and continuous national and regional evaluations of the implementation of these guidelines are needed to assess the indicators associated with the strategy for the elimination of this disease.</p>","PeriodicalId":101422,"journal":{"name":"Revista colombiana de obstetricia y ginecologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10911418/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139992275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of the implementation of the Clinical Practice Guidelines. A pending assignment in Colombia [评估《临床实践指南》的实施情况。哥伦比亚有待完成的任务]。
Revista colombiana de obstetricia y ginecologia Pub Date : 2023-12-30 DOI: 10.18597/rcog.4179
Hernando Gaitán-Duarte
{"title":"Evaluation of the implementation of the Clinical Practice Guidelines. A pending assignment in Colombia","authors":"Hernando Gaitán-Duarte","doi":"10.18597/rcog.4179","DOIUrl":"10.18597/rcog.4179","url":null,"abstract":"<p><p>.</p>","PeriodicalId":101422,"journal":{"name":"Revista colombiana de obstetricia y ginecologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10911417/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139992273","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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 Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report [通过超声波和遗传学研究进行产前诊断、弗里曼-谢尔顿综合征。病例报告]。
Revista colombiana de obstetricia y ginecologia Pub Date : 2023-12-30 DOI: 10.18597/rcog.4019
Walter Annicchiarico-López, Leidy Ximena Peña-Pardo, Jezid Enrique Miranda-Quintero
{"title":"Prenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report","authors":"Walter Annicchiarico-López, Leidy Ximena Peña-Pardo, Jezid Enrique Miranda-Quintero","doi":"10.18597/rcog.4019","DOIUrl":"10.18597/rcog.4019","url":null,"abstract":"<p><strong>Objectives: </strong>To describe a case of prenatal diagnosis of Freeman-Sheldon syndrome based on ultrasound findings and complete fetal exome sequencing.</p><p><strong>Materials and methods: </strong>A 33-year-old patient currently on treatment for hypothyroidism in whom a 19-week detailed anatomical ultrasound scan showed fetal deformities in more than two body areas (upper and lower limbs), suggesting a diagnosis of arthrogryposis. Genetic counseling was provided and amniocentesis was performed at 20 weeks for fluorescence in situ hybridization (FISH) analysis and complete fetal exome sequencing, with the latter allowing the identification of a heterozygous pathogenic variant of the MYH3 gene which is associated with type 2A distal arthrogryposis.</p><p><strong>Conclusions: </strong>Complete fetal exome sequencing was a key factor in identifying the MYH3 gene mutation and confirmed that the deformities seen on ultrasound were associated with type 2A distal arthrogryposis. It is important to perform complete fetal exome sequencing in cases of joint malformations seen on prenatal ultrasound.</p>","PeriodicalId":101422,"journal":{"name":"Revista colombiana de obstetricia y ginecologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10911420/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139992272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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