Annals of Gynecology and Obstetrics最新文献

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Can We Safely Stop Administering Anti-D Immune Globulin to First Trimester Rh-Negative Mothers Undergoing Abortion? A Systematic Review and Meta-Analysis 我们可以安全地停止使用抗d免疫球蛋白对妊娠早期流产rh阴性母亲吗?系统回顾和荟萃分析
Annals of Gynecology and Obstetrics Pub Date : 2021-05-06 DOI: 10.36959/468/477
Tolu Lemi Belay, Tufa Tesfaye H, Abubeker Ferid A, Daba Mekdes, Prager Sarah
{"title":"Can We Safely Stop Administering Anti-D Immune Globulin to First Trimester Rh-Negative Mothers Undergoing Abortion? A Systematic Review and Meta-Analysis","authors":"Tolu Lemi Belay, Tufa Tesfaye H, Abubeker Ferid A, Daba Mekdes, Prager Sarah","doi":"10.36959/468/477","DOIUrl":"https://doi.org/10.36959/468/477","url":null,"abstract":"Introduction: Fetal red blood cells can express the D-antigen as early as 52 days after the last menstrual period. However, there is no convincing evidence for the benefit of using anti-D immune globulin (RhIG) in the first trimester. The aim of the current review is therefore to determine whether administration of RhIG to women undergoing first trimester spontaneous or induced abortions prevents subsequent sensitization. Methods: We searched Medline, Embase.com, Cochrane Central Register of Controlled Trials (CCRCT) via EBM Reviews (Ovid), ClinicalTrials.gov (www.clinicaltrials.gov) and the WHO International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en). Two reviewers performed the study selection, critical appraisal, and data extraction independently. Quality of evidence for major outcomes was assessed using the Grading of Recommendations, Assessment, development, and evaluation (GRADE). Results: Four studies met the inclusion criteria with total of 444 participants. The fixed effect meta-analysis showed that there is 0.41 times less antibody formation in women who received RhIG compared to those who did not receive (OR = 0.41, CI, 0.05-3.66, P-value 0.43). Women who took anti-D were also 0.75 times less likely to be sensitized in subsequent pregnancy compared to women who received RhIG (OR = 0.75, CI 0.07-8.42, P-value 0.82). However, none of the studies reported on Increased fetal surveillance or fetal transfusion in subsequent pregnancy, neonatal morbidity, maternal adverse event and cost of treatment. Conclusions: The evidence of RhIG provision following first trimester abortion to prevent antibody formation and sensitization in a subsequent pregnancy is statistically insignificant and very low quality. The practice of administering RhIG after first trimester abortion is based on expert opinion and largely extrapolated from fetomaternal hemorrhage in late pregnancy. However, the evidence indicates that the fetomataernal hemorrhage in the first trimester is not enough to cause sensitization. Therefore, the recommendation to administer RhIG in the first trimester should depend on effectiveness, resource availability, cost, values, preferences, equity, acceptability and feasibility of RhIG provision.","PeriodicalId":206072,"journal":{"name":"Annals of Gynecology and Obstetrics","volume":"136 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133564576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Quality Improvement Initiative to Decrease Maternal Morbidity in Placenta Accreta Spectrum with a Standardized Approach: A Single Institution Experience 质量改进倡议,以减少产妇发病率的胎盘增生谱与标准化的方法:单一机构的经验
Annals of Gynecology and Obstetrics Pub Date : 2021-01-23 DOI: 10.36959/468/475
Lersten Ivy L, Rodriguez Christina E, Gilroy Jamie R, Fink Dina M, Guntupalli Saketh R
{"title":"A Quality Improvement Initiative to Decrease Maternal Morbidity in Placenta Accreta Spectrum with a Standardized Approach: A Single Institution Experience","authors":"Lersten Ivy L, Rodriguez Christina E, Gilroy Jamie R, Fink Dina M, Guntupalli Saketh R","doi":"10.36959/468/475","DOIUrl":"https://doi.org/10.36959/468/475","url":null,"abstract":"Placenta accreta spectrum (PAS) is a rare, though increasing complication of pregnancy. Prior studies have suggested standardized management to PAS at tertiary centers can improve outcomes. We studied the effect of standardized multidisciplinary care at a single tertiary care center on composite maternal morbidity by reviewing outcomes retrospectively before and after implementation of a standardized treatment protocol. We found no statistical difference in composite outcomes in preand post-implementation groups though there was a lower likelihood of emergent deliveries, smaller amount of blood loss and decreased rate of emergent delivery. A standardized approach to PAS care may lead to improvements in some maternal outcomes. Check for updates netic resonance imaging (MRI) [6,7]. Antenatal diagnosis allows for organization of a team of expert physicians and personnel that are experienced with complex cases, as well as planning for a controlled delivery. The most accepted mode of management is cesarean hysterectomy, although some groups advocate for a conservative approach through uterine preserving surgery, methotrexate therapy, or uterine artery occlusion [8,9]. While increasing in frequency, PAS remains a somewhat rare occurrence for each individual institution. In recent years, studies demonstrated that there are better outcomes when placenta accreta spectrum cases are managed in tertiary care centers with a multidisciplinary approach [10,11]. The center must have the ability to perform accurate prenatal identification of cases as well as be able to perform massive transfusion during a surgery. Additionally, there must be intensive care units for adults and neonates. Our objective was to evaluate the effect of a standardized Citation: Lersten IL, Rodriguez CE, Gilroy JR, et al. (2021) A Quality Improvement Initiative to Decrease Maternal Morbidity in Placenta Accreta Spectrum with a Standardized Approach: A Single Institution Experience. Annals Gynecol Obstet 5(1):105-109 Lersten et al. Annals Gynecol Obstet 2021, 5(1):105-109 Open Access | Page 106 | traoperative team determined they were stable for postpartum floor care. All women who delivered after January 1, 2013 through January 2017 with suspected PAS were in the standardized management arm including women who were transported in urgently without the benefit of an outpatient workup and care conference. All women who delivered between January 1, 2007 and December 31, 2012 were in the historic comparison group. Historically, suspected PAS was managed based on primary general obstetrician attending preference with consultation to gynecologic oncology and other services at their own discretion. Clinical data was collected retrospectively by chart review. The maternal clinical parameters that were extracted included demographic factors, surgical history, ultrasound and MRI imaging characteristics, intraoperative use of ureteral stenting, hypogastric artery balloon placement, type of anesthesi","PeriodicalId":206072,"journal":{"name":"Annals of Gynecology and Obstetrics","volume":"72 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132435302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Laparoscopic Repair of Utero-Peritoneal Fistula; A Fertility Preserving Approach with Subsequent Live Birth 腹腔镜下子宫-腹膜瘘修复术保留生育能力的后续活产方法
Annals of Gynecology and Obstetrics Pub Date : 2020-11-13 DOI: 10.36959/468/473
P. JonesBenjamin, R. Abirami, T. Geoffrey, F. Alan
{"title":"Laparoscopic Repair of Utero-Peritoneal Fistula; A Fertility Preserving Approach with Subsequent Live Birth","authors":"P. JonesBenjamin, R. Abirami, T. Geoffrey, F. Alan","doi":"10.36959/468/473","DOIUrl":"https://doi.org/10.36959/468/473","url":null,"abstract":"Case: A 40-year-old woman presented with secondary infertility after surgical management of miscarriage. A hysterosalpingogram (HSG) and magnetic resonance imaging identified a large Caesarean scar defect with fistulation into the peritoneal cavity. She subsequently underwent laparoscopic repair of the uteroperitoneal fistula. Outcome: A repeat HSG three months post-operatively confirmed successful closure of the fistula. 18 months post-operatively she successfully spontaneously conceived with twins. Despite demise of one twin in early pregnancy, she underwent an uncomplicated Caesarean section at term. At the time of writing, she is three years post-repair, remains asymptomatic, and has now completed her family. Conclusion: We demonstrate herein an effective laparoscopic surgical repair of a uteroperitoneal fistula and report an excellent clinical outcome including successful live birth. With only 15 cases reported in the literature to date, it is unsurprising there is lack of consensus and little guidance with regards to their management. Following review of the literature, we propose a management algorithm to help guide and facilitate the management of such cases in the future. Given the preponderance to impact women of reproductive age, and the fact that more than a third affected are nulliparous, consideration of fertility sparing surgical techniques is essential.","PeriodicalId":206072,"journal":{"name":"Annals of Gynecology and Obstetrics","volume":"53 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114519372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mifepristone-Misoprostol for Second Trimester Termination of Pregnancy: Experience at a Teaching Hospital 米非司酮-米索前列醇用于中期妊娠终止:一所教学医院的经验
Annals of Gynecology and Obstetrics Pub Date : 2020-11-07 DOI: 10.36959/468/471
Gudu Wondimu, Kahsay Okbahanis, Nigatu Balkachew
{"title":"Mifepristone-Misoprostol for Second Trimester Termination of Pregnancy: Experience at a Teaching Hospital","authors":"Gudu Wondimu, Kahsay Okbahanis, Nigatu Balkachew","doi":"10.36959/468/471","DOIUrl":"https://doi.org/10.36959/468/471","url":null,"abstract":"Objectives: To assess the effectiveness of mifepristone and Misoprostol in second trimester termination of pregnancy among women admitted to a teaching hospital in Ethiopia. Methods: A cross-sectional study was conducted was conducted using a structured questionnaire to collect data clinical profile of patients, the total dose of misoprostol used, the timing of expulsion and complications. The protocol used was: Mifepristone 200 mg oral and 400 mcg misoprostol for gestational age of 13 to 24 weeks and 100 mcg for 24 to 27 + 6 weeks of gestation given intra-vaginally every 3 hours until a maximum of 10 doses in 48 h. Data was entered and analyzed using SPSS. Results: In this study 102 patients with 2 nd trimester pregnancy between gestational age of 14 to 27 wks + 6 days were given a combined Mifepristone and Misoprostol. About 98 (81.7%) cases have expelled the fetus within 24 hrs. whereas 111 (92.5%) of the cases expelled within 48 hrs of the initiation of medical termination. In 79 cases (77.5%), fetal expulsion has occurred with the first course of misoprostol and about 91 cases (89.2%) have completed the expulsion with the second course of the treatment. There were no cases of uterine rupture and bleeding necessitating blood transfusion. Conclusion: Mifepristone and misoprostol combination use for second trimester termination of pregnancy is safe, effective and is not associated with significant complications.","PeriodicalId":206072,"journal":{"name":"Annals of Gynecology and Obstetrics","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131960131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Recurrent Miscarriage in the Context of COVID-19 Pandemic: Is There An Association? COVID-19大流行背景下复发性流产:是否存在关联?
Annals of Gynecology and Obstetrics Pub Date : 2020-09-28 DOI: 10.36959/468/470
E. Omnia, Shaltout Asmaa S, A. Ahmed M
{"title":"Recurrent Miscarriage in the Context of COVID-19 Pandemic: Is There An Association?","authors":"E. Omnia, Shaltout Asmaa S, A. Ahmed M","doi":"10.36959/468/470","DOIUrl":"https://doi.org/10.36959/468/470","url":null,"abstract":"","PeriodicalId":206072,"journal":{"name":"Annals of Gynecology and Obstetrics","volume":"9 2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123799260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cesarean Skin Scar Characteristics For Preoperative Prediction of Intra-Abdominal Adhesions At Repeat Cesarean Delivery; a Prospective Cohort Study 剖宫产皮肤瘢痕特征预测重复剖宫产术后腹内粘连前瞻性队列研究
Annals of Gynecology and Obstetrics Pub Date : 2020-09-28 DOI: 10.36959/468/469
K. Mohammed, A. Fatma, ElMasry Ihab, A. Ahmed M, Khalifa Mansour A
{"title":"Cesarean Skin Scar Characteristics For Preoperative Prediction of Intra-Abdominal Adhesions At Repeat Cesarean Delivery; a Prospective Cohort Study","authors":"K. Mohammed, A. Fatma, ElMasry Ihab, A. Ahmed M, Khalifa Mansour A","doi":"10.36959/468/469","DOIUrl":"https://doi.org/10.36959/468/469","url":null,"abstract":"a Abstract Objective: To evaluate the association between cesarean skin scar characteristics and intra-abdominal adhesions at repeat cesarean delivery (CD) Materials and methods: The current study was a prospective cohort study carried out in a tertiary Maternity hospital. Three hundred women with prior CD and scheduled for elective repeat CD were included. Preoperative evaluation of the cesarean skin scar characteristics was performed including scar appearance, pigmentation, length and width. During repeat CD, intra-abdominal adhesions were evaluated and classified according to the Nair’s scoring system. The primary outcome was the rate and severity of adhesions and their association with the different skin scar characteristics. Results: No difference between women with flat scars versus non-flat scars regarding the presence of adhesions (p = 0.148). However, dense adhesions were significantly present in women with non-flat scars (71.7%) versus (46.1%) in the other group (p = 0.001). No difference between women with hyper pigmented and non-pigmented scars regarding the presence of adhesions (p = 0.448). Correlation analysis shows that Nair's score had a significant positive moderate correlation with scar length (r = 0.575, p = 0.032), however no correlation with scar width (r = 0.137, p = 0.082). Conclusion: Cesarean skin scar length and presence of non-flat scars could be associated with the presence of intraabdominal adhesions during repeat CD.","PeriodicalId":206072,"journal":{"name":"Annals of Gynecology and Obstetrics","volume":"45 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122411815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
GSM - Why Should We Care? GSM -我们为什么要关心?
Annals of Gynecology and Obstetrics Pub Date : 2020-09-28 DOI: 10.36959/468/468
Peters Kelly Jo
{"title":"GSM - Why Should We Care?","authors":"Peters Kelly Jo","doi":"10.36959/468/468","DOIUrl":"https://doi.org/10.36959/468/468","url":null,"abstract":"It is estimated that nearly 60% of women in menopause experience a condition called genitourinary syndrome of menopause (GSM) but the majority of these women do not bring up this concern with their health care provider. Studies also show that only 7% of healthcare providers ask women about this condition. This may be due to embarrassment or thinking this is a normal part of aging; both by patients and healthcare providers. This condition is progressive and may affect many aspects of a woman’s health including dyspareunia and subsequent decreased libido, as well as an increased risk of vaginal and urinary tract infections, pelvic organ prolapse and incontinence. Women may stop exercising due to discomfort and increase their risk of obesity related health problems as well as emotional health issues. It may also cause women to avoid coming in for their gynecologic exams with the potential of a missed or delayed diagnosis of a serious medical condition. This article is intended to address the signs, symptoms and significant impact this condition can have for women as well as help healthcare providers learn to ask about this, diagnose it, understand the impact it may have on women’s health and review various available treatment options.","PeriodicalId":206072,"journal":{"name":"Annals of Gynecology and Obstetrics","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129545430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prognostic Value of Tumour-Infiltrating Lymphocytes Changes between Pre and Post-Neoadjuvant Treatment and in Residual Disease in Triple Negative Breast Cancer 三阴性乳腺癌新辅助治疗前后及残留病变肿瘤浸润淋巴细胞变化的预后价值
Annals of Gynecology and Obstetrics Pub Date : 2019-10-24 DOI: 10.36959/468/466
C. Herrero-Vicent, A. Calatrava, M. Ramirez, J. Gavilá, Á. Guerrero, A. Hernández-Serra, J. López-Guerrero, V. Guillem-Porta, A. Ruiz-Simón
{"title":"Prognostic Value of Tumour-Infiltrating Lymphocytes Changes between Pre and Post-Neoadjuvant Treatment and in Residual Disease in Triple Negative Breast Cancer","authors":"C. Herrero-Vicent, A. Calatrava, M. Ramirez, J. Gavilá, Á. Guerrero, A. Hernández-Serra, J. López-Guerrero, V. Guillem-Porta, A. Ruiz-Simón","doi":"10.36959/468/466","DOIUrl":"https://doi.org/10.36959/468/466","url":null,"abstract":"Triple-negative breast cancer (TNBC) is a heterogeneous disease with different biological behaviours and aggressiveness. Cancer immune edition has been revealed as a major hallmark in cancer. In patients treated with neoadjuvant chemotherapy (NAC) it is the perfect setting to study possible changes in tumour-infiltrating lymphocyte (TIL) levels since we have histological sample pre-treatment after NAC lacking pathological complete response (pCR).","PeriodicalId":206072,"journal":{"name":"Annals of Gynecology and Obstetrics","volume":"15 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128035917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Three-Dimensional Ultrasound Assists in Accurately Characterizing Cervical Ectopic Gestation: A Case Report 三维超声辅助准确诊断宫颈异位妊娠1例
Annals of Gynecology and Obstetrics Pub Date : 2019-06-28 DOI: 10.36959/468/465
J. Ng, S. Dolitsky, M. Sauer, M. Schuster
{"title":"Three-Dimensional Ultrasound Assists in Accurately Characterizing Cervical Ectopic Gestation: A Case Report","authors":"J. Ng, S. Dolitsky, M. Sauer, M. Schuster","doi":"10.36959/468/465","DOIUrl":"https://doi.org/10.36959/468/465","url":null,"abstract":"Cervical ectopic pregnancy (CEP) is rare, and occurs when the blastocyst implants into the endocervical canal. They are particularly dangerous because they are difficult to diagnose, and typically present with massive hemorrhage necessitating hysterectomy. Therefore, there exists a need to definitively diagnose this condition earlier.","PeriodicalId":206072,"journal":{"name":"Annals of Gynecology and Obstetrics","volume":"165 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115623175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reproductive Implications of Consanguinity: Recurrent Hydrops and a Fetal Diagnosis of Lethal Gaucher Disease 血缘关系的生殖意义:复发性积液和致命戈谢病的胎儿诊断
Annals of Gynecology and Obstetrics Pub Date : 2019-06-26 DOI: 10.4172/2325-9795.1000326
Jayakumaran Js, S. Khan, E. Ashkinadze, M. Schuster
{"title":"Reproductive Implications of Consanguinity: Recurrent Hydrops and a Fetal Diagnosis of Lethal Gaucher Disease","authors":"Jayakumaran Js, S. Khan, E. Ashkinadze, M. Schuster","doi":"10.4172/2325-9795.1000326","DOIUrl":"https://doi.org/10.4172/2325-9795.1000326","url":null,"abstract":"Consanguinity is defined as a relationship with one recent ancestor in common. We present a Muslim couple with known consanguinity and their fetal outcomes over multiple pregnancies. This patient is a 28 yo G4P0300 who is married to her fourth cousin. Her first pregnancy was in Egypt during which a fetal demise was diagnosed at 21 weeks. Her second pregnancy ended in another fetal demise at 27 weeks and most organs were consistent with hydrops. Expanded carrier screening of both parents was negative. Her third pregnancy was complicated by hydropic changes at 21 weeks and fetal demise at 22 weeks. She consented to a trio whole exome sequence revealing a homozygous nonsense mutation c.1534A>T in the GBA gene. The mutation was found in the heterozygous state for each parent. Homozygosity for this mutation is associated with the perinatal lethal form of Gaucher disease, type 2. The patient was already 13 weeks pregnant when these results became available and she opted for a CVS procedure which confirmed that the fetus had not inherited any copies of the c.1534A>T mutation and was unaffected. While there is several case reports describing the Gaucher disease type 2, this case highlights the relevance of consanguinity. This case highlights the utility of whole exome sequencing in the setting of prenatal diagnosis and illustrates the significant limitations of expanded carrier screening when a genotyping panel is utilized with limited mutations per gene evaluated.","PeriodicalId":206072,"journal":{"name":"Annals of Gynecology and Obstetrics","volume":"24 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125144644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
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