Obstetrical & Gynecological Survey最新文献

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The Association Between the Number of Vacuum Pop-Offs and Adverse Neonatal Outcomes 真空弹出次数与新生儿不良结局之间的关系
4区 医学
Obstetrical & Gynecological Survey Pub Date : 2023-08-01 DOI: 10.1097/01.ogx.0000967000.16402.41
Allie Sakowicz, Salwa J. Zahalka, Emily S. Miller
{"title":"The Association Between the Number of Vacuum Pop-Offs and Adverse Neonatal Outcomes","authors":"Allie Sakowicz, Salwa J. Zahalka, Emily S. Miller","doi":"10.1097/01.ogx.0000967000.16402.41","DOIUrl":"https://doi.org/10.1097/01.ogx.0000967000.16402.41","url":null,"abstract":"ABSTRACT Vacuum-assisted vaginal delivery (VAVD) is used to expedite vaginal delivery in cases of an arrest of descent, maternal exhaustion, or concern for fetal well-being. In 2015, the rate of VAVD was greater than the use of forceps in the United States (2.58% vs 0.56%). Several studies have examined various characteristics of vacuum devices, such as cup shape and material, number of pulls, and number of pop-ups, which is defined as the spontaneous dislodgment of the cup from the fetal scalp. Vacuum manufacturers, such as Kiwi and Mityvac, recommend abandoning VAVD as an intervention after 2 or 3 pop-offs; however, the American College of Obstetricians and Gynecologists acknowledges that there are not enough data to recommend guidelines on how many pop-offs should be allowed before discontinuing. Some studies have demonstrated an increased risk of adverse neonatal outcomes with any number of pop-offs versus no pop-offs, whereas other studies have shown no independent association between the number of pop-offs and neonatal head injury. In addition, compared with an increase in the number of pop-offs, a large multicenter study found that increased duration of VAVD has a stronger association with adverse outcomes. The aim of this study was to examine the association between the number of pop-offs and adverse neonatal outcomes. This was a retrospective cohort study conducted at a single tertiary care institution from October 1, 2005, to June 1, 2014. Data were collected from electronic medical records. Included were adult women with singleton pregnancies who delivered via VAVD or a trial of VAVD followed by cesarean delivery. Excluded were those who underwent sequential trials of both vacuum and forceps. Institutional policy recommended converting to cesarean delivery after >3 pop-offs, but the decision was left to the discretion of the physician. The primary outcome was a composite of severe adverse neonatal outcome, including brachial plexus injury, intracranial hemorrhage, convulsions, and central nervous system (CNS) depression. Other outcomes of study were scalp/facial lacerations, intracranial hemorrhage, seizures, CNS depression, and admission to the neonatal intensive care unit (NICU). A total of 1730 women were included in the analysis. Of these, 74.7% had no pop-offs, 13.9% had 1 pop-off, 7.4% had 2 pop-offs, and approximately 4% had ≥3 pop-offs. Approximately 94% delivered via VAVD. As the number of pop-offs increased, the number of scalp/facial lacerations, intracranial hemorrhage, subgaleal hemorrhage, convulsions, CNS depression, and NICU admissions significantly increased. However, there was no association with the composite outcome, as well as severe perinatal laceration, shoulder dystocia, brachial plexus injury, and cephalohematoma. Adjusting for confounders, having any number of pop-offs increased the likelihood of scalp/facial lacerations, intracranial hemorrhage, convulsions, CNS depression, and NICU admission. However, the","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"72 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136107084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An Update on Human Papillomavirus Vaccination in the United States 美国人乳头瘤病毒疫苗接种的最新进展
4区 医学
Obstetrical & Gynecological Survey Pub Date : 2023-08-01 DOI: 10.1097/ogx.0000000000001184
Teresa K. L. Boitano, Peter W. Ketch, Isabel C. Scarinci, Warner K. Huh
{"title":"An Update on Human Papillomavirus Vaccination in the United States","authors":"Teresa K. L. Boitano, Peter W. Ketch, Isabel C. Scarinci, Warner K. Huh","doi":"10.1097/ogx.0000000000001184","DOIUrl":"https://doi.org/10.1097/ogx.0000000000001184","url":null,"abstract":"ABSTRACT Human papillomavirus (HPV) is the most common sexually transmitted infection in the United States in adults, and although most cases are transient, 10%–20% of infections can persist and progress to various forms of cancer. The HPV vaccine prevents more than 90% of HPV infections and HPV-associated cancers. The vaccine is most effective at preventing all types of HPV-related dysplasia in patients with no prior exposure to HPV. Reasons for decreased compliance include parent-specific factors such as education, safety concerns, absence of professional recommendation, and apprehension about supporting sexual behavior, whereas professional-level barriers include lack of time to discuss vaccination, knowledge gaps, vaccine access, and financial concerns. This clinical expert series highlights the evidence supporting the HPV vaccine as a safe and effective way to prevent cervical cancer. Most HPV infections are acquired in individuals aged 14–24 years with increasing prevalence with each year. Shared decision-making should be used for patients aged 27–45 years, in whom the vaccine has been demonstrated to be safe and effective, but the population advantage of vaccination is expected to be limited. Unvaccinated health care workers exposed to the virus in their practices should be vaccinated between the ages of 27 and 45 years. A previous HPV infection should not be a reason to not receive the vaccine, and it is not necessary to screen individual patients before vaccination. The vaccine is efficacious against other HPV types regardless of which HPV strain an individual may be positive for at the time of vaccination. Regarding women with HPV-related dysplasia such as high-grade squamous intraepithelial lesions that undergo excisional procedures, up to 15% will experience persistent or recurrent disease, and these women are at higher risk of developing a new HPV-associated lesion. Therefore, vaccination may provide a significant reduction in future disease in this patient population. The World Health Organization Strategic Advisory Group of Experts on Immunization recently evaluated the current scheduling regimens for the HPV vaccine and concluded that a single dose may provide enough protection in individuals younger than age 21; however, the Centers for Disease Control and Prevention is yet to comment. An ongoing large randomized, controlled, double-blinded, noninferiority trial (ESCUDDO) is currently evaluating a single-dose versus 2-dose regimen that will help elucidate whether vaccine scheduling in the United States may change to a single-dose paradigm. The strongest predictor of vaccine uptake is health care professional recommendation, and patients with prior infection or excision should still be offered the vaccine. Finally, although vaccination national guidelines are in place for individuals aged 9–26 years, certain patient populations older than 26 years may benefit from the vaccine.","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"59 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136106141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unindicated Cervical Cancer Screening in Adolescent Females Within a Large Healthcare System in the United States 在美国的一个大型医疗保健系统中,青少年女性的无指征宫颈癌筛查
4区 医学
Obstetrical & Gynecological Survey Pub Date : 2023-08-01 DOI: 10.1097/ogx.0000000000001179
Hillary Hosier, Sangini S. Sheth, Carlos R. Oliveira, Lauren E. Perley, Alla Vash-Margita
{"title":"Unindicated Cervical Cancer Screening in Adolescent Females Within a Large Healthcare System in the United States","authors":"Hillary Hosier, Sangini S. Sheth, Carlos R. Oliveira, Lauren E. Perley, Alla Vash-Margita","doi":"10.1097/ogx.0000000000001179","DOIUrl":"https://doi.org/10.1097/ogx.0000000000001179","url":null,"abstract":"ABSTRACT The increasingly complicated nature of screening guidelines for cervical cancer includes multiple component tests (cytology, genotyping, and high-risk human papilloma virus [HPV] testing) and evolving recommendations. The aim of this study was assessing single-large-healthcare-system trends over time associated with adolescent females and unindicated cervical cancer screening tests. This repeated cross-sectional study analyzed electronic medical records of provider- and patient-specific variables from the Yale New Haven Health System. Included in the study were all 13- to 20-year-old Yale New Haven Health System patients who underwent screening for cervical cancer via either HPV testing or cytology between January 1, 2012 and December 31, 2018. Age, medical histories, surgical histories, self-reported race and ethnicity, and prescribed medications were all patient-specific variables. Provider-specific variables included clinical practice affiliation, clinical degree, and adolescent patient volume (number of medical visits completed by a patient less than 21 every 6 months). In terms of this study, definition of practice setting was either academic (low-income teaching hospitals) or community-based (private practice setting with primarily insured women). Cytologies were categorized as either unindicated or indicated, based on cervical cancer screening guidelines from 2012 (recorded as unindicated for index specimens collected before the 21st birthday in patients lacking immunocompromised conditions). Should an HPV test be performed, any results other than “atypical squamous cells of undetermined significance” received an unindicated status. The final sample size in the study included 794 women from 118 providers (53% community setting and 47% academic setting). Results from analysis of 900 cervical cancer screenings demonstrated that unindicated tests made up the majority of tests (90%), with 87% of these being unindicated cytology testing only and 14% with unindicated HPV testing as well. Reasons for obtaining unindicated tests as recorded in the original clinical history were lacking, as 62% had no justification listed for testing, and those with reasons failed current guideline compliance. The incidence rate (IR) of adolescent unindicated tests decreased by 33% between 2012 and 2018. Although a significantly lower IR of unindicated screening existed in the academic setting, the rate of decline in the IR of unindicated screening during this period was significantly greater in the community than in the academic setting by 11%. A strength of the study included its ability to calculate IRs in all encounters, including sexually transmitted infection or contraception screenings. Limitations included utilization of hospital system cytology reports for obtaining data, thereby hindering any access to data necessary for validation of screening or surveillance indications from previously performed antecedent cytology. Furthermore, the study faile","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"48 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136106143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association Between Enlarged Genital Hiatus and Composite Surgical Failure After Vaginal Hysterectomy With Uterosacral Ligament Suspension 阴道子宫切除术合并子宫骶韧带悬吊术后生殖器裂孔扩大与复合手术失败的关系
4区 医学
Obstetrical & Gynecological Survey Pub Date : 2023-08-01 DOI: 10.1097/ogx.0000000000001187
Megan S. Bradley, Amaanti Sridhar, Kimberly Ferrante, Uduak U. Andy, Anthony G. Visco, Maria E. Florian-Rodriguez, Deborah Myers, Edward Varner, Donna Mazloomdoost, Marie G. Gantz
{"title":"Association Between Enlarged Genital Hiatus and Composite Surgical Failure After Vaginal Hysterectomy With Uterosacral Ligament Suspension","authors":"Megan S. Bradley, Amaanti Sridhar, Kimberly Ferrante, Uduak U. Andy, Anthony G. Visco, Maria E. Florian-Rodriguez, Deborah Myers, Edward Varner, Donna Mazloomdoost, Marie G. Gantz","doi":"10.1097/ogx.0000000000001187","DOIUrl":"https://doi.org/10.1097/ogx.0000000000001187","url":null,"abstract":"ABSTRACT Commonly performed at the time of total vaginal hysterectomy to combat uterovaginal prolapse, uterosacral ligament suspension and sacrospinous ligament fixation are native tissue apical suspensions. Because recurrent pelvic organ prolapse increases over time after apical suspensions, nonmodifiable and modifiable risk factors have been explored. It is suggested by numerous studies that 1 risk factor for recurrent prolapse is an enlarged preoperative and postoperative genital hiatus (GH). An enlarged GH may be indicative of a caudal shift in pelvic viscera, increasing stress on vaginal supports. However, short-term follow-up, retrospective design, and lack of patient perspectives on prolapse outcomes limited the overall impact of those findings. The SUPeR trial (Study of Uterine Prolapse Procedures-Randomized) compared vaginal mesh hysteropexy with vaginal hysterectomy with uterosacral ligament suspension in a randomized trial design with long-term follow-up postoperatively. Postoperative assessments included the patient’s assessment of prolapse symptoms. The primary objective of this manuscript was to evaluate the efficacy of the vaginal hysterectomy with uterosacral ligament suspension amidst groups defined by surgical changes in GH size. The hypothesis predicted higher prolapse recurrence proportions for those with persistently enlarged GH size at 4–6 weeks postoperatively, compared with those with smaller preoperative and postoperative GH sizes. SUPeR participants included in this ancillary analysis underwent vaginal hysterectomy with uterosacral ligament suspension and then completed a 2-year follow-up. Based on preoperative to postoperative GH measurement changes, participants were divided into 3 groups. These groups were (1) persistently enlarged GH (“persistently enlarged”), (2) improved GH (“improved”), and (3) stable or normal GH preoperatively and postoperatively (“stably normal”). Prolapse was defined as any compartment with prolapse 1 cm or more beyond the hymen. The primary aim was comparison of composite surgical failure across the GH groups at 24 months, defined by any of the following conditions: anatomic failure, retreatment for prolapse, or symptoms of bothersome vaginal bulge. Secondary outcomes included the composite surgical failure components, postoperative complications, POP-Q measurements, and pain during intercourse. A total of 81 women were included in this secondary analysis. Predominant characteristics included a median age of 65.6 years, with 50 patients in the “improved group,” 14 patients in the “persistently enlarged” group, and 17 patients in the “stably normal” group. Notably, the prevalence of advanced anterior prolapse at baseline was greatest in the persistently enlarged group compared with that of both the improved and stably normal groups. Also, the prevalence of posterior colporrhaphy during the index procedure varied across groups and was more common in the improved group than the stably normal gro","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"41 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136106142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Extended Use of Levonorgestrel-Releasing Intrauterine System (LNG-IUS) 52 mg: A Population Pharmacokinetic Approach to Estimate In Vivo Levonorgestrel Release Rates and Systemic Exposure Including Comparison With Two Other LNG-IUSs 长期使用左炔诺孕酮宫内释放系统(LNG-IUS) 52 mg:用群体药代动力学方法评估体内左炔诺孕酮释放率和全身暴露,包括与其他两种LNG-IUS的比较
4区 医学
Obstetrical & Gynecological Survey Pub Date : 2023-08-01 DOI: 10.1097/01.ogx.0000967032.19580.48
Jeffrey T. Jensen, Isabel Reinecke, Teun M. Post, Eeva Lukkari-Lax, Birte M. Hofmann
{"title":"Extended Use of Levonorgestrel-Releasing Intrauterine System (LNG-IUS) 52 mg: A Population Pharmacokinetic Approach to Estimate In Vivo Levonorgestrel Release Rates and Systemic Exposure Including Comparison With Two Other LNG-IUSs","authors":"Jeffrey T. Jensen, Isabel Reinecke, Teun M. Post, Eeva Lukkari-Lax, Birte M. Hofmann","doi":"10.1097/01.ogx.0000967032.19580.48","DOIUrl":"https://doi.org/10.1097/01.ogx.0000967032.19580.48","url":null,"abstract":"ABSTRACT With over 30 years of use, levonorgestrel-releasing intrauterine systems (LNG-IUSs) have proven to be highly effective methods of contraceptives. The active ingredient in LNG-IUS, levonorgestrel (LNG), is released directly into the uterine cavity, which causes suppression of endometrial maturation and thickened cervical mucus. A variety of LNG-IUS options exhibit well-established safety profiles and efficacy, providing anywhere between 2 and 18 times lower systemic exposure when compared with LNG-containing pills or implants. Patient-centered decision-making regarding product choice may be encouraged through standardized comparisons of LNG release and exposure during the time of their respective usage periods. Evaluation of the efficacy, safety, and PK of extended Mirena use from beyond 5 years to the conclusion of 8 years was designed in the Mirena Extension Trial (MET), thereby facilitating comparisons with LNG-IUS 19.5 mg and LNG-IUS 13.5 mg. Using validated liquid chromatography-tandem mass spectrometry methods and SHBG concentrations, the authors determined concentrations of plasma LNG levels. Dichloromethane was used for extracting residual LNG from the elastomer material from removed IUS devices, which was then quantified via liquid chromatography and external calibration on a reversed-phase column. Although previous models used measured LNG and SHBG (serum) concentrations, the population pharmacokinetics (popPK) allows for a uniform method of comparison among different pharmacologic studies. The popPK approach allows for a reliable estimates of in vivo LNG exposure and release during the entirety of the 8-year use period. The MET enrolled premenopausal women aged 18–35 years for a multicenter, single-arm study regarding patients who had used LNG-IUS 52 mg for the last 4.5–5 years for up to 8 years. The study took place from December 22, 2016 to May 28, 2021 throughout 54 US centers, with the primary outcome of contraceptive efficacy and failure rate. Participants each provided written, informed consent. Study strengths of the popPK approach included its robust methodology, its ability to provide in vivo release rate estimates, a stepwise demo of model suitability from use years 6 to 8, model-based estimation of unbound LNG, and the ability to provide estimates for both population and individual PK profiles from sparse available sampling. Limitations include the possibility of findings being group effects possibly inapplicable to all LNG-IUS users. In addition, the data fail to provide local endometrial and cervical LNG concentrations due to the systemic nature of the LNG exposure. Finally, the popPK Mondale should not be used for theoretical question addressing (such as creating rate release estimates outside of available data sets). In conclusion, a broad data set indicates that reliable LNG exposure is delivered by 8-year popPK and release models for up to 7 years of LNG-IUs 52 mg use. Efficacy is data-supported for 6–8 years o","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"100 5 Pt 1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136107082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Systematic Review and Meta-analysis of Cell-Free DNA Testing for Detection of Fetal Sex Chromosome Aneuploidy 无细胞DNA检测检测胎儿性染色体非整倍体的系统综述和荟萃分析
4区 医学
Obstetrical & Gynecological Survey Pub Date : 2023-08-01 DOI: 10.1097/ogx.0000000000001188
Matthew A. Shear, Kate Swanson, Ria Garg, Angie C. Jelin, John Boscardin, Mary E. Norton, Teresa N. Sparks
{"title":"A Systematic Review and Meta-analysis of Cell-Free DNA Testing for Detection of Fetal Sex Chromosome Aneuploidy","authors":"Matthew A. Shear, Kate Swanson, Ria Garg, Angie C. Jelin, John Boscardin, Mary E. Norton, Teresa N. Sparks","doi":"10.1097/ogx.0000000000001188","DOIUrl":"https://doi.org/10.1097/ogx.0000000000001188","url":null,"abstract":"ABSTRACT Noninvasive prenatal screening has become a valuable tool in detecting a variety of disorders and abnormalities, including sex chromosome aneuploidies (SCAs). The test uses cell-free DNA (cfDNA) analysis to identify risk for chromosomal abnormalities, which can then be more fully investigated using other tests. Much of previous research focused on cfDNA has assessed autosomal aneuploidies, but few studies have specifically focused on SCAs. The aim of this systematic review and meta-analysis was to assess the accuracy of cfDNA testing in identifying SCAs in singleton pregnancies. Studies were identified by keywords associated with cfDNA, SCA, and noninvasive prenatal testing, and studies were included based on relevance. Inclusion criteria were limited to singleton pregnancies that underwent cfDNA testing with confirmation by diagnostic genetic testing between January 1, 2010 and December 1, 2021. A total of 21 articles were selected for the final meta-analysis. All included studies reported results for monosomy X (45,X), representing nearly 13,000 tests with 254 confirmed positive results, 133 false-positives, and 18 false-negatives. Estimated sensitivity based on this sample was 98.8%, with specificity of 99.4%. Positive and negative predictive values were 14.5% and 100%, respectively. Of the 21 included studies, 16 also reported results for Klinefelter syndrome (47,XXY), representing just over 11,000 tests with 62 confirmed positive results, 10 false-positives, and 11 false-negatives. Estimated sensitivity was 100% and specificity was 100%, with positive predictive value of 97.7% and negative predictive value of 100%. Thirteen of 21 studies included reported results for triple X syndrome (47,XXX), representing roughly 10,000 tests with 38 confirmed positive results, 18 false-positives, and 1 false-negative. This showed an estimated sensitivity of 100% and specificity of 99.9%, with positive predictive value of 61.6% and negative predictive value of 100%. Finally, 9 of the studies included in this meta-analysis reported results for Jacobs syndrome (47,XYY), representing approximately 8500 tests with 22 confirmed positive results, 2 false-positives, and no false-negatives. This led to an estimated sensitivity and specificity of 100%, with positive and negative predictive values also 100%. These results provide evidence that cfDNA testing is effective in identification of SCAs in pregnancies at high risk. This particular population limits the generalizability of the findings but adds to the literature surrounding the effectiveness and accuracy of this method. The analysis used strict criteria to define the studies that were included, yet still included a large sample of tests (12,000), which adds to the statistical and practical significance of the analysis. Generalizing the findings of this study is difficult based on both the fact that the sample did not include low-risk individuals and that positive predictive values varied greatly wit","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"49 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136106145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Evolving Landscape of Genetic Carrier Screening: Clinical Considerations and Challenges. 基因携带者筛查的发展前景:临床考虑和挑战。
IF 6.2 4区 医学
Obstetrical & Gynecological Survey Pub Date : 2023-08-01 DOI: 10.1097/OGX.0000000000001168
Lauren E Buckley, Maeve K Hopkins, Jeffrey A Kuller
{"title":"The Evolving Landscape of Genetic Carrier Screening: Clinical Considerations and Challenges.","authors":"Lauren E Buckley,&nbsp;Maeve K Hopkins,&nbsp;Jeffrey A Kuller","doi":"10.1097/OGX.0000000000001168","DOIUrl":"https://doi.org/10.1097/OGX.0000000000001168","url":null,"abstract":"<p><strong>Importance: </strong>Genetic carrier screening is performed to identify carriers of rare genetic diseases. Identification of carriers allows patients to make informed reproductive health choices and can decrease the incidence of genetic disorders with serious medical implications.</p><p><strong>Objective: </strong>This review aims to provide an overview of the history of prenatal genetic screening and the various forms of carrier screening, a synopsis of recent changes in society recommendations and current practice guidelines, and discussion of clinical challenges associated with carrier screening.</p><p><strong>Evidence acquisition: </strong>Published practice guidelines from relevant professional societies were reviewed and synthesized. PubMed search was performed for relevant history and clinical considerations of carrier screening.</p><p><strong>Results: </strong>Information and evidence summarized in this review include professional society practice guidelines, review articles, and peer-reviewed research articles.</p><p><strong>Conclusions and relevance: </strong>Current practice guidelines differ between stakeholder professional organizations. Expanded carrier screening offers increased identification of rare disease carriers allowing for more informed reproductive choices. However, there are several barriers to the implementation of expanded carrier screening for all patients.</p>","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"78 7","pages":"483-489"},"PeriodicalIF":6.2,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10021913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CenteringPregnancy: A Review of Implementation and Outcomes. 妊娠中心:实施和结果综述。
IF 6.2 4区 医学
Obstetrical & Gynecological Survey Pub Date : 2023-08-01 DOI: 10.1097/OGX.0000000000001169
Julia M Moyett, Khaila Ramey-Collier, Linda M Zambrano Guevara, Amy MacDonald, Jeffrey A Kuller, Sarahn M Wheeler, Sarah K Dotters-Katz
{"title":"CenteringPregnancy: A Review of Implementation and Outcomes.","authors":"Julia M Moyett,&nbsp;Khaila Ramey-Collier,&nbsp;Linda M Zambrano Guevara,&nbsp;Amy MacDonald,&nbsp;Jeffrey A Kuller,&nbsp;Sarahn M Wheeler,&nbsp;Sarah K Dotters-Katz","doi":"10.1097/OGX.0000000000001169","DOIUrl":"https://doi.org/10.1097/OGX.0000000000001169","url":null,"abstract":"<p><strong>Importance: </strong>CenteringPregnancy (CP) is a model for group prenatal care associated with improved perinatal outcomes for preterm birth and low birthweight, increased rates of breastfeeding, and higher rates of patient and clinician satisfaction.</p><p><strong>Objective: </strong>The study aims to review the literature related to perinatal outcomes associated with CP, benefits and barriers to implementation, and utility of the model.</p><p><strong>Evidence: </strong>An electronic-based search was performed in PubMed using the search terms \"CenteringPregnancy\" OR \"Centering Pregnancy,\" revealing 221 articles.</p><p><strong>Results: </strong>The CP model improves patient centeredness, efficiency, and equality in prenatal care. Challenges include administrative buy-in, limited resources, and financial support. Multisite retrospective studies of CP demonstrate improved maternal, neonatal, postpartum, and well-being outcomes, especially for participants from minority backgrounds; however, prospective studies had mixed results. CenteringPregnancy is feasibly implemented with high tenet fidelity in several low- and middle-income settings with improved perinatal outcomes compared with traditional care.</p><p><strong>Conclusions: </strong>CenteringPregnancy is feasible to implement, largely accepted by communities, and shows positive qualitative and quantitative health outcomes. This body of literature supports CP as a potential tool for decreasing racial inequalities in prenatal access, quality of care, and maternal mortality. Further investigation is necessary to inform obstetric clinicians about the potential outcome differences that exist between group and traditional prenatal care.</p>","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"78 7","pages":"490-499"},"PeriodicalIF":6.2,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10021914","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing 用全基因组测序重新分类婴儿死亡的病因
4区 医学
Obstetrical & Gynecological Survey Pub Date : 2023-08-01 DOI: 10.1097/01.ogx.0000967016.12085.9e
Mallory J. Owen, Meredith S. Wright, Sergey Batalov, Yonghyun Kwon, Yan Ding, Kevin K. Chau, Shimul Chowdhury, Nathaly M. Sweeney, Elizabeth Kiernan, Andrew Richardson, Emily Batton, Rebecca J. Baer, Gretchen Bandoli, Joseph G. Gleeson, Matthew Bainbridge, Christina D. Chambers, Stephen F. Kingsmore
{"title":"Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing","authors":"Mallory J. Owen, Meredith S. Wright, Sergey Batalov, Yonghyun Kwon, Yan Ding, Kevin K. Chau, Shimul Chowdhury, Nathaly M. Sweeney, Elizabeth Kiernan, Andrew Richardson, Emily Batton, Rebecca J. Baer, Gretchen Bandoli, Joseph G. Gleeson, Matthew Bainbridge, Christina D. Chambers, Stephen F. Kingsmore","doi":"10.1097/01.ogx.0000967016.12085.9e","DOIUrl":"https://doi.org/10.1097/01.ogx.0000967016.12085.9e","url":null,"abstract":"ABSTRACT Infant mortality rates are quite high even in developed countries; in the United States, infant deaths occur approximately 1 in 200 live births. The leading cause of infant mortality is congenital malformation or chromosomal abnormality, which cause roughly 20% of infant deaths, followed by other causes such as pregnancy complications, preterm birth or low birth weight, and sudden infant death syndrome. Improvements in treatments for certain conditions such as pregnancy complications or prematurity have previously resulted in a reduction in mortality due to these causes. Although the same may be true of congenital malformations or chromosomal abnormalities, the relationship between these factors and infant mortality has not been closely examined. Previous studies have largely been retrospective in nature and varied greatly among method and records used, perpetuating inaccuracies and imprecision. This study aimed to clarify and add to previous literature by examining the relationship between single-locus genetic disease (Mendelian genetic disease) and overall infant mortality. This study applied diagnostic whole-genome sequencing (WGS) to infants in intensive care to diagnose diseases of unknown etiology in a single hospital system between 2015 and 2020. The study was retrospective and included review of medical records and death certificates, as well as results from WGS. Where possible, WGS information was obtained on living infants and their parents, and where that was not possible, it was obtained postmortem. Death certificates and causes of death were also examined and compared with WGS results. In the final sample, 112 infants who died underwent WGS either premortem or postmortem. WGS identified genetic diseases in 46 (41%) of these infants. Of the genetic diseases identified, 83% had previous evidence supporting an association with childhood mortality, and evidence was gathered from previous literature that could improve outcomes for 30%. Death certificate comparisons showed that of 45 infants where WGS showed underlying genetic disease, 62% were not reported on the certificate or attributed to the cause of death. In addition to the 112 infants who died, the study population included 434 infants who survived and also had WGS performed. No significant differences were found between the groups in sex, race, or ethnicity. Types of genetic disease varied between infants who died and those who survived, with only 4% being found in both. Certain diseases were more likely to occur in infants who survived, and others were more likely to occur in infants who died. Specific etiology had some prognostic value, positively predicting either death or survival. These results indicate that first, after examination of WGS in comparison with death certificates, genetic diseases are chronically underreported. In addition, WGS showed that etiology of leading causes of infant mortality could be fundamentally different than previously thought. WGS is als","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"218 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136072203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rate of Manifesting Carriers and Other Unexpected Findings on Carrier Screening 载明携带者的比率及其他在携带者筛查中意外发现
4区 医学
Obstetrical & Gynecological Survey Pub Date : 2023-07-01 DOI: 10.1097/01.ogx.0000947136.14734.37
Sydney K. Clevenger, Justin S. Brandt, Shama P. Khan, Pranali Shingala, Jillian Carrick, Ruchi Aluwalia, Gary A. Heiman, Elena Ashkinadze
{"title":"Rate of Manifesting Carriers and Other Unexpected Findings on Carrier Screening","authors":"Sydney K. Clevenger, Justin S. Brandt, Shama P. Khan, Pranali Shingala, Jillian Carrick, Ruchi Aluwalia, Gary A. Heiman, Elena Ashkinadze","doi":"10.1097/01.ogx.0000947136.14734.37","DOIUrl":"https://doi.org/10.1097/01.ogx.0000947136.14734.37","url":null,"abstract":"(Abstracted from Prenat Diagn 2023;43:117–125) Obstetric care includes many types of assessment of both mother and baby, including screening for genetic conditions. This can be done through genetic tests referred to as carrier screening, which detect carriers at risk to have children with autosomal recessive and X-linked recessive conditions.","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"35 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135509340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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