Obstetrical & Gynecological Survey最新文献

{"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":null,"pages":null},"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}

{"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":null,"pages":null},"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}

{"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":null,"pages":null},"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}

{"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":null,"pages":null},"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}

{"title":"The Risks and Benefits of Monoclonal Antibody Therapy During Pregnancy and Postpartum: Maternal, Obstetric, and Neonatal Considerations.","authors":"Natalie E Wickenheisser,&nbsp;Amanda M Craig,&nbsp;Jeffrey A Kuller,&nbsp;Sarah K Dotters-Katz","doi":"10.1097/OGX.0000000000001155","DOIUrl":"10.1097/OGX.0000000000001155","url":null,"abstract":"<p><strong>Importance: </strong>Autoimmune and rheumatologic conditions can lead to multiple adverse maternal, obstetric, and neonatal outcomes, especially if they flare during pregnancy. Although many medications to control these conditions exist, concerns regarding their safety often unnecessarily limit their use.</p><p><strong>Objective: </strong>We aim to review the current evidence available describing the use of monoclonal antibody (mAb) therapeutics in pregnancy and postpartum and understand the impact of their use on the developing fetus and neonate.</p><p><strong>Evidence acquisition: </strong>Original research articles, review articles, case series and case reports, and pregnancy guidelines were reviewed.</p><p><strong>Results: </strong>Multiple retrospective (including 1924 patients) and prospective studies (including 899 patients) of anti-tumor necrosis factor (TNF) agent use in pregnancy found no significant increase in rates of miscarriage, preterm birth, or congenital anomalies compared with controls. Most societies, including American College of Obstetricians and Gynecologists and Society for Maternal-Fetal Medicine, recommend initiation or continuation of TNF-α inhibitors during pregnancy for patients with autoimmune diseases. An increased risk of mild infections in newborns has been reported, although infections requiring hospitalizations are rare. Data suggest that breastfeeding while taking anti-TNF agents is safe for neonates. Less data exist for the use of other mAbs including anticytokine, anti-integrin, and anti-B-cell agents during pregnancy and postpartum.</p><p><strong>Conclusions and relevance: </strong>Current evidence suggests that the use of mAbs, particularly anti-TNF agents, is safe in pregnancy and postpartum, without significant adverse effects on the pregnant patient or infant. The benefits of ongoing disease control in pregnant patients result in favorable maternal and neonatal outcomes.</p>","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":null,"pages":null},"PeriodicalIF":6.2,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9853213","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}

{"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":null,"pages":null},"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}

{"title":"Noninvasive Prenatal Screening for Cystic Fibrosis Using Circulating Trophoblasts: Detection of the 50 Most Common Disease-Causing Variants","authors":"Line Dahl Jeppesen, Dorte Launholt Lildballe, Lotte Hatt, Jakob Hedegaard, Ripudaman Singh, Christian Liebst Frisk Toft, Palle Schelde, Anders Sune Pedersen, Michael Knudsen, Ida Vogel","doi":"10.1097/01.ogx.0000947140.57660.b6","DOIUrl":"https://doi.org/10.1097/01.ogx.0000947140.57660.b6","url":null,"abstract":"(Abstracted from Prenat Diagn 2023;43:3–13) Autosomal recessive disorders can have a significant impact on quality of life for parents and individuals. One of the most common but also potentially severe of these disorders is cystic fibrosis (CF), a disorder that causes pulmonary and pancreatic dysfunction.","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135509345","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}

{"title":"Outcomes of Menstrual Management Use in Transgender and Gender-Diverse Adolescents","authors":"Beth I. Schwartz, Benjamin Bear, Vanessa L. Short, Anne E. Kazak","doi":"10.1097/01.ogx.0000947144.68078.47","DOIUrl":"https://doi.org/10.1097/01.ogx.0000947144.68078.47","url":null,"abstract":"(Abstracted from Obstet Gynecol 2023;141:748–755) For those who do not identify as female, gender dysphoria may be exacerbated by the onset of menses and they may desire menstrual management. Also known as menstrual manipulation or suppression, menstrual management entails hormonal medication use for stopping or improving periods.","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135509347","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}

{"title":"Prescription Opioid Use for Acute Pain and Persistent Opioid Use After Gynecologic Surgery: A Systematic Review","authors":"Kristen A. Matteson, Megan O. Schimpf, Peter C. Jeppson, Jennifer C. Thompson, Rajiv B. Gala, Sunil Balgobin, Ankita Gupta, Deslyn Hobson, Cedric Olivera, Ruchira Singh, Amanda B. White, Ethan M. Balk, Kate V. Meriwether","doi":"10.1097/ogx.0000000000001171","DOIUrl":"https://doi.org/10.1097/ogx.0000000000001171","url":null,"abstract":"(Abstracted from Obstet Gynecol 2023;141:681–696) Although opioid analgesics can be an effective pain control method in the acute postoperative period, their use comes with risks such as opioid misuse, persistent use, or opioid use disorders. As most postsurgical patients use less than half of their prescribed opioids (and rarely dispose of unused medication), millions of legitimately prescribed opioid tablets are available for diversion and misuse annually.","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135509445","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}

{"title":"Concurrent Surgery for Locoregional Gynecologic Cancers and Pelvic Floor Disorders in a Population of Patients With Medicare Insurance","authors":"Logan Corey, Randell Seaton, Julie J. Ruterbusch, Carol Emi Bretschneider, Alex Vezina, Trieu Do, Deslyn Hobson, Ira Winer","doi":"10.1097/ogx.0000000000001172","DOIUrl":"https://doi.org/10.1097/ogx.0000000000001172","url":null,"abstract":"(Abstracted from Obstet Gynecol 2023;141:629–641) Most women diagnosed with a gynecologic cancer report symptoms related to pelvic organ prolapse or urinary incontinence (POP-UI) before and during their cancer treatment. Often, these symptoms go untreated; however, several studies have suggested concurrent surgery for gynecologic cancer, and POP-UI symptoms is safe and may reduce total surgeries but lack long-term follow-up data.","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135509338","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}