Obstetrical & Gynecological Survey最新文献

{"title":"Disparities in Genetic Management of Breast and Ovarian Cancer Patients.","authors":"Susan Duyar-Ayerdi, Rebekah M Summey, Denise Uyar","doi":"10.1097/OGX.0000000000001332","DOIUrl":"https://doi.org/10.1097/OGX.0000000000001332","url":null,"abstract":"<p><strong>Importance: </strong>Hereditary breast and ovarian cancer syndrome (HBOC) is most often caused by pathogenic variants in the <i>BRCA1</i> or <i>BRCA2</i> genes. Guidelines exist for genetic testing in patients at high risk, yet significant disparities in genetic testing and management remain. These disparities result in missed opportunities for cancer prevention and treatment.</p><p><strong>Objective: </strong>This review details the multiple layers of disparities in genomic knowledge, testing referral, completion, and posttesting risk reduction for at-risk populations.</p><p><strong>Evidence acquisition: </strong>A comprehensive search of the PubMed database was conducted in September 2023 for studies addressing disparities at all points of HBOC risk assessment and risk reduction.</p><p><strong>Results: </strong>Disparities in genomic knowledge, referral and testing, and in cancer risk reduction exist by race, ethnicity, insurance status, socioeconomic status, age, and care setting in the United States. Many mitigation strategies have been explored with some success.</p><p><strong>Conclusion: </strong>Each component contributes to a \"leaky pipe\" in <i>BRCA</i> testing and management whereby patients eligible for intervention trickle out of the pipe due to inequities at each step. Implementation of proven strategies aimed at disparity reduction in this setting is essential, as well as additional strategy development.</p><p><strong>Relevance: </strong>This review provides clinicians with a comprehensive understanding of disparities in the identification and management of individuals at risk for or diagnosed with HBOC and strategies to reduce disparities in their own practice.</p>","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"79 11","pages":"673-682"},"PeriodicalIF":4.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639427","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":"Autologous Ovarian Tissue Transplantation: Preoperative Assessment and Preparation of the Patient.","authors":"Volkan Turan, Ozgur Oktem","doi":"10.1097/OGX.0000000000001325","DOIUrl":"10.1097/OGX.0000000000001325","url":null,"abstract":"<p><strong>Importance: </strong>Ovarian tissue cryopreservation (OTC) is an innovative and established fertility preservation method. More than 150 live births have been reported worldwide to date with the use of this strategy. OTC is one of the options to preserve fertility in prepubertal girls and for women who have time constraints and/or contraindications for ovarian stimulation for oocyte/embryo freezing before cancer treatment. The success rate of the ovarian tissue transplantation (OTT) depends on many interrelated factors. Therefore, preoperative evaluation and preparation of the candidate patients for the procedure are of paramount importance.</p><p><strong>Objective: </strong>In this review, our aim was to provide a guide for the clinicians, which demonstrates step-by-step assessment and preparation of the patients and ovarian tissue samples for transplantation.</p><p><strong>Evidence acquisition: </strong>We searched for published articles in the PubMed database containing key words, such as OTT, OTC, preoperative assessment, primordial follicle density, and cancer, in the English-language literature until May 2024. We did not include abstracts or conference proceedings.</p><p><strong>Results: </strong>OTT is still a developing method as an effective fertility preservation approach. It is essential to perform a thorough preoperative evaluation of the patient to improve the success rates of transplantation.</p><p><strong>Conclusions and relevance: </strong>Preoperative evaluation and preparation of women for ovarian transplantation surgery should include safety management to prevent reimplantation of malignant cells, transplanting ovarian tissue with minimum follicle loss and the decision of the best transfer site.</p>","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"79 11","pages":"683-688"},"PeriodicalIF":4.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639426","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":"Nondiabetic Fetal Macrosomia: Causes, Outcomes, and Clinical Management.","authors":"Courtney A Bair, Jennifer Cate, Allison Chu, Jeffrey A Kuller, Sarah K Dotters-Katz","doi":"10.1097/OGX.0000000000001326","DOIUrl":"10.1097/OGX.0000000000001326","url":null,"abstract":"<p><strong>Importance: </strong>Fetal macrosomia (FM) is common in clinical practice and carries increased risk of adverse maternal and neonatal health outcomes. Maternal diabetes mellitus (DM) is a well-known cause of macrosomia with significant research and guidelines focusing on macrosomia in this population. Less is known about causes, prevention, and clinical management for suspected FM in individuals without diabetes.</p><p><strong>Objective: </strong>The objective of this review is to describe the risk factors associated with nondiabetic FM, review risks associated with macrosomia in pregnancy, and potential treatment considerations for this condition.</p><p><strong>Evidence acquisition: </strong>Original research articles, review articles, and guidelines on macrosomia were reviewed.</p><p><strong>Results: </strong>Risk factors for macrosomia in patients without DM include previous delivery of an infant with macrosomia, excessive pregnancy weight gain, and obesity. Maternal complications of FM include higher rates of cesarean delivery, postpartum hemorrhage, and vaginal laceration. Fetal complications include shoulder dystocia, decreased Apgar scores, and increased risk of childhood obesity. Exercise during pregnancy has been shown to reduce the risk of FM. Induction of labor prior to 39 weeks is not recommended in the setting of suspected macrosomia as there is a lack of adequate evidence to support that this decreases adverse neonatal or maternal outcomes. In addition, elective cesarean delivery for suspected macrosomia is not recommended to be considered unless estimated fetal weight is greater than 5000 g in the absence of DM.</p><p><strong>Conclusions and relevance: </strong>Delivery of an infant with macrosomia in patients without DM has increased maternal and fetal risks. Predicting infants who will meet criteria for macrosomia is challenging. More research is needed to identify ways to accurately estimate fetal weight, interventions to prevent macrosomia, and additional ways to mitigate risk in patients without DM who have suspected FM.</p>","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"79 11","pages":"653-664"},"PeriodicalIF":4.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639428","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":"Treatment of Obesity Before, During, and After Pregnancy: Time for Obstetricians to Get Involved.","authors":"Deborah Gustafson, Farah Al-Sayyed, Howard Minkoff","doi":"10.1097/OGX.0000000000001329","DOIUrl":"10.1097/OGX.0000000000001329","url":null,"abstract":"<p><strong>Importance: </strong>Obesity is a major public health concern that is associated with serious health risks and consequences for people who want to be, are, or have been pregnant.</p><p><strong>Objective: </strong>We will describe the implications and consequences of obesity, and describe the factors fueling obesity's escalating prevalence. We will describe new treatment approaches including glucagon-like peptide-1 agonists, which may be an effective strategy for achieving weight loss and for improving the health of people who have been, are, or want to be pregnant.</p><p><strong>Evidence acquisition: </strong>Existing literature on obesity consequences, treatment options, and pregnancy implications was reviewed through a PubMed search.</p><p><strong>Results: </strong>Obesity has dire pregnancy-related health consequences and leads to multiple barriers to healthcare. Traditional interventions related to diet and exercise have fallen short, and newer medical therapies are emerging.</p><p><strong>Relevance: </strong>The periods before, during, and after pregnancy are crucial to mitigate potential morbidities of pregnancy pre, peri, and post. Obstetricians have a unique opportunity to tackle the problem of obesity at those times.</p>","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"79 11","pages":"665-672"},"PeriodicalIF":4.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639434","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":"Diagnosis and Management of Preterm Prelabor Rupture of Membranes: A Comprehensive Review of Major Guidelines.","authors":"Sonia Giouleka, Ioannis Tsakiridis, Garyfallia Emmanouilidou, Eirini Boureka, Ioannis Kalogiannidis, Apostolos Mamopoulos, Apostolos Athanasiadis, Themistoklis Dagklis","doi":"10.1097/OGX.0000000000001313","DOIUrl":"https://doi.org/10.1097/OGX.0000000000001313","url":null,"abstract":"<p><strong>Importance: </strong>Preterm prelabor rupture of membranes (PPROM) represents a significant contributor of maternal and neonatal morbidity complicating a significant proportion of pregnancies worldwide.</p><p><strong>Objective: </strong>The aim of this review was to summarize and compare the most recently published guidelines on the diagnosis and management of this critical pregnancy complication.</p><p><strong>Evidence acquisition: </strong>A comparative review of 3 recently updated national guidelines from the American College of Obstetricians and Gynecologists, the Royal College of Obstetricians and Gynaecologists, and the Society of Obstetricians and Gynaecologists of Canada on PPROM was conducted.</p><p><strong>Results: </strong>There is an overall agreement that the diagnosis of PPROM should be mainly based on sterile speculum examination and patient's history, followed by additional tests in equivocal cases, although the accuracy and contribution of both ultrasound and amniotic proteins tests in the diagnosis remain debatable. Following PPROM confirmation, all guidelines recommend the performance of vaginal and rectal swabs, the evaluation of fetal and maternal status, the administration of antibiotics and corticosteroids, and the immediate induction of labor, if severe complications are identified. Expectant management from viability until late preterm period is universally recommended; nevertheless, there are discrepancies on the optimal timing of delivery. Magnesium sulfate should be administered in case of imminent preterm delivery; however, there is no consensus on the upper gestational age limit. Recommendations on inpatient and outpatient management of PPROM are also inconsistent. Moreover, there is no common guidance on the use of tocolysis or antibiotic regimens. Finally, all medical societies agree that closer surveillance of future pregnancies is required.</p><p><strong>Conclusions: </strong>PPROM remains the most common identifiable risk factor of preterm delivery, despite constant improvement in prenatal provision of care. Thus, the establishment of consistent international practice protocols for the timely and accurate diagnosis and the optimal management of this complication seems of vital importance and will hopefully lead to significant reduction of the associated adverse outcomes.</p>","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"79 10","pages":"591-603"},"PeriodicalIF":4.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505041","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":"Implications of Prenatal Cannabis Exposure on Childhood Neurodevelopmental Outcomes: A Summary of the Clinical Evidence.","authors":"Sydney Mei Sheffield, Jeffrey A Kuller, Susan Kay Murphy, Sarah K Dotters-Katz, Jordan Enns Schaumberg","doi":"10.1097/OGX.0000000000001320","DOIUrl":"https://doi.org/10.1097/OGX.0000000000001320","url":null,"abstract":"<p><strong>Importance: </strong>Cannabis is commonly used by pregnant patients for alleviation of pregnancy-associated symptoms. Multiple national medical associations have recommended against prenatal cannabis use, yet misinformation regarding its safety and efficacy remains prevalent in public discourse. Effective and evidence-based patient counseling on prenatal cannabis use requires a thorough understanding of the existing data on fetal neurodevelopment.</p><p><strong>Objective: </strong>The aim of this study was to summarize the existing clinical literature on the impacts of intrauterine cannabis exposure on offspring neurodevelopment.</p><p><strong>Evidence acquisition: </strong>Articles were identified via literature search in PubMed and OVID; relevant articles were reviewed.</p><p><strong>Results: </strong>Limited data have shown associations between intrauterine cannabis exposure and (1) increased startles and difficulty with consolation in the neonatal period, (2) memory challenges, verbal reasoning challenges, and diminished academic performance during early childhood, and (3) inattention, hyperactivity, and aggression during early childhood. Further research with large and diverse samples that use objective measures of cannabis use across multiple time points in pregnancy is required to assess causation, the true extent of impacts, and dose-dependent effects.</p><p><strong>Conclusions and relevance: </strong>The existing clinical data regarding the impacts of prenatal cannabis use on fetal neurodevelopment are limited by important confounders like genetic predisposition, concomitant tobacco and other substance use during pregnancy, and low socioeconomic status. However, the theoretical and demonstrated associations between prenatal cannabis use and adverse neurodevelopmental outcomes are compelling enough to warrant complete abstinence during pregnancy, pending further research. Providers can utilize this summary to offer data-driven guidance on prenatal cannabis use for pregnant patients.</p>","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"79 10","pages":"604-610"},"PeriodicalIF":4.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505043","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":"Provider Guidance for the Prevention of Respiratory Syncytial Virus in Infants: Maternal Vaccination Versus Infant Monoclonal Antibody Treatment.","authors":"Ashley A Cirillo, Stephanie L Gaw","doi":"10.1097/OGX.0000000000001324","DOIUrl":"https://doi.org/10.1097/OGX.0000000000001324","url":null,"abstract":"<p><strong>Importance: </strong>In 2023, the Food and Drug Administration approved 2 new products to reduce the risk of lower respiratory infections caused by respiratory syncytial virus (RSV) in infants: Beyfortus (nirsevimab; AstraZeneca/Sanofi), a single-dose monoclonal antibody for infant administration, and Abrysvo (bivalent RSVpreF vaccine; Pfizer), a single-dose maternal vaccination.</p><p><strong>Objectives: </strong>We aimed to synthesize data from the literature and the leading professional organizations to provide guidance on RSV and strategies to reduce the risk of infant infection. This information will assist prenatal care clinicians in counseling their patients regarding the choice between maternal vaccination and the infant monoclonal antibody.</p><p><strong>Evidence acquisition: </strong>A descriptive review of the guidelines from the Centers for Disease Control and Prevention, American College of Obstetrics and Gynecology (ACOG), American Academy of Pediatrics, Society for Maternal-Fetal Medicine, and the American Academy of Family Physicians.</p><p><strong>Results: </strong>All 5 organizations recommend that RSV vaccination should be offered to all pregnant people during the RSV season (September-January in the continental United States). Infants younger than 8 months entering into their first RSV season born to those who did not receive maternal vaccination or received vaccination less than 14 days prior to birth should be offered monoclonal antibody administration.</p><p><strong>Conclusions: </strong>RSV vaccination and monoclonal antibodies have the potential to significantly reduce the burden of lower respiratory tract infections due to RSV in infants. Future studies should further evaluate the durability of protection and other strategies to further protect the infant, including cocooning and the role of breast milk in immunity.</p>","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"79 10","pages":"585-590"},"PeriodicalIF":4.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505044","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":"Familial Mediterranean Fever in Pregnancy.","authors":"Alana Davidson, Jeffrey A Kuller, Sarah K Dotters-Katz, Rachel L Wood","doi":"10.1097/OGX.0000000000001316","DOIUrl":"https://doi.org/10.1097/OGX.0000000000001316","url":null,"abstract":"<p><strong>Importance: </strong>Though the incidence of familial Mediterranean fever (FMF) in pregnancy is rare, understanding the etiology and symptomatology of FMF is essential for obstetric treatment of patients with FMF.</p><p><strong>Objective: </strong>Familial Mediterranean fever is a hereditary periodic fever syndrome that has unique obstetric considerations. Familial Mediterranean fever is typically characterized by recurrent episodes of high-grade fevers, pleuritis/pericarditis, and arthritis lasting 1-3 days with complete recovery seen in between episodes. Familial Mediterranean fever is seen worldwide, but particularly in patients of Mediterranean descent. Its incidence varies across ethnicities.</p><p><strong>Evidence acquisition: </strong>This article provides a comprehensive review of existing literature.</p><p><strong>Results: </strong>It is well established that colchicine is safe and effective to use during pregnancy in patients with FMF to control and prevent flares. Although most pregnancies progress without negative outcomes, FMF has been shown in the literature to be associated with preterm birth and premature rupture of membranes. Its impact on increasing the rate of fetal growth restriction and hypertensive disorders is less understood. Additionally, FMF flares may be suppressed in pregnancy, whereas other sources report that flares are similar to those outside of pregnancy in terms of frequency, type of symptoms, and severity. Breastfeeding is safe in patients with FMF who are taking colchicine. Genetic counseling can be offered to patients with FMF, but in utero diagnostic testing is generally not pursued solely for the indication of FMF diagnosis in the fetus.</p><p><strong>Conclusions and relevance: </strong>Further investigation of the impact of FMF on pregnancy is needed for advancing our understanding of the condition and optimizing care for pregnant individuals with FMF.</p>","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"79 10","pages":"611-616"},"PeriodicalIF":4.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505042","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":"Therapeutic Rest as an Intervention in Early Labor: A Literature Review.","authors":"Jeilyn N Coston,Sarah K Dotters-Katz,Jeffrey A Kuller,Amanda M Craig","doi":"10.1097/ogx.0000000000001298","DOIUrl":"https://doi.org/10.1097/ogx.0000000000001298","url":null,"abstract":"ImportanceThe latent phase of labor poses a challenge for pregnant patients due to the limited options available for pain relief and management. Therapeutic rest, an intervention involving medication administration during this phase, has shown promise in addressing prelabor discomfort and anxiety.ObjectiveTo emphasize the significance of therapeutic rest during early labor, describe methods of administering this intervention, review data on efficacy and maternal/fetal outcomes, and determine appropriate criteria and timing of utilization.Evidence AcquisitionArticles were obtained from a thorough PubMed literature search; relevant articles were reviewed.ResultsStudies have shown that delaying admission to active labor benefits maternal and fetal outcomes. Pregnant patients admitted in the latent phase are at greater risk for obstetric interventions and have heightened emotional challenges. However, administering therapeutic rest during this phase has shown promising outcomes without significantly increasing the risks of adverse events. Randomized controlled trials are needed to evaluate the efficacy of therapeutic rest on subsequent admission rates for patients in active labor.ConclusionsTherapeutic rest offers a favorable approach to managing pain and discomfort in early labor. Although there are criteria and contraindications, the interventions have shown effectiveness without substantial adverse effects, providing a potential outpatient management strategy for the latent phase of labor.RelevanceThis review offers insight into potential interventions and outcomes for managing the latent stage of labor in pregnant patients.","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"27 1","pages":"533-538"},"PeriodicalIF":6.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142256745","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":"Unusual Maternal and Fetal Findings With Cell-Free DNA Screening.","authors":"Carmen M A Santoli,Mary Katherine Anastasio,Teresa N Sparks,Sarah K Dotters-Katz,Jeffrey A Kuller","doi":"10.1097/ogx.0000000000001297","DOIUrl":"https://doi.org/10.1097/ogx.0000000000001297","url":null,"abstract":"ImportanceWith advances in prenatal cell-free DNA (cfDNA) technology, the information available with cfDNA continues to expand beyond the common fetal aneuploidies such as trisomies 21, 18, and 13. Due to the admixture of maternal and fetal/placental DNA, prenatal cfDNA remains a screening test with the possibility of false-positive and false-negative results.ObjectiveThis review aims to summarize unusual incidental maternal and fetal genomic abnormalities detectable by cfDNA and to provide anticipatory guidance regarding management.Evidence AcquisitionOf 140 articles identified with keywords such as \"incidental\" and \"discordant\" cfDNA, 55 original research articles, review articles, case series, and societal guidelines were reviewed.ResultsPrenatal cfDNA may incidentally identify a spectrum of maternal genomic abnormalities such as malignancy, mosaicism, and copy number variants. When discordant with fetal diagnosis, these cases require additional investigation with maternal genetic testing and follow-up evaluation. Such incidental fetal/placental abnormalities may include rare autosomal trisomies, uniparental disomy, and triploidy. Further evaluation of fetal/placental abnormalities can be pursued with a combination of ultrasound and prenatal diagnosis with chorionic villous sampling and/or amniocentesis. Societal guidelines do not currently recommend cfDNA screening for rare autosomal trisomies, microdeletions, or copy number variants, and some experts suggest that sex chromosome screening should be opted in after counseling.ConclusionsKnowledge about possible incidental findings with prenatal cfDNA is needed to inform pretest and posttest counseling with appropriate follow-up evaluation.RelevanceAs cfDNA technology has advanced to include genome-wide findings, it is important for clinicians, genetic counselors, and societal guidelines to acknowledge the spectrum of possible results outside of the traditional and sex chromosome aneuploidies.","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"70 1","pages":"539-546"},"PeriodicalIF":6.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142256787","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}