Best Practice & Research Clinical Obstetrics & Gynaecology最新文献

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Post pregnancy family planning in Latin America and the Caribbean analysis and strengths in training on immediate contraception post obstetric event by CLAP/PAHO 拉丁美洲及加勒比地区产后计划生育分析和产后立即避孕培训的优势,CLAP/PAHO。
IF 3.9 2区 医学
Best Practice & Research Clinical Obstetrics & Gynaecology Pub Date : 2024-09-13 DOI: 10.1016/j.bpobgyn.2024.102551
{"title":"Post pregnancy family planning in Latin America and the Caribbean analysis and strengths in training on immediate contraception post obstetric event by CLAP/PAHO","authors":"","doi":"10.1016/j.bpobgyn.2024.102551","DOIUrl":"10.1016/j.bpobgyn.2024.102551","url":null,"abstract":"<div><div>Virtual courses developed by the Pan American Health Organization (PAHO) on family planning and immediate contraception post obstetric event (ICPOE) were launched in 2021 as training actions on ICPOE in the region. A total of 89,899 people enrolled in these courses; 36,494 (40.7%) of them enrolled in the course on ICPOE, and almost 60% of participants from Latin America passed the course. Moreover, 37% of participants were nurses, and 36% were physicians; most participants were from 20 to 39 years old. Eighty per cent completed the course in a week, and 89% had finished it by the 15th day. Students who passed the course expressed high overall satisfaction (95%), with ease of taking the course at home (63%) and at the workplace (33%) identified most frequently. Furthermore, practice training sessions (including simulation models) were conducted with 165 candidates to be trainers, physicians, and obstetricians. Approved trainers came from the Dominican Republic, Honduras, Bolivia, and Paraguay.</div></div><div><h3>Conclusion</h3><div>There was evidence of the need for ICPOE training, and the innovative virtual courses developed by PAHO.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142303285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Fetal therapies – (Stem cell transplantation; enzyme replacement therapy; in utero genetic therapies) 胎儿疗法--(干细胞移植;酶替代疗法;子宫内遗传疗法)
IF 3.9 2区 医学
Best Practice & Research Clinical Obstetrics & Gynaecology Pub Date : 2024-09-11 DOI: 10.1016/j.bpobgyn.2024.102542
{"title":"Fetal therapies – (Stem cell transplantation; enzyme replacement therapy; in utero genetic therapies)","authors":"","doi":"10.1016/j.bpobgyn.2024.102542","DOIUrl":"10.1016/j.bpobgyn.2024.102542","url":null,"abstract":"<div><p>Advances in ultrasound and prenatal diagnosis are leading an expansion in the options for parents whose fetus is identified with a congenital disease. Obstetric diseases such as pre-eclampsia and fetal growth restriction may also be amenable to intervention to improve maternal and neonatal outcomes. Advanced Medicinal Therapeutic Products such as stem cell, gene, enzyme and protein therapies are most commonly being investigated as the trajectory of treatment for severe genetic diseases moves toward earlier intervention. Theoretical benefits include prevention of in utero damage, smaller treatment doses compared to postnatal intervention, use of fetal circulatory shunts and induction of immune tolerance. New systematic terminology can capture adverse maternal and fetal adverse events to improve safe trial conduct. First-in-human clinical trials are now beginning to generate results with a focus on safety first and efficacy second. If successful, these trials will transform the care of fetuses with severe early-onset congenital disease.</p></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521693424000968/pdfft?md5=3be5e279e0cb3b6beea5aec7f43a200e&pid=1-s2.0-S1521693424000968-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142242168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prenatal detection of copy number variants 产前检测拷贝数变异
IF 3.9 2区 医学
Best Practice & Research Clinical Obstetrics & Gynaecology Pub Date : 2024-09-07 DOI: 10.1016/j.bpobgyn.2024.102547
{"title":"Prenatal detection of copy number variants","authors":"","doi":"10.1016/j.bpobgyn.2024.102547","DOIUrl":"10.1016/j.bpobgyn.2024.102547","url":null,"abstract":"<div><p>Prenatal detection of copy number variants (CNVs) plays an important role in the diagnosis of fetal genetic abnormalities. Understanding the methods used for prenatal CNV detection and their clinical significance contributes to the implementation of advanced genetic screening techniques in prenatal care; facilitating early identification and management of genetic disorders in fetuses. Some CNVs impose significant genetic counselling challenges; especially those which are associated with uncertain clinical significance, in the context of variable penetrance and/or expressivity or when identified incidentally.</p><p>This chapter focuses on the different techniques used for detecting CNVs, including Single Nucleotide Polymorphism (SNP) arrays, comparative genomic hybridization (CGH) arrays, Non-Invasive Prenatal Testing (NIPT), Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) as well as their advantages and limitations. The tools needed for the classification of CNVs and their clinical relevance are also explored, emphasising the importance of accurate interpretation for appropriate clinical management and genetic counselling.</p></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142229093","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Ethical considerations in prenatal genomic testing 产前基因组检测的伦理考虑因素
IF 3.9 2区 医学
Best Practice & Research Clinical Obstetrics & Gynaecology Pub Date : 2024-09-07 DOI: 10.1016/j.bpobgyn.2024.102548
{"title":"Ethical considerations in prenatal genomic testing","authors":"","doi":"10.1016/j.bpobgyn.2024.102548","DOIUrl":"10.1016/j.bpobgyn.2024.102548","url":null,"abstract":"<div><p>This paper discusses ethical issues arising in the context of prenatal genomic testing. While genomic information in the prenatal context might increase reproductive choice, e.g. to better understand a phenotype detected during screening, the availability of ever broader screens, even in the absence of a suspicion of abnormality, will generate increasingly complex and uncertain information. This raises questions of how much and what information should be provided prior to testing and what information should be returned (and to whom) once testing has been performed. As prenatal genomic testing becomes broader and more routine, the information generated will have more often implications not only for the fetus, but also for the parents, siblings and the wider family, raising questions about professionals' responsibilities. Further challenges discussed in this paper include access to genomic testing and justice, as well as ongoing management and post-pregnancy follow-up. The paper highlights the importance of taking into account the particular difficulties that arise in the context of prenatal genomic testing: the uncertainty of the information while choices are binary (to continue with or to terminate pregnancy); the time pressure due to the statutory limits on the availability of termination; and the impact the testing of the fetus has on the woman's body and life.</p></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521693424001020/pdfft?md5=77e5a5a199abfed5d2135a6a46ddca3b&pid=1-s2.0-S1521693424001020-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142171832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of prenatal genomics on clinical genetics practice 产前基因组学对临床遗传学实践的影响
IF 3.9 2区 医学
Best Practice & Research Clinical Obstetrics & Gynaecology Pub Date : 2024-09-05 DOI: 10.1016/j.bpobgyn.2024.102545
{"title":"Impact of prenatal genomics on clinical genetics practice","authors":"","doi":"10.1016/j.bpobgyn.2024.102545","DOIUrl":"10.1016/j.bpobgyn.2024.102545","url":null,"abstract":"<div><p>Genetic testing for prenatal diagnosis in the pre-genomic era primarily focused on detecting common fetal aneuploidies, using methods that combine maternal factors and imaging findings. The genomic era, ushered in by the emergence of new technologies like chromosomal microarray analysis and next-generation sequencing, has transformed prenatal diagnosis. These new tools enable screening and testing for a broad spectrum of genetic conditions, from chromosomal to monogenic disorders, and significantly enhance diagnostic precision and efficacy. This chapter reviews the transition from traditional karyotyping to comprehensive sequencing-based genomic analyses. We discuss both the clinical utility and the challenges of integrating prenatal exome and genome sequencing into prenatal care and underscore the need for ethical frameworks, improved prenatal phenotypic characterization, and global collaboration to further advance the field.</p></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142167881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Chapter 2: Non-invasive prenatal diagnosis 第 2 章:无创产前诊断
IF 3.9 2区 医学
Best Practice & Research Clinical Obstetrics & Gynaecology Pub Date : 2024-09-03 DOI: 10.1016/j.bpobgyn.2024.102544
{"title":"Chapter 2: Non-invasive prenatal diagnosis","authors":"","doi":"10.1016/j.bpobgyn.2024.102544","DOIUrl":"10.1016/j.bpobgyn.2024.102544","url":null,"abstract":"<div><p>Non-invasive prenatal diagnosis of monogenic disorders is becoming integrated into routine clinical care for many indications. This is carried out by testing cell-free DNA extracted from the plasma portion of a maternal blood sample. The cell-free DNA is low in concentration, and consists of a mixture of maternal and fetally-derived DNA which are not easy to separate. Methods used therefore need to be rapid, sensitive and specific, including real-time PCR, digital PCR and next generation sequencing with complex algorithms. Testing may be required for pregnancies with an increased chance of a monogenic disorder due to family history or carrier status, or where there are specific abnormalities identified by ultrasound scan. In these situations, testing is considered to be diagnostic and therefore does not require confirmation by invasive testing. With increased access to genomic technologies, and more diagnoses for rare disease patients, future demand for NIPD and possibilities during pregnancy will continue.</p></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521693424000981/pdfft?md5=67f63cdfe0eec4ee6d24c6e8306e5835&pid=1-s2.0-S1521693424000981-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142162723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fetal whole genome sequencing as a clinical diagnostic tool: Advantages, limitations and pitfalls 作为临床诊断工具的胎儿全基因组测序:优势、局限和陷阱
IF 3.9 2区 医学
Best Practice & Research Clinical Obstetrics & Gynaecology Pub Date : 2024-09-03 DOI: 10.1016/j.bpobgyn.2024.102549
{"title":"Fetal whole genome sequencing as a clinical diagnostic tool: Advantages, limitations and pitfalls","authors":"","doi":"10.1016/j.bpobgyn.2024.102549","DOIUrl":"10.1016/j.bpobgyn.2024.102549","url":null,"abstract":"<div><p>Genome-wide sequencing, which includes exome sequencing and genome sequencing, has revolutionized the diagnostics of genetic disorders in both postnatal and prenatal settings. Compared to exome sequencing, genome sequencing enables the detection of many additional types of genomic variants, although this depends on the bioinformatics pipelines used. Variant classification might vary among laboratories. In the prenatal setting, variant classification may change if new fetal phenotypic features emerge as the pregnancy progresses. There is still a need to evaluate the incremental diagnostic yield of genome sequencing compared to exome sequencing in the prenatal setting. This article reviews the advantages and limitations of genome sequencing, with an emphasis on fetal diagnostics.</p></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521693424001032/pdfft?md5=9e07961ecf52c8f30182d3c83b2b248b&pid=1-s2.0-S1521693424001032-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142162724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic disorders in maternal medicine 孕产妇医学中的遗传疾病
IF 3.9 2区 医学
Best Practice & Research Clinical Obstetrics & Gynaecology Pub Date : 2024-09-03 DOI: 10.1016/j.bpobgyn.2024.102546
{"title":"Genetic disorders in maternal medicine","authors":"","doi":"10.1016/j.bpobgyn.2024.102546","DOIUrl":"10.1016/j.bpobgyn.2024.102546","url":null,"abstract":"<div><p>The role of genetic testing within maternal medicine is expanding. Advancing technology and the increasing availability of genetic testing have seen more patients receiving a genetic diagnosis than ever before. Improved healthcare and understanding of these rare diseases means that many patients are living well into their reproductive years and starting families.</p><p>Individual diseases are considered by their patterns of inheritance i.e. autosomal recessive, autosomal dominant and chromosomal diseases. This chapter specifically addresses the following examples and outlines an approach to pre-conceptual and pregnancy management; autosomal recessive (cystic fibrosis, phenylketonuria), autosomal dominant (osteogenesis imperfecta, vascular Ehlers-Danlos syndrome) and chromosomal (Turner syndrome).</p><p>For many rare and ultrarare genetic diseases, there may be no clear guidelines or consensus on the correct management in pregnancy. This chapter seeks to provide a framework for the clinician to use to address the unique needs and risk profile of these patients in pregnancy and pre-conceptually and plan accordingly. The role of pharmacogenetics in maternal medicine, the future of education in genetics for patients and clinicians and the important role of genetic counselling are all considered in this chapter.</p><p>This overview highlights the important role of genetics in maternal medicine and how this can inform management and planning for the safe care of mother and baby.</p></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142167456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Hormonal methods for emergency contraception 用于紧急避孕的激素方法。
IF 3.9 2区 医学
Best Practice & Research Clinical Obstetrics & Gynaecology Pub Date : 2024-09-03 DOI: 10.1016/j.bpobgyn.2024.102550
{"title":"Hormonal methods for emergency contraception","authors":"","doi":"10.1016/j.bpobgyn.2024.102550","DOIUrl":"10.1016/j.bpobgyn.2024.102550","url":null,"abstract":"<div><p>The World Health Organization includes oral emergency contraception (EC) in the list of essential medicines. Ulipristal acetate (UPA) and levonorgestrel (LNG) are the recommended oral methods. UPA has superior efficacy and a comparable side effect profile compared with LNG. Both work by inhibiting or delaying ovulation, so that sperm present in the reproductive tract will have lost their fertilising ability by the time the oocyte is eventually released. Neither LNG nor UPA at the EC doses have significant effects on the endometrium and are unable to prevent implantation. Mifepristone can also be used for EC but its availability is limited to few countries. LNG is less effective in women with a body mass index over 26 kg/m<sup>2</sup> or weight over 70 kg. Hormonal contraception can be quickstarted immediately following LNG, or five days following UPA. LNG-releasing intrauterine devices and cyclo-oxygenase inhibitors are promising options for EC to be further studied.</p></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142147067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Implementing non-invasive prenatal testing in a national screening program: Lessons learned from the TRIDENT studies 在国家筛查计划中实施无创产前检测:从 TRIDENT 研究中汲取的经验教训。
IF 3.9 2区 医学
Best Practice & Research Clinical Obstetrics & Gynaecology Pub Date : 2024-09-03 DOI: 10.1016/j.bpobgyn.2024.102543
{"title":"Implementing non-invasive prenatal testing in a national screening program: Lessons learned from the TRIDENT studies","authors":"","doi":"10.1016/j.bpobgyn.2024.102543","DOIUrl":"10.1016/j.bpobgyn.2024.102543","url":null,"abstract":"<div><p>The Dutch NIPT Consortium, a multidisciplinary collaboration of stakeholders in prenatal care initiated and launched the TRIDENT studies. The goal of the TRIDENT studies was to implement non-invasive prenatal testing (NIPT), first as a contingent (second-tier) and later as a first-tier test, and to evaluate this implementation. This paper describes how NIPT can be successfully implemented in a country or state. Important factors include the significance of forming a consortium and encouraging cooperation among relevant stakeholders, appropriate training for obstetric care professionals, and taking into account the perspectives of pregnant women when implementing prenatal tests. We describe the advantages of high sensitivity and specificity when comparing contingent NIPT with first-tier NIPT. This paper emphasizes the value of pre- and post-test counselling and the requirement for a standardized method of information delivery and value clarification, to assist couples in decision making for prenatal screening.</p></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142147068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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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