Best Practice & Research Clinical Obstetrics & Gynaecology最新文献

Surgical treatment of endometriosis – Controversies: Preface 子宫内膜异位症的手术治疗 - 争议：前言。

IF 3.9 2区医学

Best Practice & Research Clinical Obstetrics & Gynaecology Pub Date : 2024-11-08 DOI: 10.1016/j.bpobgyn.2024.102561

Marcello Ceccaroni, Fabio Barra

引用次数: 0

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

Rodolfo Gómez Ponce de León , Cristian Fabrizio Lombardo , Franco Dilascio , Gabriela Perrotta , Carlos A. León , Suzanne Jacob Serruya

{"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":"Rodolfo Gómez Ponce de León , Cristian Fabrizio Lombardo , Franco Dilascio , Gabriela Perrotta , Carlos A. León , Suzanne Jacob Serruya","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":"97 ","pages":"Article 102551"},"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

Rachel Sagar , Anna L. David

{"title":"Fetal therapies – (Stem cell transplantation; enzyme replacement therapy; in utero genetic therapies)","authors":"Rachel Sagar , Anna L. David","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":"97 ","pages":"Article 102542"},"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

Mohamed Wafik , Alice Pendlebury-Watt , Kelly Price , Charlotte Tomlinson , Emma Fowler , Natalie Chandler , Muriel Holder-Espinasse

{"title":"Prenatal detection of copy number variants","authors":"Mohamed Wafik , Alice Pendlebury-Watt , Kelly Price , Charlotte Tomlinson , Emma Fowler , Natalie Chandler , Muriel Holder-Espinasse","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":"97 ","pages":"Article 102547"},"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

Ruth Horn , Alison Hall , Anneke Lucassen

{"title":"Ethical considerations in prenatal genomic testing","authors":"Ruth Horn , Alison Hall , Anneke Lucassen","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":"97 ","pages":"Article 102548"},"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

Roni Zemet , Ignatia B. Van den Veyver

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

Stephanie K. Allen , Samantha Doyle

{"title":"Chapter 2: Non-invasive prenatal diagnosis","authors":"Stephanie K. Allen , Samantha Doyle","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":"97 ","pages":"Article 102544"},"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

Lina Basel-Salmon , Dana Brabbing-Goldstein

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

Maggie O’Brien , Sinead Whyte , Sam Doyle , Fionnuala M. McAuliffe

{"title":"Genetic disorders in maternal medicine","authors":"Maggie O’Brien , Sinead Whyte , Sam Doyle , Fionnuala M. McAuliffe","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":"97 ","pages":"Article 102546"},"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

Raymond Hang Wun Li , Sue Seen Tsing Lo , Sharon Tracey Cameron

引用次数: 0