Best Practice & Research Clinical Obstetrics & Gynaecology最新文献

{"title":"Surgical treatment of endometriosis – Controversies: Preface","authors":"Marcello Ceccaroni, Fabio Barra","doi":"10.1016/j.bpobgyn.2024.102561","DOIUrl":"10.1016/j.bpobgyn.2024.102561","url":null,"abstract":"","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"97 ","pages":"Article 102561"},"PeriodicalIF":3.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142634313","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}

{"title":"Effects of hormonal contraception on mood and sexuality","authors":"Prof em Johannes Bitzer","doi":"10.1016/j.bpobgyn.2024.102560","DOIUrl":"10.1016/j.bpobgyn.2024.102560","url":null,"abstract":"<div><div>The impact of hormonal contraception on mental and sexual health has long been either ignored or considered to be much less important than the cardiovascular, metabolic and cancer risks. In recent years the interest in these side effects, having an impact on the quality of life of users, has grown due to several reasons.<ul><li><span>•</span><span><div>The increased risk in mental health issues like depression and suicide among users became a matter of concern, especially from a public health perspective, in which these risks became as important as the physical health risks described.</div></span></li><li><span>•</span><span><div>The negative impact of mental and sexual health problems on wellbeing became the predominant reason for either not using hormonal contraceptives or the discontinuation of use.</div></span></li></ul></div><div><ul><li><span>•</span><span><div>The increased risk in mental health issues like depression and suicide among users became a matter of concern, especially from a public health perspective, in which these risks became as important as the physical health risks described.</div></span></li><li><span>•</span><span><div>The negative impact of mental and sexual health problems on wellbeing became the predominant reason for either not using hormonal contraceptives or the discontinuation of use.</div></span></li></ul></div><div>In the last decades different scientific approaches to gain empirical evidence about the type and extent of negative effects of hormonal contraceptives on mood and sex did not result in clear evidence-based statements due to the complexity of the interaction between contraceptive methods and mental and sexual health (inconsistent measurement of patient reported outcomes, multiplicity of intervening variables etc).</div><div>Based on an understanding of the biological, psychological and sociocultural factors contributing to the mental and sexual health of the individual user, and the individual impact of hormonal contraception, which can have negative, positive or neutral effects on mood and sexuality, an individualized approach is proposed to integrate mental and sexual health into the practice of contraceptive counselling and care.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"97 ","pages":"Article 102560"},"PeriodicalIF":3.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142482863","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}

{"title":"Fetal whole genome sequencing as a clinical diagnostic tool: Advantages, limitations and pitfalls","authors":"Lina Basel-Salmon ,&nbsp;Dana Brabbing-Goldstein","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":"97 ","pages":"Article 102549"},"PeriodicalIF":3.9,"publicationDate":"2024-12-01","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}

{"title":"Genetic disorders in maternal medicine","authors":"Maggie O’Brien ,&nbsp;Sinead Whyte ,&nbsp;Sam Doyle ,&nbsp;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":"2024-12-01","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}

{"title":"Impact of prenatal genomics on clinical genetics practice","authors":"Roni Zemet ,&nbsp;Ignatia B. Van den Veyver","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":"97 ","pages":"Article 102545"},"PeriodicalIF":3.9,"publicationDate":"2024-12-01","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}

{"title":"Genome sequencing in the prenatal diagnosis of structural malformations in the fetus","authors":"Matthew Hoi Kin Chau ,&nbsp;Mahesh Choolani ,&nbsp;Zirui Dong ,&nbsp;Ye Cao ,&nbsp;Kwong Wai Choy","doi":"10.1016/j.bpobgyn.2024.102539","DOIUrl":"10.1016/j.bpobgyn.2024.102539","url":null,"abstract":"<div><div>Prenatal genetic diagnosis has undergone two pivotal paradigm shifts, initially with the introduction of chromosomal microarray and subsequently with the advent of next-generation sequencing technologies (NGS). NGS technology has given rise to a multitude of applications, with gene panels, exome sequencing (ES), and genome sequencing (GS) emerging as highly promising tests for prenatal genetic investigations. These advanced approaches have demonstrated superior diagnostic rates when compared to conventional testing methods, showcasing the evolution and enhancement of prenatal genetic screening and diagnostic capabilities. With these ground-breaking innovations, NGS technologies have the potential to replace current standard practice in prenatal diagnosis. With the increasing use of prenatal sequencing, the need for better education and guidance on their applications grows. This chapter aims to illustrate the detection scope and feasibility of various NGS-based methods that are currently used in prenatal diagnosis.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"97 ","pages":"Article 102539"},"PeriodicalIF":3.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142334262","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}

{"title":"The road to hormonal male contraception: End in sight?","authors":"R.A. Anderson,&nbsp;J.J. Reynolds-Wright","doi":"10.1016/j.bpobgyn.2024.102559","DOIUrl":"10.1016/j.bpobgyn.2024.102559","url":null,"abstract":"<div><div>The concept of a hormonal approach that sufficiently and reversibly suppresses spermatogenesis to the level required for effective contraception has been developed and tested over several decades. The reality of achieving this has been confirmed using both testosterone alone and combination methods using a progestogen with a physiological dose of testosterone, necessary to replace the lack of endogenous testosterone production by the suppressed testes. A range of both long-acting and self-administered combination methods are effective, including injection, implant and gel methods of administration, with up to 95% of men achieving sufficient spermatogenic suppression. New steroids are also being trialled. Surveys show the widespread willingness of men and their female partners to use novel male methods, suggesting the potential of this approach to contribute to global family planning and sustainable development goals. This approach to contraception can clearly be effective, and needs to move from relatively small scale testing to large scale pre-marketing trials: only then can information about long-term safety and real-world acceptability be obtained.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"97 ","pages":"Article 102559"},"PeriodicalIF":3.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142334263","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}

{"title":"The roles of blood picture, haemoglobinopathy traits, and blood groups determined in routine antenatal tests in the screening for complications in pregnancy","authors":"Terence T. Lao","doi":"10.1016/j.bpobgyn.2024.102537","DOIUrl":"10.1016/j.bpobgyn.2024.102537","url":null,"abstract":"<div><div>Routine antenatal tests include haemoglobin measurement, usually with red blood cell indices, white cell and platelet counts, and ABO and Rhesus blood groups, are aimed to screen for iron deficiency anaemia, carriage of haemoglobinopathy traits, and other forms of anaemia or other underlying but undiagnosed conditions. Iron deficiency anaemia has been associated with most of the common pregnancy complications including pre-eclampsia, preterm birth, antepartum and postpartum haemorrhage, low birthweight and small-for-gestational age infants, and impacts long-term neurocognitive and developmental outcomes in the offspring. Increased adverse pregnancy and perinatal outcomes are also found with high haemoglobin, thalassaemia and sickle cell traits, and the non-O blood groups especially group AB. Total white cell, neutrophil, and platelet counts and platelet indices can help to predict gestational diabetes mellitus. Results from these tests can be useful by themselves or used in combination with demographics and biomarkers to enhance the screening for high-risk pregnancies.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"97 ","pages":"Article 102537"},"PeriodicalIF":3.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142482864","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}

{"title":"Reframing antepartum and intrapartum surveillance","authors":"Lawrence D. Devoe ,&nbsp;David W. Britt ,&nbsp;Mark I. Evans","doi":"10.1016/j.bpobgyn.2024.102538","DOIUrl":"10.1016/j.bpobgyn.2024.102538","url":null,"abstract":"<div><div>The original goal of electronic fetal monitoring was to reduce stillbirths. It worked. Then the mission expanded to reducing neurologic impairment including cerebral palsy. Despite 50 years’ experience, the data have been contradictory, and even the key opinion leaders of EFM admit it an only detect about half the problems. Concomitantly, the cesarean delivery rate which has greater complications and costs has increased about 6-fold. Here we review multiple generations of antenatal testing schemes having increasing sophistication but still not too much improvement in outcomes and our re-engineered approach to intrapartum fetal monitoring for which we morph from the subjective Category system which has poor statistical performance metrics to a new approach we call the “Fetal Reserve Index.” The FRI breaks down the tracing into 4 quantifiable components (fetal heart rate, variability, accelerations, and decelerations) and then formally adds to the analysis the presence of increased uterine activity, and maternal, fetal, and obstetrical risk factors. In version 1.0, all parameters are weighted equally. We have shown improved and earlier identification of fetal risk earlier in the pathophysiology allowing less abrupt and dramatic interventions. We have further shown the early postpartum period to be one of commonly unrecognized risks, and we envision a continuum of assessment from antepartum through intrapartum and postpartum for optimal results.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"97 ","pages":"Article 102538"},"PeriodicalIF":3.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142585109","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}

{"title":"Intimate partner violence during pregnancy: To screen or not to screen?","authors":"Janet Yuen-Ha Wong ,&nbsp;Shiben Zhu ,&nbsp;Haixia Ma ,&nbsp;Patrick Ip ,&nbsp;Ko Ling Chan ,&nbsp;Wing Cheong Leung","doi":"10.1016/j.bpobgyn.2024.102541","DOIUrl":"10.1016/j.bpobgyn.2024.102541","url":null,"abstract":"<div><p>Intimate partner violence (IPV) during pregnancy emerges as a compelling and urgent concern within the domain of public health, casting a long shadow over a substantial cohort of women. Its pernicious consequences extend beyond the individual, enveloping the well-being of both the mother and the fetus, giving rise to an elevated risk of preterm birth, low birth weight, fetal harm, and maternal psychological distress, including depression, anxiety, post-traumatic stress disorder, and, tragically, maternal mortality. Despite the prevalence of IPV being comparable to other conditions like gestational diabetes and preeclampsia, a universal screening protocol for IPV remains absent globally. We reviewed the clinical guidelines and practices concerning IPV screening, painstakingly scrutinizing their contextual nuances across diverse nations. Our study unveils multifaceted challenges of implementing universal screening. These hurdles encompass impediments to victim awareness and disclosure, limitations in healthcare providers' knowledge and training, and the formidable structural barriers entrenched within healthcare systems. Concurrently, we delve into the potential biomarkers intricately entwined with IPV. These promising markers encompass inflammatory indicators, epigenetic and genetic influences, and a diverse array of chemical compounds and proteins. Lastly, we discussed various criteria for universal screening including (1) valid and reliable screening tool; (2) target population as pregnant women; (3) scientific evidence of screening programme; and (4) integration of education, testing, clinical services, and programme management to minimise the challenges, which are paramount. With the advancement of digital technology and various biomarkers identification, screening and detecting IPV in clinical settings can be conducted systemically. A systems-level interventions with academia-community-indutrial partnerships can help connect pregnant women to desire support services to avoid adverse maternal and child health outcomes.</p></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"97 ","pages":"Article 102541"},"PeriodicalIF":3.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142171831","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}