{"title":"Best Practice & Research clinical obstetrics & gynaecology","authors":"Kate Swanson , Mary E. Norton","doi":"10.1016/j.bpobgyn.2024.102574","DOIUrl":"10.1016/j.bpobgyn.2024.102574","url":null,"abstract":"<div><div>Screening for fetal genetic disorders is a focus of prenatal care. Cell free DNA (cfDNA) screening for aneuploidies became available in 2011. Initially available only to high-risk individuals, this test is now standard of care in many settings. cfDNA screening has expanded to include sex chromosomal aneuploidies, copy number variants, and rare autosomal trisomies. However, the positive predictive value for rarer conditions is significantly lower, the number of conditions tested for is small, and abnormal results may occur due to maternal genetic findings. The field is changing quickly, and national recommendations for the use of cfDNA in screening for fetal and maternal diseases varies internationally. Research on the performance of screening for many different genetic disorders using cfDNA is ongoing, and suggests that this methodology may allow for testing of a much greater number of genetic conditions. Additionally, improved understanding of the cfDNA molecules themselves may provide additional insights: both high and low fetal fractions may suggest adverse pregnancy outcomes, and characteristics of the fragments themselves may help distinguish tissue of origin.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"98 ","pages":"Article 102574"},"PeriodicalIF":3.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142873744","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}
Caroline Frisendahl , Helena Kopp Kallner , Kristina Gemzell-Danielsson
{"title":"The clinical relevance of having more than one estrogen in combined hormonal contraception to address the needs of women","authors":"Caroline Frisendahl , Helena Kopp Kallner , Kristina Gemzell-Danielsson","doi":"10.1016/j.bpobgyn.2024.102571","DOIUrl":"10.1016/j.bpobgyn.2024.102571","url":null,"abstract":"<div><div>This chapter examines the potential of natural estrogens, particularly estradiol and estetrol, in combined hormonal contraceptive pills as alternatives to the widely used synthetic ethinyl estradiol. Current evidence highlights the promise of these natural estrogens in providing effective contraception with improved safety profiles and maintained tolerability.</div></div><div><h3>What we know</h3><div>Estradiol and estetrol exhibit favorable safety and efficacy profiles compared to ethinyl estradiol.</div></div><div><h3>What we think we know</h3><div>Initial studies suggest that estetrol combined with drosperinone provide effective contraception with a predictable bleeding patternand reduced risk for venous thromboembolism compared to ethinyl estradiol containing pills. Such risk may also be further mitigated by non-oral administration of estradiol.</div></div><div><h3>What we do not know</h3><div>Long-term efficacy and safety data are needed to confirm the benefits of natural estrogens and their impact on diverse populations and comorbid conditions. By addressing these gaps, future research can enhance our understanding of natural estrogens in hormonal contraception, ultimately refining their use in clinical practice.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"98 ","pages":"Article 102571"},"PeriodicalIF":3.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142788089","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":"Improving access to emergency obstetric care in low- and middle-income countries","authors":"Lawrence Chauke","doi":"10.1016/j.bpobgyn.2024.102572","DOIUrl":"10.1016/j.bpobgyn.2024.102572","url":null,"abstract":"<div><div>While maternal deaths have declined by a third between 2000 and 2020, approximately 800 women continue to die every day due to pregnancy-related complications. For every woman who dies, many more experience life-debilitating conditions. Most of these deaths occur in low- and middle-income countries (LMICs). Women in Sub-Saharan Africa (SSA) face the highest risk of mortality, with a lifetime risk of dying from pregnancy-related complications estimated at 1 in 40. Given the unpredictable nature of pregnancy complications, emergency obstetric care (EmOC) remains the most effective strategy to reduce the global burden of maternal deaths due to pregnancy related complications. Investing in EmOC can assist countries struggling with high burden of maternal mortality in staying on track toward achieving the United Nations' 2030 Sustainable Development Goals (SDGs). However, LMICs encounter several challenges in accessing these life-saving interventions. This article utilises Thaddeus and Maine's three-delay model to analyse barriers to EmOC in LMICs and to propose potential solutions.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"98 ","pages":"Article 102572"},"PeriodicalIF":3.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142820284","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}
Kirsten I. Black , Maxime Vromman , Rebecca S. French
{"title":"Common myths and misconceptions surrounding hormonal contraception","authors":"Kirsten I. Black , Maxime Vromman , Rebecca S. French","doi":"10.1016/j.bpobgyn.2024.102573","DOIUrl":"10.1016/j.bpobgyn.2024.102573","url":null,"abstract":"<div><div>Numerous community and professional myths and misconceptions around hormonal contraception exist, many promulgated through social media. As a result of these and other factors, people are moving away from hormonal methods and potentially exposing themselves to increased risk of unintended pregnancy. A number of key myths and misconceptions have been identified in a range of papers and here we summarise the evidence around the basis for these misunderstandings. The themes we explore are the physical side effects, the mental health effects, the impact on sexuality, the concerns about infertility, the concept of “unnaturalness”, concerns about menstruation, concerns about safety and destigmatisation of side effects. For many of these themes, there is some evidence justifying the concern, but overall for most people, we argue that the benefits of hormonal contraception outweigh the disadvantages.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"98 ","pages":"Article 102573"},"PeriodicalIF":3.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869797","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}
Matthew A. Shear , Peter N. Robinson , Teresa N. Sparks
{"title":"Fetal imaging, phenotyping, and genomic testing in modern prenatal diagnosis","authors":"Matthew A. Shear , Peter N. Robinson , Teresa N. Sparks","doi":"10.1016/j.bpobgyn.2024.102575","DOIUrl":"10.1016/j.bpobgyn.2024.102575","url":null,"abstract":"<div><div>Genetic tests available in the prenatal setting have expanded rapidly with next generation sequencing, and fetal imaging can detect a breadth of many structural and functional abnormalities. To identify a fetal genetic disease, deep phenotyping is increasingly important to generate a differential diagnosis, choose the most appropriate genetic tests, and inform the results of those tests. The Human Phenotype Ontology (HPO) organizes and defines the features of human disease to support deep phenotyping, and ongoing efforts are being made to improve the scope of the HPO to comprehensively include fetal phenotypes. There are important limitations of fetal phenotyping to understand, including ongoing structural development and limited knowledge of how many genetic diseases present uniquely <em>in utero</em>. This article provides an overview of the use of HPO terms and artificial intelligence in the approach to fetal phenotyping and genetic testing.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"98 ","pages":"Article 102575"},"PeriodicalIF":3.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142911347","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":"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":"2024-12-01","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}
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":"2024-12-01","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}
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":"2024-12-01","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}
{"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":"2024-12-01","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}