BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY

Common myths and misconceptions surrounding hormonal contraception
Black KI, Vromman M and French RS
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.
Preface: Emergency obstetrics in low- and middle-income countries
Ngene NC and Moodley J
Best Practice & Research clinical obstetrics & gynaecology
Swanson K and Norton ME
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.
Fetal imaging, phenotyping, and genomic testing in modern prenatal diagnosis
Shear MA, Robinson PN and Sparks TN
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 in utero. This article provides an overview of the use of HPO terms and artificial intelligence in the approach to fetal phenotyping and genetic testing.
Considerations for hormonal contraception and people with larger bodies
Tasset J and Edelman A
People with larger bodies face discrimination in accessing health care, including equitable contraceptive care. Conscientious provision of person-centered contraception counseling is consistent with principles of the Health at Every Size and the Reproductive Justice movements. One facet of this care includes integration of evidence around unique considerations for steroid hormone efficacy and safety for patients with bigger bodies. Ultimately, this information should be used to empower and support reproductive decision making amongst patients of larger body sizes.
Arterial stiffness in gestational diabetes: Latest insights
Anness AR, Khalil A and Mousa HA
Increased arterial stiffness is a known cardiovascular risk factor, associated with hypertension and acute coronary events. Gestational diabetes (GDM) is associated with the development of placental-mediated disorders and future cardiovascular morbidity, raising the possibility of an association with increased arterial stiffness (AS). Several studies have now investigated this association through the assessment of pulse wave velocity and augmentation index. In the current review, we present the latest evidence regarding the changes in arterial stiffness in pregnancies complicated by GDM, before the onset of clinical disease, during its course, and after its resolution. We also review the evidence that AS could influence the need for different treatments for GDM, and the impact that the treatments, and in particular, metformin, could have on arterial stiffness.
Improving access to emergency obstetric care in low- and middle-income countries
Chauke L
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.
The clinical relevance of having more than one estrogen in combined hormonal contraception to address the needs of women
Frisendahl C, Kallner HK and Gemzell-Danielsson K
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.
Egg freezing for young women: A new dawn for reproductive autonomy?
De Proost M, Johnston M and Mertes H
Egg freezing has become increasingly popular in the past fifteen years. Some experts have hailed it as revolutionary and present it as an answer to young women's problem of aligning their reproductive lifespan with other goals and events in life, likening it to the contraceptive pill. Others, however, are more sceptical, seeing it more as a case of exploitation of a vulnerable group of women and medicalization of societal problems. This review critically examines the portrayed benefits of egg freezing through two lines of enquiry: whether egg freezing is a viable reproductive option (the individual level), and whether it effectively increases gender equality (the collective level), hereby also focussing on the critique that it is the wrong kind of answer, namely a medical answer to a social problem. We conclude that although egg freezing can benefit reproductive autonomy, is not the liberating reproductive revolution it is sometimes made out to be.
Early medical abortion
Cameron ST
Early medical abortion (EMA) with mifepristone and misoprostol is expanding access to safe abortion across the world. The drug regimen has changed and the steps involved in EMA have been significantly simplified since EMA was first introduced over 35 years ago. Evidence shows that women can safely self-administer both mifepristone and misoprostol themselves at home and self-manage the procedure including confirming the success of the procedure with a self-performed pregnancy test. Telemedicine has expanded access to EMA and evidence shows that it is associated with similar outcomes to traditional models of delivery and is acceptable to both women and clinicians. Further research is required to optimise the analgesic regimen for EMA. Greater efforts are required to expand availability of medical abortion at home at both very early gestations (less than 6 weeks) and up to the end of the first trimester. More evidence is needed to develop guidelines to support provision in remote settings.
Fetal therapies - (Stem cell transplantation; enzyme replacement therapy; in utero genetic therapies)
Sagar R and David AL
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.
Post pregnancy family planning in Latin America and the Caribbean analysis and strengths in training on immediate contraception post obstetric event by CLAP/PAHO
Gómez Ponce de León R, Lombardo CF, Dilascio F, Perrotta G, León CA and Serruya SJ
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. CONCLUSION: There was evidence of the need for ICPOE training, and the innovative virtual courses developed by PAHO.
Genome sequencing in the prenatal diagnosis of structural malformations in the fetus
Chau MHK, Choolani M, Dong Z, Cao Y and Choy KW
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.
The road to hormonal male contraception: End in sight?
Anderson RA and Reynolds-Wright JJ
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.
Effects of hormonal contraception on mood and sexuality
Bitzer PEJ
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. 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). 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.
The roles of blood picture, haemoglobinopathy traits, and blood groups determined in routine antenatal tests in the screening for complications in pregnancy
Lao TT
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.
Editorial
Lao T
Reframing antepartum and intrapartum surveillance
Devoe LD, Britt DW and Evans MI
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.
Prenatal detection of copy number variants
Wafik M, Pendlebury-Watt A, Price K, Tomlinson C, Fowler E, Chandler N and Holder-Espinasse M
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. 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.
Intimate partner violence during pregnancy: To screen or not to screen?
Wong JY, Zhu S, Ma H, Ip P, Chan KL and Leung WC
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.
Surgical treatment of endometriosis - Controversies: Preface
Ceccaroni M and Barra F