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.

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.

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.

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.

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.

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.

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. 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). 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. 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.