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The process of screening aims to reduce the burden of disease. In pregnancy this is relevant to both the mother and her baby. There are national screening programmes for infectious disease, haemoglobinopathy and fetal anomalies, all of which have the potential to reduce the life-long burden of disease in the newborn. But screening extends beyond these programmes and when risk factors are identified, interventions might be instigated to reduce the impact of disease on pregnancy outcomes. This article reviews screening in its broadest sense. It describes the various screening opportunities and considers the actions that can be taken to optimize the health of the mother and her baby. The process of screening continues throughout pregnancy, in the same way that risks evolve as pregnancy progresses. [ABSTRACT FROM AUTHOR]

The previous lack of national UK guidance on the use of Prenatal and Pre-implantation Genetic Testing (PND and PGT-M) for Monogenic Disorders for Germline Cancer Susceptibility Gene Variants (gCSGV) has led to disparities in care across the UK, and inequitable access to reproductive options for families living with cancer susceptibility syndromes. In 2023, the UK Cancer Genetics Group and Fetal Genomics Group of the British Society of Genetic Medicine developed joint consensus guidance seeking to provide healthcare professionals with a clear counselling framework to support individuals/couples during their reproductive decision-making process. The guidance is for healthcare professionals, individuals and couples with a gCSGV and their families, policy makers and charities supporting people with cancer susceptibility syndromes. Details about the consensus group participants, the main workshop's format, and the pre- and post-workshop nationwide surveys, are available in the full document. [ABSTRACT FROM AUTHOR]

Cell-free fetal DNA (cffDNA) can be detected in the maternal circulation from 4 weeks gestation, and is present with cell-free maternal DNA at a level of between 5 % and 20 %. Cell-free DNA (cfDNA) can be extracted from a maternal blood sample and, although it is not possible to separate the fetal from the maternal cfDNA, it has enabled non-invasive prenatal diagnosis (NIPD) without the associated miscarriage risk that accompanies invasive testing. NIPD for monogenic diseases was first reported in 2000 and since then there have been many proof of principle studies showing how analysis of cfDNA can provide a definitive diagnosis early in pregnancy for a wide range of single gene diseases. Testing for a number of these diseases has been available in the UK National Health Service (NHS) since 2012. This review highlights the main techniques that are being used for NIPD and discusses the technical limitations of the methods, as well as the advances that are being made to overcome some of the issues. NIPD is technologically challenging for a number of reasons. Firstly, because it requires the detection of low level fetal variants in a high maternal background. For de novo and paternally-inherited variants this has been achieved through the use of techniques such as next-generation sequencing (NGS) and digital PCR to detect variants in the cffDNA that are not present in the maternal cfDNA. However, for maternally-inherited variants this is much more challenging and relies on dosage-based techniques to detect small differences in the levels of mutant and wild-type alleles. Alongside the technical advances that are making NIPD more widely available in both the public healthcare and commercial settings, it is crucial that we continue to monitor the social and ethical impact to ensure that patients are being offered safe and accurate testing. [ABSTRACT FROM AUTHOR]

Multiple pregnancies account for 1.5% of pregnancies in the UK and both aneuploidies and structural anomalies occur more frequently in twins, compared to singletons. Comprehensive, individualised counselling is key in these challenging situations, requiring clinicians to communicate their knowledge of prenatal screening effectively. Prenatal screening and diagnosis is not straightforward in multiple pregnancies with variable performance of screening tests, choices to be made on diagnostic techniques and sampling, limited robust data on procedure-related risks and potentially complex decision-making in light of results. In this article we will address these issues and provide an up-to-date evidence summary derived from national guidance and published literature. [ABSTRACT FROM AUTHOR]

With increasing facilities for antenatal diagnosis, lowering gestation for intiation of intensive care, palliative care in the perinatal period is increasingly recognized as a specialist area. There have been standards and pathways developed in the UK that provides guidance to health professionals. Providing holistic perinatal palliative care depends on close multiprofessional working between the neonatal team and the palliative care professionals who are being integrated into the core neonatal services. Even though most neonates will continue to receive end of life care within the NICU, there are increasing number of families who choose to have end of life care either at home or a hospice. There is a need to develop services across the regions to provide equitable access to excellent clinical care as well as ongoing support to families following loss of a neonate. This short article explores the issues raised in the provision of palliative care in the perinatal period and offers practical guidance for paediatricians in this emerging area. [ABSTRACT FROM AUTHOR]

Aim: To estimate the rate of unexpected brain abnormalities detected by in utero magnetic resonance imaging (iuMRI) in fetuses without abnormalities at ultrasonography (USS).Materials and Methods: A prospective cohort study of pregnant women whose fetus had no structural brain (or body) abnormalities recognised on antenatal ultrasonography. Women were recruited from 12 centres across the UK and underwent iuMRI at 18 gestational weeks or more in the [blinded for review]. The imaging studies were reviewed by an experienced neuroradiologist. The positive and negative predictive values of both USS and iuMRI have been calculated by combining the results of this study with the results from the main [blinded for review] study.Results: One hundred and ninety-eight pregnant women were recruited and underwent iuMRI of 205 fetuses. Brain abnormalities were shown on iuMRI in two fetuses that were not recognised on USS (one case of a focal cortical abnormality and one case of mild ventriculomegaly). The negative predictive value for USS was 99.5% and 100% for iuMRI.Conclusions: To the authors' knowledge, this is the first study comparing USS and iuMRI in low-risk pregnancies. USS has a comparatively high rule-out for fetal brain abnormalities and should remain the screening tool of choice. [ABSTRACT FROM AUTHOR]

The Fetal Anomaly Screening Programme (FASP) is a national antenatal screening programme, responsible for two screening pathways: Down's syndrome, Edwards' syndrome, Patau's syndrome and 11 physical conditions at the 18–20 week scan. The core aim is to provide parents with information that supports their choices and values. In the last 19 years screening performances have improved significantly by defining a standardized approach, refining the tests offered, developing e-learning, supporting sonographers and laboratories with a quality assurance programme (Down's syndrome screening Quality Assurance Support Service) and auditing screening performance through the National Congenital Anomaly and Rare Diseases Registration Service. In 2021 FASP will implement non-invasive prenatal testing (NIPT) to screen for T21, T18 and T13 only. This will improve the choices offered to women and reduce the number of women having invasive prenatal diagnosis. In addition FASP is working with the National Institute for Health Research to potentially develop standards for evaluating specific fetal anomalies at 11–14 weeks. [ABSTRACT FROM AUTHOR]

Down screening has been available within clinical practice for over 50 years during which time significant innovation and exciting new advances have improved the accuracy and safety of screening, and improved choice for women who are considering antenatal screening for Down syndrome. The UK National Screening Committee is responsible for setting the national standards regarding screening and it has steadily and consistently directed and facilitated an increase in the detection rate whilst minimising the screen positive rate of Down syndrome screening. This has reduced the number of false positive results and consequently the number of invasive diagnostic procedures and their related miscarriages. Non-invasive pre-natal testing (NIPT) using cell free DNA is a rapidly evolving field and it will soon be incorporated into the existing NHS antenatal screening programme for aneuploidy. It will be offered to women who receive a ‘high risk’ result following current screening methods (combined test or quadruple test), and will further reduce the number of invasive tests performed, whilst maintaining current detection rates. [ABSTRACT FROM AUTHOR]

‘Experiential knowledge’ is increasingly recognised as an important influence on reproductive decision-making. ‘Experiential knowledge of disability’ in particular is a significant resource within prenatal testing/screening contexts, enabling prospective parents to imagine and appraise future lives affected by disability. However, the concept of ‘experiential knowledge’ has been widely critiqued for its idiosyncrasy, its impermanence and consequently its perceived inferiority to (medical) knowledge. This paper explores some of these key critiques of experiential knowledge through an analysis of its constitution and uses in the context of reproductive decision-making. Seventeen UK-resident women with Spinal Muscular Atrophy (SMA), or with SMA in their family, took part in two in-depth interviews: one in 2007–9 and the other in 2013–4. By comparing and contrasting these women's accounts at two time points, this paper demonstrates the stark contrast between ‘lived experience’ of SMA (the visceral everyday realities of life with the condition) and the various way(s) this experience was transformed into, and presented as, ‘knowledge’ through the processes of making, and accounting, for reproductive decisions. The analysis highlights that multiple, distinct and sometimes competing experiential frameworks are used to conceptualise SMA across time and context. However, rather than evidence of its fallibility, this finding highlights that ‘knowledge’ is an inappropriate vessel with which to capture and transfer ‘experiential knowledge’. Rather, we need to consider how to value such insight in ways that harnesses its inherent strength without leaving it vulnerable to the epistemological critiques attracted by labelling it ‘knowledge’. [ABSTRACT FROM AUTHOR]

Hypoplastic left heart syndrome is a rare congenital heart defect in which the left-sided heart structures are underdeveloped, such that the left ventricle is unable to support the systemic circulation. It is almost always lethal without surgical treatment, and if left untreated would account for around 25–40% of neonatal cardiac deaths in the United Kingdom. Complex neonatal surgery to enable the right ventricle to support the circulation (the Norwood Procedure) has transformed management of the condition, but requires three staged procedures during early childhood. Management of these patients into adulthood will offer new challenges. Transplantation for this condition remains rare, and is reserved for those in which conventional treatment has failed. In this review article, we discuss epidemiology, genetics, morphology, pathophysiology, prenatal diagnosis, modes of clinical presentation, and management strategies in this challenging condition. [ABSTRACT FROM AUTHOR]

Abstract: There has been a striking growth in the availability of health-related information based on personal experience in recent years and internet users are often drawn towards other people’s stories about their health. Accounts of other people’s experiences might convey social and emotional information that is not otherwise available but little is known about how it is used or the implications of its use in practice. This paper examines how people refer to information about other people’s experiences when accounting for decisions about antenatal diagnostic testing for foetal abnormality. We conducted a secondary analysis of 37 qualitative interviews undertaken across the UK with 36 women and nine of their male partners (eight couples were interviewed together) who talked about diagnostic testing for foetal abnormality in 55 pregnancies. When describing their decisions, respondents referred to examples of knowledge gleaned from their own and other individuals’ experiences as well as information based on biomedical or clinical-epidemiological research (usually about the probabilities of having a child affected by health problems or the probability of diagnostic tests causing miscarriage). Both forms of knowledge were employed in people’s accounts to illustrate the legitimacy and internal coherence of decisions taken. The analysis demonstrates the personally idiosyncratic ways that people reflect on and incorporate different types of information to add meaning to abstract ideas about risk, to imagine the consequences for their own lives and to help them to make sense of the decisions they faced. [Copyright &y& Elsevier]

Adenylosuccinate lyase deficiency is an autosomal recessive disorder of purine metabolism resulting from mutations in the ADSL gene on chromosome subband 22q13.1 and associated with a wide range of clinical manifestations. Although there is currently no effective treatment of ADSL deficiency, recognition of the condition is important, because prenatal genetic diagnosis can be offered to affected families. Reported here are the cases of the only three children diagnosed to date in the United Kingdom with adenylosuccinate lyase deficiency, to further delineate the clinical phenotype and to raise awareness of this disorder. [ABSTRACT FROM AUTHOR]

Abstract: The incidence of both the under-18 conception rate and birth rate is falling. Despite this however, the United Kingdom has the highest rate of teenage pregnancy in Western Europe. Young mothers and their babies have poorer access to maternity care and experience worse obstetric outcomes than older mothers. It is likely that the risks associated with teenage pregnancy reflect a significant interplay between the socio-demographic status of many of these teenagers, their nutritional status and their uptake of antenatal care. This review looks at the complications associated with teenage pregnancy and how the implementation of specialized antenatal care aims to achieve similar obstetric outcomes to those of the older mother. It also looks at additional factors required in the provision of healthcare to this group of young women. In providing this care, the quality of life and outcome for both mother and her child can be improved. [Copyright &y& Elsevier]

Abstract: Objectives: The aim of this study was to update the incidence data of beta thalassaemia mutations in various populations and compare it to the spectrum of mutations in the United Kingdom (UK) population in order to determine the impact of immigration. Design and methods: Published data for the β-thalassaemia mutation spectrum and allele frequencies for 60 other countries was updated and collated into regional tables. The β-thalassaemia mutations in the UK population have been characterised in 1712 unrelated carriers referred for antenatal screening. Similarly, the α-thalassaemia mutations in the UK population have been characterised in 2500 possible α-thalassaemia carriers. Results: A total of 68 different β-thalassaemia mutations were identified in couples requiring screening for antenatal diagnosis in the UK population. Of these mutations, 59 were found in immigrants to the UK, from all major ethnic groups with a high incidence of haemoglobinopathies. A total of 40 different α-thalassaemia mutations were characterised in the UK population. Ten deletion mutations were identified, including all the Southeast Asian and Mediterranean α0-thalassaemia mutations. In addition, 30 non-deletion α+-thalassaemia mutations were discovered, accounting for 46% of the worldwide known non-deletion mutations. Conclusions: The impact of immigration has resulted in the UK population having a higher number of β-thalassaemia mutations and α-thalassaemia mutations than any of the 60 other countries with a published spectrum of mutations, including both endemic countries and the non-endemic countries of Northern Europe. The racial heterogeneity of the immigrant population in a non-endemic country significantly increases the spectrum of haemoglobinopathy mutations and their combinations found in individuals, making the provision of a molecular diagnostic prenatal diagnosis service more challenging. [Copyright &y& Elsevier]

Ultrasound examinations for foetal brain abnormalities have been a part of the routine antenatal screening programme in the UK for many years. In utero brain magnetic resonance imaging (MRI) is now being used increasingly successfully to clarify abnormal ultrasound findings, often resulting in a change of diagnosis or treatment plan. Interpretation requires an understanding of foetal brain development, malformations and acquired diseases. In this paper we will outline the technique of foetal MRI, relevant aspects of brain development and provide illustrated examples of foetal brain pathology. [Copyright &y& Elsevier]

Abstract: Through the lens of the ‘welfare of the child’ assessment, this paper explores how staff working in the area of in vitro fertilisation and preimplantation genetic diagnosis (IVF/PGD) balance reflexive relations of legitimacy and accountability between the public and private spheres, and between medicine, the citizen and the state. The wider research of which this analysis is a part uses multiple methods to study two National Health Service Assisted Conception Units in England. Research methods used included observation clinics and interviews with staff from a range of disciplines. We illustrate how the staff reveal tensions between their views that the welfare of the child assessment can be seen as intrusive and discriminatory, and on the other hand that medical intervention in reproduction should be socially and professionally accountable. These tensions can be understood sociologically in terms of a gradual movement from socially based solutions to fertility problems and disabilities, towards a biomedical, and arguably genetically oriented worldview of such problems. Rather than being viewed as discrete, these two orientations should be seen as indicating an emergent direction of travel along a continuum, with elements of both being present in the accounts. We argue that consideration of the welfare of the child involves staff in ethical boundary-work across the two orientations and between the accountabilities and responsibilities of healthcare professionals, individuals and the state. [Copyright &y& Elsevier]

Abstract: The aims of antenatal anaesthetic assessment are to: identify problems or potential problems; arrange investigations; refer to specialists for advice and/or treatment; institute treatment; discuss options for analgesia in labour and/or anaesthesia for operative delivery; formulate a management plan; and highlight special requirements (e.g. latex-free equipment, extra staff, intensive care bed). In the UK, few, if any, units have the manpower to assess every pregnant woman, therefore attention is targeted at high-risk patients. [•] The number of parturients with pre-existing disease is thought to be increasing owing to better management of their underlying condition and of their pregnancy and delivery. It is important to tailor a plan to their individual needs and this is best done antenatally. [•] Arrangements for antenatal anaesthetic assessment vary from ad hoc calls from the antenatal clinic to regular, formal, anaesthetic clinics. Some units have combined clinics with obstetricians and other specialists. Setting up and running an antenatal anaesthetic assessment service is discussed and a sample antenatal anaesthetic assessment record is provided. [•] A checklist is given of those who should be referred for antenatal anaesthetic assessment. Women may have musculoskeletal problems, ranging from back pain to scoliosis, and may be concerned about having an epidural. Other problems covered include cardiac disease, haematological problems, previous anaesthetic problems, neurological conditions, respiratory problems (e.g. asthma), allergic reactions, obesity and needle phobia. [Copyright &y& Elsevier]

Objective: The objective of this study was to explore the relationship between the number of antenatal visits made by a representative sample of British women and adverse perinatal outcomes. Study design: A total of 20,771 women with a singleton pregnancy were recruited from nine representative maternity units in Northern England and North Wales. A record of each woman’s antenatal care and the adverse perinatal outcomes of interest were extracted retrospectively from their case notes. Multivariate binomial regression was used to model the probability of adverse outcomes with respect to the absolute number of antenatal visits, after controlling for potentially confounding factors. Separate analyses were performed for primiparae and multiparae, and for low- and high-risk women within each parous group. Results: The study revealed an inverse association between the number of antenatal visits and delivery of a low birthweight infant, infant admission to a special care baby unit and perinatal mortality over the 4–14 antenatal visit range, which dissipated at higher levels of antenatal visits. The study also revealed a significant positive association between the number of antenatal visits and delivery by caesarean section (P<0.01). Similar trends in the probabilities of adverse outcomes were observed for low- and high-risk women within each parous group. Conclusion: Further experimental research is required to ascertain whether a causal relationship exists between antenatal visiting schedules and adverse perinatal outcomes. [Copyright &y& Elsevier]

The aim of this prospective study is to assess the reliability and validity of a multi-dimensional measure of informed choice (MMIC). Participants were 225 pregnant women in two general hospitals in the UK, women receiving low-risk results following serum screening for Down syndrome. The MMIC was administered before testing and the Ottawa Decisional Conflict Scale was administered 6 weeks later. The component scales of the MMIC, knowledge and attitude, were internally consistent (alpha values of 0.68 and 0.78, respectively). Those who made a choice categorised as informed using the MMIC rated their decision 6 weeks later as being more informed, better supported and of higher quality than women whose choice was categorised as uninformed. This provides evidence of predictive validity, whilst the lack of association between the MMIC and anxiety shows construct (discriminant) validity. Thus, the MMIC has been shown to be psychometrically robust in pregnant women offered the choice to undergo prenatal screening for Down syndrome and receiving a low-risk result. Replication of this finding in other groups, facing other decisions, with other outcomes, should be assessed in future research. [Copyright &y& Elsevier]

Explores the difficulties encountered by health practitioners about nondirectiveness within the context of antenatal screening and testing in Great Britain. Principles of nondirectiveness; Changes in the delivery of the organizational aspects of antenatal screening; Gap between choice and coercion.

Abstract: Regional congenital anomaly registers, while monitoring fewer than 50% of births in England and Wales, contribute almost 80% of the annual data entered into the National Congenital Anomaly System, with a notification rate over four times that from non-register areas. They employ multiple sources of ascertainment, producing high-quality data. This contrasts sharply with known deficiencies in a national system largely dependent on birth notifications. Details of anomalies in pre-24-week gestation deliveries and antenatal soft markers are unavailable from any other source. Members of the British Isles Network of Congenital Anomaly Registers contribute data to national, European and worldwide anomaly surveillance systems, pooling data on rare anomalies for research and providing valuable information for counselling, clinical management and audit. However, large areas of the UK remain outside register coverage, and most existing registers depend on precarious funding. Despite their acknowledged value, their long-term future is far from secure. [Copyright &y& Elsevier]