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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]