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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]

Introduction: Vasa previa (VP), defined as unprotected fetal vessels traversing the membranes over the cervix, is associated with a high perinatal mortality when undiagnosed prenatally. Conversely, prenatal diagnosis with ultrasound and cesarean delivery before the membranes rupture is associated with excellent outcomes. However, controversy exists regarding screening for VP. In the UK, routine screening for VP is not recommended. The objective of this study was to report the incidence of VP and our experience in the detection of VP with a universal screening protocol at the time of the second‐trimester fetal anomaly scan with third‐trimester confirmation in an unselected population of pregnancies. Material and methods: We performed a single‐center historical cohort study of all pregnant women who underwent routine second‐trimester anomaly screening scans at West Middlesex University Hospital, London, UK, between 2012 and 2016. Over 5 years, every patient undergoing routine anomaly screening was evaluated for VP using a systematic protocol during their 20‐week anomaly scan. Suspected cases of VP were rescanned in the third trimester by specialist sonographers with an interest in VP. The primary outcomes were the incidence and detection of VP. Results: During the study period, 24 690 anatomy scans were performed. A total of 64 patients were identified as having potential VP at the second‐trimester anomaly screening scan, of which 19 were confirmed by the specialist sonographer in the third trimester and at delivery. The screen positive rate was 0.26% (95% confidence interval [CI] 0.20%–0.32%). VP at birth was found in 19/24690 births (1:1299 [95% CI: 1:832–1:2030] births). Universal screening for VP using our protocol had a sensitivity of 100% and a specificity of 99.78% (95% CI: 99.72%–99.84%). The false‐positive rate of the second‐trimester screen was 0.18% (95% CI: 0.13–0.24). There were no false positives or false negatives at delivery. Of the 19 patients with confirmed VP, 17 had scheduled cesarean deliveries, and two required emergency deliveries due to antepartum hemorrhage. One baby died, giving a perinatal mortality of 5%. Conclusions: VP complicates approximately 1:1300 pregnancies. Routine screening for VP yielded a 100% detection rate. We suggest the inclusion of structured VP assessment in standard fetal anomaly screening programs. [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]

Objectives: As part of the FERN feasibility study, this qualitative research aimed to explore parents' and clinicians' views on the acceptability, feasibility and design of a randomised controlled trial (RCT) of active intervention versus expectant management in monochorionic (MC) diamniotic twin pregnancies with early-onset (prior to 24 weeks) selective fetal growth restriction (sFGR). Interventions could include laser treatment or selective termination which could lead to the death or serious disability of one or both twins., Design: Qualitative semi-structured interviews with parents and clinicians. Data were analysed using reflexive thematic analysis and considered against the Principles of Biomedical Ethics., Participants and Setting: We interviewed 19 UK parents experiencing (six mothers, two partners) or had recently experienced (eight mothers, three partners) early-onset sFGR in MC twin pregnancy and 14 specialist clinicians from the UK and Europe., Results: Participants viewed the proposed RCT as 'ethically murky' because they believed that the management of sFGR in MC twin pregnancy should be individualised according to the type and severity of sFGR. Clinicians prioritised the gestational age, size, decrease in growth velocity, access to the placental vessels and acceptability of intervention for parents. Discussions and decision-making about selective termination appeared to cause long-term harm (maleficence). The most important outcome for parents and clinicians was 'live birth'. For clinicians, this was the live birth of at least one twin. For parents, this meant the live birth of both twins, even if this meant that their babies had neurodevelopmental impairment or disabilities., Conclusions: All three pregnancy management approaches for sFGR in MC twin pregnancy carry risks and benefits, and the ultimate goal for parents is to receive individualised care to achieve the best possible outcome for both twins. An RCT was not acceptable to parents or clinicians or seen as ethically appropriate. Alternative study designs should be considered to answer this important research question., Competing Interests: Competing interests: National Institute for Health Research (NIHR) Health Technology Assessment (HTA) Programme grant payments were made to the institutions of all authors (except REA, NF and SL). TKM and MP employment roles were funded by the NIHR HTA programme grant payment made to their institution., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.)

Objectives: UK single ventricle (SV) palliation outcomes after first postnatal procedure (FPP) are well documented. However, survival determinants from fetal diagnosis to FPP are lacking. To better inform parental-fetal counselling, we examined factors favouring survival at two large UK centres., Design: Retrospective multicentre cohort study., Setting: Two UK congenital cardiac centres: Leeds and Birmingham., Patients: SV fetal diagnoses from 2015 to 2021., Main Outcome Measures: Survival from fetal diagnosis with intention to treat (ITT) to birth and then FPP. Maternal, fetal and neonatal risk factors were assessed., Results: There were 666 fetal SV diagnoses with 414 (62%) ITT. Of ITT, 381 (92%) were live births and 337 (81%) underwent FPP. Survival (ITT) to FPP was notably reduced for severe Ebstein's 14/22 (63.6%), unbalanced atrioventricular septal defect 32/45 (71%), indeterminate SV 3/4 (75%), mitral atresia 8/10 (80%) and hypoplastic left heart syndrome 127/156 (81.4%). Biventricular pathway was undertaken in five (1%). After multivariable adjustment, prenatal risk factors for mortality were increasing maternal age (OR 1.05, 95% CI 1.0 to 1.1), non-white ethnicity (OR 2.6, 95% CI 1.4 to 4.8), extracardiac anomaly (OR 6.34, 95% CI 1.8 to 22.7) and hydrops (OR 7.39, 95% CI 1.2 to 45.1). Postnatally, prematurity was significantly associated with mortality (OR 6.3, 95% CI 2.3 to 16.8)., Conclusions: Around 20% of ITT fetuses diagnosed with SV will not reach FPP. Risk varies according to the cardiac lesion and is significantly influenced by the presence of an extracardiac anomaly, fetal hydrops, ethnicity, increasing maternal age and gestation at birth. These data highlight the need for fetal preprocedure data to be used in conjunction with procedural outcomes for fetal counselling., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)