Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

The CASPAR study protocol. Can cervical stiffness predict successful vaginal delivery after induction of labour? a feasibility, cohort study.

Background: Induction of labour (IOL) is a common obstetric intervention in the UK, affecting up to 33% of deliveries. IOL aims to achieve a vaginal delivery prior to spontaneous onset of labour to prevent harm from ongoing pregnancy complications and is known to prevent stillbirths and reduce neonatal intensive care unit admissions. However, IOL doesn't come without risk and overall, 20% of mothers having an induction will still require a caesarean section birth and in primiparous mothers this rate is even higher.

Variations and Opportunities in Postnatal Management of Hemolytic Disease of the Fetus and Newborn.

Importance: Preventive efforts in pregnancy-related alloimmunization have considerably decreased the prevalence of hemolytic disease of the fetus and newborn (HDFN). International studies are therefore essential to obtain a deeper understanding of the postnatal management and outcomes of HDFN. Taken together with numerous treatment options, large practice variations among centers may exist.

Effects of strategies to tackle racism experienced by healthcare professionals: a systematic review.

Objectives: The objective of this study is to evaluate the effect of equality, diversity and inclusion (EDI) training interventions on race inequalities experienced by healthcare professionals.

Design: Systematic review.

Data Sources: Cochrane, MEDLINE and Embase databases were searched from database inception to February 2024.

Longitudinal Twin Growth Discordance Patterns and Adverse Perinatal Outcomes.

Objective: The objective of this study was to conduct a longitudinal assessment of inter-twin growth and Doppler discordance, to identify possible distinct patterns, and to investigate the predictive value of longitudinal discordance patterns for adverse perinatal outcomes in twin pregnancies.

Methods: This retrospective cohort study included twin pregnancies followed and delivered at a tertiary University Hospital in London (UK), between 2010 and 2023. We included pregnancies with at least three ultrasound assessments after 18 weeks and delivery after 34 weeks' gestation.

A qualitative exploration of women's expectations of birth and knowledge of birth interventions following antenatal education.

Background: Expectations of birth, and whether they are met, influence postnatal psychological wellbeing. Intrapartum interventions, for example induction of labour, are increasing due to a changing pregnant population and evolving evidence, which may contribute to a mismatch between expectations and birth experience. NICE recommends antenatal education (ANE) to prepare women for labour and birth, but there is no mandated UK National Health Service (NHS) ANE curriculum.

The impact of Cochrane Reviews that apply network meta-analysis in clinical guidelines: A systematic review.

Background: Systematic reviews, such as those prepared by Cochrane, are the strongest evidence on which to base recommendations in clinical guidelines. Network meta-analysis (NMA) can be used to combine the results of studies to compare multiple treatments, which is advantageous over pair-wise meta-analysis (PW-MA) that compares two treatments. We aimed to summarise which, when, where, who, and why Cochrane Reviews that applied NMA were cited in guidelines; and to compare the citation of NMA reviews in guidelines with PW-MA reviews.

Accuracy of cell-free fetal DNA in detecting chromosomal anomalies in women experiencing miscarriage: systematic review and meta-analysis.

Objective: To report the diagnostic accuracy of cell-free fetal DNA (cfDNA) in detecting fetal chromosomal anomalies in women experiencing miscarriage.

Methods: PubMed, MEDLINE, EMBASE and Cochrane databases were searched from inception to June 2024. The inclusion criteria were women experiencing miscarriage (defined as pregnancy loss before 20 weeks of gestation) who underwent cfDNA screening for trisomies 21, 18 and 13, other autosomal aneuploidies, sex-chromosome aneuploidies and/or copy-number variants (CNVs).

Monitoring and management of hemolytic disease of the fetus and newborn based on an international expert Delphi consensus.

The study aimed to develop structured, expert-based clinical guidance on the prenatal and postnatal management of hemolytic disease of the fetus and newborn. A Delphi procedure was conducted among an international panel of experts in fetal medicine, neonatology, and hematology. Experts were selected based on their expertise, relevant publications, and affiliations.

Variations in antenatal management and outcomes in haemolytic disease of the fetus and newborn: an international, retrospective, observational cohort study.

Background: Advances in haemolytic disease of the fetus and newborn have led to numerous treatment options. We report practice variations in the management and outcomes of haemolytic disease of the fetus and newborn in at-risk pregnancies.

Methods: In this international, retrospective, observational cohort study, data from cases with moderate or severe haemolytic disease of the fetus and newborn were retrieved from 31 centres in 22 countries.

Emergency Verbal Consent for Intrapartum Research: A Grounded Theory Study.

Objective: To understand the experiences of women, birth partners and health professionals of verbal followed by retrospective written consent in a prospective cohort study of a device to manage postpartum haemorrhage (PPH).

Design: Grounded Theory.

Setting: Tertiary facility in North-West England, UK.

Outcome Reporting in Studies Investigating Treatment for Caesarean Scar Ectopic Pregnancy: A Systematic Review.

Background: Caesarean scar ectopic pregnancy (CSEP) is associated with significant maternal and foetal morbidity. However, the optimal treatment remains unknown.

Objectives: The aim of this study was to review outcomes reported in studies on CSEP treatment and outcome reporting quality.

Impact of BMI on fertility in an otherwise healthy population: a systematic review and meta-analysis.

Background: An increased body mass index (BMI) can lead to subfertility; however, current literature fails to exclude the effect of other confounding medical conditions, raising questions regarding the direct link between increased BMI and fertility outcomes.

Objectives: To conduct a systematic review and meta-analysis to elucidate the effects of increased BMI on fertility outcomes in females with no other comorbidities.

Search Strategy: A comprehensive search was conducted using EMBASE, MEDLINE and the Cochrane library from January 2000 until July 2023.

Regulatory elements in (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.

Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.

Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.

Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.

Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series.

Background: Chondrodysplasia punctata 1 (CDPX1) is an X-linked recessive disorder of cartilage and bone development characterized by stippling on the cartilage and bone, flattened nasal bridge, and brachydactyly, or short fingers. CDPX1 has been associated with variants in the ARSL gene and is known to manifest prenatally, however, there has been no systematic literature review on this evidence.

Aims: Here, we reviewed the current literature on prenatal manifestations of CDPX1, and additionally introduce previously unpublished cases.