Obstetric and gynaecological features in females carrying variants in the skeletal muscle ryanodine receptor type 1 (RYR1) gene: a questionnaire study.

Mutations in the ryanodine receptor type 1 (RYR1) gene are amongst the most common causes of early-onset, non-dystrophic neuromuscular disorders. RYR1 mutations have also anecdotally been implicated in non-skeletal muscle symptoms such as an increased bleeding tendency particularly prominent in females, but the prevalence of these features is currently unknown. In this questionnaire-based study, we aimed to evaluate smooth muscle function, bleeding, obstetric, and gynaecological outcomes in RYR1-variant carrying females.

Assessment of the thymus in fetuses prior to spontaneous preterm birth using functional MRI.

Objectives: The aim of this study was to utilise T2* relaxometry (an indirect method of quantifying tissue oxygenation) to assess the fetal thymus in uncomplicated pregnancies throughout gestation and in a cohort of fetuses that subsequently deliver very preterm.

Methods: A control group of participants with low-risk pregnancies were recruited and retrospectively excluded if they developed any pregnancy related complications after scanning. Participants were recruited who were deemed to be at very high risk of delivery prior to 32 weeks' gestation and retrospectively excluded if they did not deliver prior to this gestation.

Anxiety, depression, and perceived wellbeing in antenatal women at risk of preterm birth: a retrospective cohort study.

Introduction: Women identified at risk for preterm may be vulnerable to developing mental health difficulties due to the increased likelihood of poor pregnancy outcome and uncertainty surrounding their delivery. Formal assessment of mental wellbeing in specialist preterm birth clinics is not routinely offered, but may offer the opportunity for early intervention.

Methods: We aimed to investigate if demographic characteristics and obstetric risk factors were associated with psychological wellbeing in women at risk of preterm birth.

INSIGHT-2: mechanistic studies into pregnancy complications and their impact on maternal and child health-study protocol.

Background: Pregnancy and early childhood cohorts provide a framework for investigating the complex interplay between early-life exposures and health outcomes, thereby informing prevention strategies and interventions to improve maternal and child health. In this paper, we outline the objectives, methodologies and expected contributions of INSIGHT-2, a comprehensive cohort study dedicated to advancing our understanding of pregnancy and pregnancy complications towards improving the health and well-being of mothers and their offspring.

Methods: Over the course of 5 years, the study aims to establish a diverse cohort of 1700 pregnant women and to follow up their children up to 2 years of age.