Progesterone level in assisted reproductive technology: a systematic review and meta-analysis.

Elevated progesterone (EP) or inadequate progesterone levels during ART cycle monitoring may lead to cycle cancellations or further progesterone supplementation, but practice varies. It remains controversial whether modifying clinical practice in the presence or absence of EP improves clinical outcomes. This systematic review aims to investigate if progesterone levels at different phases of fresh and frozen ART cycles influence pregnancy outcomes, in particular, that pertaining to day 3 versus day 5 embryo transfers.

Omega-3 LC-PUFA consumption is now recommended for women of childbearing age and during pregnancy to protect against preterm and early preterm birth: implementing this recommendation in a sustainable manner.

Preterm birth (delivery prior to 37 weeks) appears to be rising globally, increasing the risk of a myriad of down-stream disorders which affect families, their offspring and society, including increased morbidity, mortality and economic costs. Strategies for prevention of preterm birth have therefore become a priority among healthcare providers. One proposed strategy is increased consumption of Omega-3 long-chain polyunsaturated fatty acids (LC-PUFAs), particularly docosahexaenoic acid (DHA) (from food or supplements) in women of childbearing age and during pregnancy.

-related disorder in 87 adults: Natural history and self-sustainability.

Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.

Powdered human milk-derived versus bovine milk-derived breastmilk fortification: A multi-centre preterm randomised controlled trial.

Objective: To compare faecal calprotectin, plasma amino acids and clinical outcomes in preterm infants receiving powdered human milk-based fortifier (PHMF) compared to powdered bovine milk-based fortifier (PBMF) in preterm infants on an otherwise exclusive human milk diet (EHMD).

Methods: A randomised controlled trial in infants <32 weeks of gestation or <1500 g who only received human milk and had reached full enteral feeds (150 mL/kg/day), without pre-existing gastrointestinal morbidity. Primary outcome was faecal calprotectin within 21 days of starting fortification; secondary outcomes were calprotectin at discharge, plasma amino acids and clinical outcomes, including growth and neonatal morbidities.

Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders.

Introduction: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of our work was to consolidate our understanding of NTRK2-related disorders and to delineate the clinical presentation METHODS: We report extended cohort of 44 affected individuals, of whom 19 are from the literature and 25 were previously unreported.

"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project.

Participants in the 100,000 Genomes Project (100kGP) could consent to receive additional finding (AF) results, individual variants relating to genes associated with susceptibility to cancer and familial hypercholesterolemia (FH). In the study reported here, qualitative interviews were used to explore the experiences of National Health Service (NHS) professionals from across England who were tasked with returning over 80,000 "no AF" results and 700 positive AF results to 100kGP participants. Interviews were conducted with 45 professionals from a range of backgrounds, including Genetic Counsellors, Clinical Geneticists, FH Clinical Nurse Specialists and Clinical Scientists.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.

An international consensus on the use of asthma biologics in pregnancy.

Uncontrolled asthma is associated with an increased risk of adverse perinatal outcomes. Asthma biologics reduce exacerbation frequency, are steroid sparing, and improve quality of life in people with severe asthma. However, evidence for the use and safety of asthma biologics during pregnancy is scarce, largely because pregnant women were excluded from clinical trials.

FERN: is it possible to conduct a randomised controlled trial of intervention or expectant management for early-onset selective fetal growth restriction in monochorionic twin pregnancy - protocol for a prospective multicentre mixed-methods feasibility study.

Introduction: Selective fetal growth restriction (sFGR) in monochorionic twin pregnancy, defined as an estimated fetal weight (EFW) of one twin <10th centile and EFW discordance ≥25%, is associated with stillbirth and neurodisability for both twins. The condition poses unique management difficulties: on the one hand, continuation of the pregnancy carries a risk of death of the smaller twin, with a high risk of co-twin demise (40%) or co-twin neurological sequelae (30%). On the other, early delivery to prevent the death of the smaller twin may expose the larger twin to prematurity, with the associated risks of long-term physical, emotional and financial costs from neurodisability, such as cerebral palsy.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Background: Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated through differential DNA methylation. A subgroup of patients with imprinting disorders have DNA methylation changes at multiple imprinted loci, a condition referred to as multi-locus imprinting disturbance (MLID). MLID is recognised in most but not all imprinting disorders and is also found in individuals with atypical clinical features; the presence of MLID often alters the management or prognosis of the affected person.

Socioeconomic disparities in the postnatal growth of preterm infants: a systematic review.

Objective: To determine the effect of parental socioeconomic status (SES) on the postnatal growth of preterm infants.

Methods: A systematic review (PROSPERO registration CRD42020225714) of original articles from Medline, Embase, CINAHL Plus and Web of Science published 1946-2023 was undertaken. Studies were included if they reported anthropometric growth outcomes for preterm infants according to parental SES.

Diagnosis and management of selective fetal growth restriction in monochorionic twin pregnancies: A cross-sectional international survey.

Objective: To identify current practices in the management of selective fetal growth restriction (sFGR) in monochorionic diamniotic (MCDA) twin pregnancies.

Design: Cross-sectional survey.

Setting: International.

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.

Introduction: In October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England, requiring the coordination of care from specialist genetics, fetal medicine (FM) and laboratory services. This mixed methods study explored the experiences of professionals involved in delivering the pES service during the first 2 years of its delivery in the NHS.

Methods: A survey ( = 159) and semi-structured interviews ( = 63) with healthcare professionals, including clinical geneticists, FM specialists, and clinical scientists (interviews only) were used to address: 1) Views on the pES service; 2) Capacity and resources involved in offering pES; 3) Awareness, knowledge, and educational needs; and 4) Ambitions and goals for the future.

Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.

Ionotropic glutamate receptors (iGluRs), specifically α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors (AMPARs), play a crucial role in orchestrating excitatory neurotransmission in the brain. AMPARs are intricate assemblies of subunits encoded by four paralogous genes: GRIA1-4. Functional studies have established that rare GRIA variants can alter AMPAR currents leading to a loss- or gain-of-function.

The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers.

Objectives: To report the long-term outcomes from a longitudinal psychosocial study that forms part of the 'Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted Screening in men at higher genetic risk and controls' (IMPACT) study. The IMPACT study is a multi-national study of targeted prostate cancer (PrCa) screening in individuals with a known germline pathogenic variant (GPV) in either the BReast CAncer gene 1 (BRCA1) or the BReast CAncer gene 2 (BRCA2).

Subjects And Methods: Participants enrolled in the IMPACT study were invited to complete a psychosocial questionnaire prior to each annual screening visit for a minimum of 5 years.

Remission of Type 2 Diabetes After Treatment With a High-Fiber, Low-Fat, Plant-Predominant Diet Intervention: A Case Series.

Prevalence of type 2 diabetes (T2D) is rising, and its burden on the healthcare system remains a challenge. Consumption of a plant-predominant diet is a promising approach for achieving remission, which has emerged as a therapeutic target. To establish feasibility of achieving T2D remission with a plant-predominant diet in a cohort of free-living individuals.

Cognitive function and skeletal size and mineral density at age 6-7 years: Findings from the Southampton Women's Survey.

Introduction: Poor cognitive function and osteoporosis commonly co-exist in later life. In women, this is often attributed to post-menopausal estrogen loss. However, a common early life origin for these conditions and the associations between cognitive function and bone mineral density (BMD) in childhood have not previously been explored.