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Objectives: First, to determine the uptake of prenatal exome sequencing (pES) and the diagnostic yield of pathogenic (causative) variants in a UK tertiary fetal medicine unit following the introduction of the NHS England Rapid Exome Sequencing Service for fetal anomalies testing (R21 pathway). Second, to identify how the decision to proceed with pES and identification of a causative variant affect perinatal outcomes, specifically late termination of pregnancy (TOP) at or beyond 22 weeks' gestation. Methods: This was a retrospective cohort study of anomalous fetuses referred to the Liverpool Women's Hospital Fetal Medicine Unit between 1 March 2021 and 28 February 2022. pES was performed as part of the R21 pathway. Trio exome sequencing was performed using an Illumina next‐generation sequencing platform assessing coding and splice regions of a panel of 974 prenatally relevant genes and 231 expert reviewed genes. Data on demographics, phenotype, pES result and perinatal outcome were extracted and compared. Descriptive statistics and the χ‐square or Fisher's exact test were performed using IBM SPSS version 28.0.1.0. Results: In total, 72 cases were identified and two‐thirds of eligible women (n = 48) consented to trio pES. pES was not feasible in one case owing to a low DNA yield and, therefore, was performed in 47 cases. In one‐third of cases (n = 24), pES was not proposed or agreed. In 58.3% (14/24) of these cases, this was because invasive testing was declined and, in 41.7% (10/24) of cases, women opted for testing and underwent chromosomal microarray analysis only. The diagnostic yield of pES was 23.4% (11/47). There was no overall difference in the proportion of women who decided to have late TOP in the group in which pES was agreed compared with the group in which pES was not proposed or agreed (25.0% (12/48) vs 25.0% (6/24); P = 1.0). However, the decision to have late TOP was significantly more frequent when a causative variant was detected compared with when pES was uninformative (63.6% (7/11) vs 13.9% (5/36); P < 0.0009). The median turnaround time for results was longer in cases in which a causative variant was identified than in those in which pES was uninformative (22 days (interquartile range (IQR), 19–34) days vs 14 days (IQR, 10–15 days); P < 0.0001). Conclusions: This study demonstrates the potential impact of identification of a causative variant by pES on decision to have late TOP. As the R21 pathway continues to evolve, we urge clinicians and policymakers to consider introducing earlier screening for anomalies, developing robust guidance for late TOP and ensuring optimized support for couples. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

INTRODUCTION Many US Americans consume diets that are overly high in energy and in constituents associated with disease risk, particularly saturated fat (SFA), cholesterol and sodium and low in protective [...], BACKGROUND/OBJECTIVES: To assess the effects on macro- and micronutrient intake of a nutrition intervention program in corporate settings across the United States. SUBJECTS/METHODS: Two hundred and ninety-two individuals who were overweight or had type 2 diabetes were recruited from 10 sites of a US insurance company. Two hundred and seventy-one participants completed baseline diet recalls, and 183 participants completed dietary recalls at 18 weeks. Sites were randomly assigned to an intervention group (five sites) or to a control group (five sites) for 18 weeks. At intervention sites, participants were asked to follow a low-fat vegan diet and attend weekly group meetings. At control sites, participants continued their usual diets. At baseline and 18 weeks, participants completed 2-day diet recalls. Between-group differences in changes in nutrient intake were assessed using an analysis of covariance. RESULTS: Compared with those in the control group, intervention-group participants significantly reduced the reported intake of total fat (P = 0.02), saturated (P = 0.006) and monounsaturated fats (P = 0.01), cholesterol (P = 0.009), protein (P = 0.03) and calcium (P = 0.02), and increased the intake of carbohydrate (P = 0.006), fiber (P = 0.002), b-carotene (P = 0.01), vitamin C (P = 0.003), magnesium (P = 0.04) and potassium (P = 0.002). CONCLUSIONS: An 18-week intervention program in a corporate setting reduces intake of total fat, saturated fat and cholesterol and increases the intake of protective nutrients, particularly fiber, β-carotene, vitamin C, magnesium and potassium. The reduction in calcium intake indicates the need for planning for this nutrient. European Journal of Clinical Nutrition (2013) 67, 1066-1071; doi: 10.1038/ejcn.2013.149; published online 14 August 2013 Keywords: vegan; vegetarian; nutrition; diet; workplace

INTRODUCTION Approximately two-thirds of Americans are currently overweight, half of whom are obese. (1) Obesity is associated with increased risk of serious health conditions, including type 2 diabetes, cardiovascular disease, [...], BACKGROUND/OBJECTIVES: To determine the effects of a low-fat plant-based diet program on anthropometric and biochemical measures in a multicenter corporate setting. SUBJECTS/METHODS: Employees from 10 sites of a major US company with body mass index X25kg/[m.sup.2] and/or previous diagnosis of type 2 diabetes were randomized to either follow a low-fat vegan diet, with weekly group support and work cafeteria options available, or make no diet changes for 18 weeks. Dietary intake, body weight, plasma lipid concentrations, blood pressure and glycated hemoglobin (Hb[A.sub.1]C) were determined at baseline and 18 weeks. RESULTS: Mean body weight fell 2.9kg and 0.06 kg in the intervention and control groups, respectively (P < 0.001). Total and low-density lipoprotein (LDL) cholesterol fell 8.0 and 8.1 mg/dl in the intervention group and 0.01 and 0.9 mg/dl in the control group (P < 0.01). Hb[A.sub.1]C fell 0.6 percentage point and 0.08 percentage point in the intervention and control group, respectively (P < 0.01). Among study completers, mean changes in body weight were -4.3 kg and -0.08 kg in the intervention and control groups, respectively (P < 0.001). Total and LDL cholesterol fell 13.7 and 13.0 mg/dl in the intervention group and 1.3 and 1.7 mg/dl in the control group (P < 0.001). Hb[A.sub.1]C levels decreased 0.7 percentage point and 0.1 percentage point in the intervention and control group, respectively (P < 0.01). CONCLUSIONS: An 18-week dietary intervention using a low-fat plant-based diet in a corporate setting improves body weight, plasma lipids, and, in individuals with diabetes, glycemic control. European Journal of Clinical Nutrition (2013) 67, 718-724; doi: 10.1038/ejcn.2013.92; published online 22 May 2013 Keywords: plant-based; vegan; vegetarian; weight loss; clinical trial

This article, published in the journal Ultrasound in Obstetrics & Gynecology, discusses a case study of a prenatal diagnosis involving a woman with suspected brain abnormalities. The study focuses on the identification of compound heterozygous mutations in the RARS2 gene, which is associated with pontocerebellar hypoplasia type 6 (PCH6). The authors highlight the highly heterogeneous clinical phenotypes and numerous missense variations of uncertain significance that make diagnosis challenging. They suggest that RARS2 testing should be considered in patients with brain lesions, even if they do not exhibit pontocerebellar hypoplasia. [Extracted from the article]

This article, published in the journal Ultrasound in Obstetrics & Gynecology, discusses a rare case of LEOPARD syndrome, a multiple congenital anomaly syndrome, in a prenatal diagnosis. The case involves a double aortic arch caused by an uncommon mutation in the PTPN11 gene. The diagnosis was prompted by an increased nuchal translucency measurement and cystic hygroma observed during the first trimester scan. The findings were confirmed through amniocentesis and whole exome sequencing. This case is significant as it is only the third reported case of LEOPARD syndrome with this specific mutation and the first case associated with a double aortic arch. [Extracted from the article]

This article discusses a case of Meckel Gruber syndrome (MGS), a rare genetic disorder characterized by renal cystic dysplasia, occipital encephalocele, and postaxial polydactyly. The case involves a 23-year-old woman who had a previous pregnancy interrupted due to polycystic kidney disease. During her current pregnancy, first trimester ultrasound screening revealed brain abnormalities consistent with MGS, but without polydactyly. Further testing confirmed the diagnosis through whole exome sequencing, which identified compound heterozygous mutations in the TMEM67 gene. The article emphasizes the importance of early detection and comprehensive genetic counseling for future pregnancies due to the high recurrence risk of MGS. [Extracted from the article]

This article reports on a case of a 24-week-old fetus with alpha thalassemia major (ATM) and malformation of cortical development. The fetus's mother had microcytic hypochromic anemia, and ultrasound revealed severe fetal anemia, cardiomegaly, dysplasia of the feet, and other abnormalities. Neurosonography showed brain abnormalities, including ventriculomegaly and dysgenesis of the corpus callosum. The findings suggest that severe anemia may contribute to abnormal brain development. The authors recommend neurosonography for cases of ATM that may require intrauterine intervention. [Extracted from the article]