Advances in prenatal imaging and genetic testing have improved the detection of orofacial anomalies, allowing for early diagnosis and comprehensive counseling. This study aims to provide an overview of current prenatal care practices for orofacial clefts and/or suspected Robin sequence (RS) across European countries and to identify disparities to inform future improvements. A cross-sectional survey was distributed to health care professionals affiliated with the European Reference Network CRANIO, collecting data on prenatal imaging, genetic testing, counseling, and termination of pregnancy.
View Article and Find Full Text PDFObjectives: Noninvasive prenatal testing (NIPT) to screen for fetal aneuploidies by analysing cell-free DNA in maternal plasma is available to pregnant women worldwide. In the future, the scope of NIPT could potentially be expanded to the prediction of adverse pregnancy outcomes. The objective of this study was to assess and compare the preferences of pregnant women and obstetric healthcare professionals on this new test purpose of NIPT.
View Article and Find Full Text PDFFrom an ethical point of view, there is an important distinction between two types of prenatal screening. The first of these targets maternal or foetal conditions (e.g.
View Article and Find Full Text PDFObjective: To assess the added value of fetal fraction of cell-free DNA in the maternal circulation in the prediction of adverse pregnancy outcomes.
Design: Retrospective cohort study.
Setting: Nationwide implementation study on non-invasive prenatal testing (NIPT; TRIDENT-2 study).
Prenat Diagn
August 2024
Objective: To explore the perspectives of pregnant women on broadening the scope of noninvasive prenatal testing (NIPT) from screening for foetal aneuploidies to prediction of adverse pregnancy outcomes.
Methods: Four online focus groups (n = 23 participants) and 14 individual semi-structured interviews were conducted. Participants included pregnant women with and without a history of adverse pregnancy outcomes.
Thiopurine treatment is regularly complicated by drug-induced liver injury. It has been suggested that oxidative stress may play a synergistic role. To assess whether thiopurine-induced liver injury coincides with increased oxidative stress and whether co-administration with N-acetylcysteine is protective, we performed a randomized open label crossover pilot study in inflammatory bowel disease patients with thiopurine-induced increased serum liver tests.
View Article and Find Full Text PDFBackground: Noninvasive prenatal testing by cell-free DNA analysis is offered to pregnant women worldwide to screen for fetal aneuploidies. In noninvasive prenatal testing, the fetal fraction of cell-free DNA in the maternal circulation is measured as a quality control parameter. Given that fetal cell-free DNA originates from the placenta, the fetal fraction might also reflect placental health and maternal pregnancy adaptation.
View Article and Find Full Text PDFBackground: Fetal fraction (FF) measurement is considered important for reliable noninvasive prenatal testing (NIPT). Using minimal FF threshold as a quality parameter is under debate. We evaluated the variability in reported FFs of individual samples between providers and laboratories and within a single laboratory.
View Article and Find Full Text PDFObjective: Low fetal fraction (LFF) in prenatal cell-free DNA (cfDNA) testing is an important cause of test failure and no-call results. LFF might reflect early abnormal placentation and therefore be associated with adverse pregnancy outcome. Here, we review the available literature on the relationship between LFF in cfDNA testing and adverse pregnancy outcome.
View Article and Find Full Text PDFNAFLD is closely related with the metabolic syndrome (MetS) and increased risk of cardiovascular disease. Liver fat associates with post-prandial hypertriglyceridemia, potentially contributing to triglyceride-enrichment of high-density lipoproteins (HDL-TG), and subsequent HDL dysfunction. We assessed liver fat by MR spectroscopy, and its association with HDL physiochemical properties, and endothelial function, measured as flow-mediated dilation (FMD), before and following three consecutive meals, in 36 men with type 2 diabetes mellitus (T2DM), with the MetS, and controls.
View Article and Find Full Text PDFSolid State Nucl Magn Reson
August 2019
A novel Dynamic Nuclear Polarization (DNP) NMR polarizing agent ToSMTSL-PTE representing a phospholipid with a biradical TOTAPOL tethered to the polar head group has been synthesized, characterized, and employed to enhance solid-state Nuclear Magnetic Resonance (SSNMR) signal of a lipid-reconstituted integral membrane protein proteorhodopsin (PR). A matrix-free PR formulation for DNP improved the absolute sensitivity of NMR signal by a factor of ca. 4 compared to a conventional preparation with TOTAPOL dispersed in a glassy glycerol/water matrix.
View Article and Find Full Text PDFObjective: To determine the human dose-response relationship between a stepwise increase in arterial oxygen tension and its associated changes in DO and sublingual microcirculatory perfusion.
Methods: Fifteen healthy volunteers breathed increasing oxygen fractions for 10 minutes to reach arterial oxygen tensions of baseline (breathing air), 20, 40, 60 kPa, and max kPa (breathing oxygen). Systemic hemodynamics were measured continuously by the volume-clamp method.
Background: Uric acid has neuroprotective effects, owing to its antioxidant properties. Lowered antioxidant capacity, causing increased oxidative stress, may be involved in affective disorders and might be altered by antidepressants. This study investigated the association of plasma uric acid, the greatest contributor to blood antioxidant capacity, with major depressive disorder (MDD) and anxiety disorders.
View Article and Find Full Text PDFPsychoneuroendocrinology
June 2017
Background: Increased activity of the three major physiological stress systems (immune-inflammatory system, hypothalamic-pituitary-adrenal-axis [HPA-axis], and autonomic nervous system [ANS]) is part of the pathophysiology of various somatic and psychiatric diseases. Oxidative damage is a key mechanism in both ageing and disease. Elucidating the relationship between these stress systems and oxidative damage would contribute to the understanding of the role of physiological stress in disease.
View Article and Find Full Text PDFBMJ
November 2016
Objective: To determine the accuracy of non-invasive fetal testing for the RHD gene in week 27 of pregnancy as part of an antenatal screening programme to restrict anti-D immunoglobulin use to women carrying a child positive for RHD DESIGN: Prospectively monitoring of fetal RHD testing accuracy compared with serological cord blood typing on introduction of the test. Fetal RHD testing was performed with a duplex real time quantitative polymerase chain reaction, with cell-free fetal DNA isolated from 1 mL of maternal plasma The study period was between 4 July 2011 and 7 October 2012. The proportion of women participating in screening was determined.
View Article and Find Full Text PDFBackground. Oxidative stress is increasingly important in health research. Therefore, it is necessary to understand which factors determine basal oxidative stress.
View Article and Find Full Text PDFPsychoneuroendocrinology
January 2015
Curr Atheroscler Rep
November 2014
Oxidative stress due to an excess of reactive oxygen species (ROS) may play a role in the development and progression of cardiovascular disease (CVD). 8-hydroxy-2'-deoxyguanosine (8-OHdG) is a marker of oxidative DNA damage caused by ROS. This review aimed to assess the association between 8-OHdG and CVD by reviewing the literature.
View Article and Find Full Text PDFBackground: Homoarginine is an amino acid that may be involved in nitric oxide and energy metabolism. Previous studies in patient populations showed that low homoarginine levels indicate an increased risk of mortality and cardiovascular disease. We evaluated whether low plasma levels of homoarginine are associated with elevated, overall and cause-specific mortality.
View Article and Find Full Text PDFObjective: To i) compare incretin responses to oral glucose and mixed meal of diabetic patients with the normoglycaemic population and ii) to investigate whether incretin responses are associated with hypertriglyceridaemia and alanine aminotransferase (ALT) as liver fat marker.
Design: A population-based study.
Methods: A total of 163 persons with normal glucose metabolism (NGM), 20 with intermediate hyperglycaemia and 20 with type 2 diabetes aged 40-65 years participated.
In this longitudinal study we investigated the effect of apolipoprotein E (APOE) genotype on the relation between cognitive decline and cerebrospinal fluid (CSF) F2-isoprostanes, the reference marker for oxidative stress. Twenty non-demented subjects, 58 mild cognitive impairment (MCI) patients, and 63 Alzheimer's disease (AD) patients with measurements of CSF F2-isoprostanes at two time points (with a mean interval of 2.0 ± 1.
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