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Objective To examine the feasibility and performance of implementing a standardized fetal cardiac scan at the time of a routine first-trimester ultrasound scan. Method A retrospective, single-center study in an unselected population between March 2021 and July 2022. A standardized cardiac scan protocol consisting of a four-chamber and 3-vessel trachea view with color Doppler was implemented as part of the routine first-trimester scan. Sonographers were asked to categorize the fetal heart anatomy. Data were stratified into two groups based on the possibility of evaluating the fetal heart. The influence of maternal and fetal characteristics and the detection of major congenital heart disease were investigated. Results A total of 5083 fetuses were included. The fetal heart evaluation was completed in 84.9%. The proportion of successful scans increased throughout the study period from 76% in the first month to 92% in the last month. High maternal body mass index and early gestational age at scan significantly decreased the feasibility. The first-trimester detection of major congenital heart defects was 7/16, of which four cases were identified by the cardiac scan protocol with no false-positive cases. Conclusion First-trimester evaluation of the fetal heart by a standardized scan protocol is feasible to implement in daily practice. It can contribute to the earlier detection of congenital heart defects at a very low false positive rate., Objective: To examine the feasibility and performance of implementing a standardized fetal cardiac scan at the time of a routine first-trimester ultrasound scan. Method: A retrospective, single-center study in an unselected population between March 2021 and July 2022. A standardized cardiac scan protocol consisting of a four-chamber and 3-vessel trachea view with color Doppler was implemented as part of the routine first-trimester scan. Sonographers were asked to categorize the fetal heart anatomy. Data were stratified into two groups based on the possibility of evaluating the fetal heart. The influence of maternal and fetal characteristics and the detection of major congenital heart disease were investigated. Results: A total of 5083 fetuses were included. The fetal heart evaluation was completed in 84.9%. The proportion of successful scans increased throughout the study period from 76% in the first month to 92% in the last month. High maternal body mass index and early gestational age at scan significantly decreased the feasibility. The first-trimester detection of major congenital heart defects was 7/16, of which four cases were identified by the cardiac scan protocol with no false-positive cases. Conclusion: First-trimester evaluation of the fetal heart by a standardized scan protocol is feasible to implement in daily practice. It can contribute to the earlier detection of congenital heart defects at a very low false positive rate.

Background: Studies of patients with retinitis pigmentosa (RP) have reported an increased prevalence of optic disc drusen (ODD) compared with the ODD prevalence in the general population. The diagnostic gold standard method for identifying ODD is enhanced depth imaging optical coherence tomography (EDI-OCT), but this modality has not previously been used systematically for identifying ODD in patients with RP. This study aimed to estimate the prevalence of ODD in patients with RP using EDI-OCT. Methods: In this cross-sectional study, 40 patients with clinically diagnosed RP aged 18 years or older were included. All patients underwent an ophthalmic examination, including kinetic perimetry, EDI-OCT of the optic nerve head, and fundus photography. Genetic testing with a next-generation sequencing panel of retinal dystrophy genes was performed on the RP patients without a prior genetic diagnosis. Results: Twelve patients (30.0%) had at least one ODD. Six patients had bilateral ODD. No significant differences between patients with and without ODD were found according to age, refraction, best-corrected visual acuity, Bruch membrane opening, or visual field. The genetic variation causing RP was found in 11 of 12 cases in the ODD group and in 17 of 28 cases in the group without ODD. Conclusions: We found the prevalence of ODD in patients with RP to be 30.0%. This is 15 times higher than in the general population and much higher than previously estimated in most studies, potentially indicating that the 2 conditions might be pathogenically related., BACKGROUND: Studies of patients with retinitis pigmentosa (RP) have reported an increased prevalence of optic disc drusen (ODD) compared with the ODD prevalence in the general population. The diagnostic gold standard method for identifying ODD is enhanced depth imaging optical coherence tomography (EDI-OCT), but this modality has not previously been used systematically for identifying ODD in patients with RP. This study aimed to estimate the prevalence of ODD in patients with RP using EDI-OCT.METHODS: In this cross-sectional study, 40 patients with clinically diagnosed RP aged 18 years or older were included. All patients underwent an ophthalmic examination, including kinetic perimetry, EDI-OCT of the optic nerve head, and fundus photography. Genetic testing with a next-generation sequencing panel of retinal dystrophy genes was performed on the RP patients without a prior genetic diagnosis.RESULTS: Twelve patients (30.0%) had at least one ODD. Six patients had bilateral ODD. No significant differences between patients with and without ODD were found according to age, refraction, best-corrected visual acuity, Bruch membrane opening, or visual field. The genetic variation causing RP was found in 11 of 12 cases in the ODD group and in 17 of 28 cases in the group without ODD.CONCLUSIONS: We found the prevalence of ODD in patients with RP to be 30.0%. This is 15 times higher than in the general population and much higher than previously estimated in most studies, potentially indicating that the 2 conditions might be pathogenically related.

The Climate Change Act recently enacted in Germany highlights the urgency of understanding the future demand for renewable fuels. In this study, we combine technological progress and socio-economic pathways in an energy system analysis to assess future renewable fuel demands in Germany. We apply the whole-system optimisation model, TIMES, to investigate transition pathways with varying electrification levels and socio-economic developments. The results show that renewable fuels demand varies between 388 PJ and 1310 PJ depending on the electrification rates. Furthermore, our findings demonstrate that considering socio-economic aspects and behavioural change, as represented by different Shared-Socio-economic Pathways, can significantly alter the demand for renewable fuels within a narrower yet still noteworthy range compared to the electrification scenarios. This provides country-level evidence highlighting the often-overlooked influence of social developments on demand projections. Consequently, it becomes crucial to prioritize the consideration of the climate mitigation potential arising from socioeconomic-induced changes in demand patterns within the broader framework of energy efficiency measures.

OBJECTIVE: To investigate the prevalence and national prenatal detection rate (DR) of major CHD (mCHD) in twin pregnancies without twin-to-twin transfusion syndrome (TTTS)-associated CHD in a population following a universal, standardized prenatal screening program.METHODS: All Danish twin pregnancies are offered standardized screening and surveillance programs besides the 1st and 2nd -trimester screening for aneuploidies and malformation, respectively: Monochorionic twins every two weeks from gestational week 15, and dichorionic twins every four weeks from week 18. The study was performed retrospectively with prospectively collected data. The data were retrieved from the Danish Fetal Medicine Database and included all twin pregnancies from 2009-2018, where at least one fetus had a mCHD diagnosis pre- and/or postnatally. A mCHD was defined as a CHD requiring surgery within the first year of life, excluding ventricular septal defects. All pregnancies were pre- and postnatally validated in the local patient files at the four tertiary centers covering the entire country.RESULTS: A total of 60 cases from 59 pregnancies were included. The prevalence of mCHD in twins was 4.6 per 1,000 twin pregnancies (95% confidence interval (CI) 3.5-6.0) (1.9 per 1,000 liveborn children (95% CI 1.3-2.5)). The prevalence for DC and MC were 3.6 (95% CI 2.6-5.0) and 9.2 (95% CI 5.8-13.7) per 1,000 pregnancies, respectively. The national DR of mCHD in twin pregnancies for the entire period was 68.3%. The highest detections were in cases with univentricular hearts (100%) and the lowest with a total anomaly of the pulmonary venous return, Ebstein's anomaly, aortic valve stenosis, and coarctation of the aorta (0-25%). Mothers of children with undetected mCHD had a significantly higher BMI compared to mothers of children with a detected mCHD (median 27 and 23, respectively, p=0.03).CONCLUSIONS: The prevalence of mCHD in twins was 4.6 per 1,000 pregnancies, and more frequ

Congenital portosystemic shunts (CPSS) are rare malformations, which connect the portal venous system and the systemic circulation. The disorder is discovered at prenatal screening, neonatal cholestasis as an incidental finding or by systemic complications such as pulmonary hypertension, encephalopathies or liver nodules. CPSS are associated to cardiac malformations and several syndromes. Intervention radiology plays a key role in treatment by closure of the shunt, which is indicated, if the patient has complications, the shunt is extrahepatic, or it is still persistent at two years of age, using a two-step approach, as summarised and discussed in this review.

We report three babies from two families with a severe lethal form of congenital cutis laxa. All three had redundant and doughy-textured skin and two siblings from one family had facial dysmorphism. Echocardiograms showed thickened and poorly contractile hearts, arterial dilatation and tortuosity. Post-mortem examination in two of the babies further revealed widespread ectasia and tortuosity of medium and large sized arteries, myocardial hypertrophy, rib and skull fractures. The presence of fractures initially suggested a diagnosis of osteogenesis imperfecta. Under light microscopy bony matrices were abnormal and arterial wall architecture was grossly abnormal showing fragmented elastic fibres. Molecular analysis of known cutis laxa genes did not yield any pathogenic defects. Whole exome sequencing of DNA following informed consent identified two separate homozygous variants in the LOX (Lysyl Oxidase) gene. LOX belongs to the 5-lysyl oxidase gene family involved in initiation of cross-linking of elastin and collagen. A mouse model of a different variant in this gene recapitulates the phenotype seen in the three babies. Our findings suggest that the LOX gene is a novel cause of severe congenital cutis laxa with arterial tortuosity, bone fragility and respiratory failure.