Clinical implementation of first trimester screening for congenital heart defects.

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.

The future demand of renewable fuels in Germany: Understanding the impact of electrification levels and socio-economic developments.

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.

Prevalence and detection rate of major congenital heart disease in twin pregnancies in Denmark.

Objective: To investigate the national prevalence and prenatal detection rate (DR) of major congenital heart disease (mCHD) in twin pregnancies without twin-to-twin transfusion syndrome (TTTS)-associated CHD in a Danish population following a standardized prenatal screening program.

Methods: This was a national registry-based study of data collected prospectively over a 10-year period. In Denmark, all women with a twin pregnancy are offered standardized screening and surveillance programs in addition to first- and second-trimester screening for aneuploidies and malformation, respectively: monochorionic (MC) twins every 2 weeks from gestational week 15 and dichorionic (DC) twins every 4 weeks from week 18.

Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.

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.

[Pulse oximetry screening of newborns can prevent circulatory collapse caused by congenital heart defect].

We present a case of total anomalous pulmonary venous drainage. Despite low oxygen saturation an eight-week-old girl had only minimal symptoms initially. She suffered collapse requiring acute surgical correction and prolonged intensive care.

A Randomized Trial of Low-Flow Oxygen versus Nasal Continuous Positive Airway Pressure in Preterm Infants.

Background: Nasal continuous positive airway pressure (nCPAP) stabilizes the residual volume and may decrease the risk of 'atelectotrauma', potentially promoting lung development in neonates.

Objectives: To assess whether replacing nCPAP by low-flow O2 by nasal cannula affects lung function expressed as the arterial/alveolar oxygen tension ratio (a/A pO2 ratio) on postnatal day 28.

Methods: Preterm infants (birth weight <1,500 g and gestational age, GA >26 + 0 weeks) stable on nCPAP between postnatal days 4 and 7 were randomized to nCPAP or low-flow O2 by nasal cannula (<0.

[Pulse oximetry screening of newborns can prevent circulatory collapse caused by congenital heart defect].

We present a case of total anomalous pulmonary venous drainage. Despite low oxygen saturation an eight-week-old girl had only minimal symptoms initially. She suffered collapse requiring acute surgical correction and prolonged intensive care.

Prenatal detection of congenital heart disease in a low risk population undergoing first and second trimester screening.

Objectives: The prenatal detection rate of congenital heart disease (CHD) is low compared with other fetal malformations. Our aim was to evaluate the prenatal detection of CHD in Eastern Denmark.

Methods: Fetuses and infants diagnosed with CHD in the period 01.

[Thorough family history and a multidisciplinary approach are important in sudden cardiac deaths].

Sudden cardiac death (SCD) is rare, yet well-known in children and adolescents. We present two cases of aborted SCD which reminds us of the importance of comprehensive family history as it proved difficult to ask the right questions revealing the number of family members with cardiac symptoms. Earlier recognition of sudden deaths in the family might have led to more extensive multidisciplinary examinations, and earlier diagnosis.

Nordic pulse oximetry screening--implementation status and proposal for uniform guidelines.

Aim: Pulse oximetry screening of newborn infants increases early detection of critical congenital heart disease and minimises the risk of circulatory collapse before surgery. This study provides an update on the implementation of pulse oximetry screening in the Nordic countries and proposes standardised guidelines.

Methods: A questionnaire exploring pulse oximetry screening, clinical examination routines and availability of echocardiography was distributed to all 157 delivery units in the Nordic countries in June 2013.

[Successful conservative treatment after accidental stab wound to the chest].

A five year-old girl was admitted to hospital following an accidental stab wound to the chest, inflicted by a knife placed in a dishwasher's cutlery tray. Investigations revealed a traumatic ventricular septum defect of the heart, with a pericardial effusion. Since the patient remained haemodynamically stable, surgical intervention was considered unnecessary.

Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients.

Recurrent copy number variants (CNVs) are found in a significant proportion of patients with congenital heart disease (CHD) and some of these CNVs are associated with other developmental defects. In some syndromic patients, CHD may be the first presenting symptom, thus screening of patients with CHD for CNVs in specific genomic regions may lead to early diagnosis and awareness of extracardiac symptoms. We designed a multiplex ligation-dependent probe amplification (MLPA) assay specifically for screening of CHD patients.

Surgical ligation of patent ductus arteriosus in premature infants.

Introduction: The objective was to evaluate the mortality and the morbidity in neonates operated for persistent ductus arteriosus at Copenhagen University Hospital in the 10-year period from 1 January 1998 to 31 December 2007, and to compare the results with results reported in extant literature.

Material And Methods: Patient data were collected by retrospective audit of medical charts. Infants with complex heart disease were excluded.

[Intersex: which gender should be chosen?].

A newborn infant with ambiguous genitalia is a medical emergency, and the choice of gender must take into account both the chromosomal and the gonadal sex, the hormonal milieu during fetal life, surgical aspects, the anatomy of the internal genitalia, as well as the prospects for future fertility, normal psychosexual development, and sexual function as an adult. Counselling requires paediatric endocrine, surgical, and psychological expertise, but the lack of knowledge of the long-term consequences of an intersex condition hampers rational treatment. It has long been customary to assign the child a female gender, whereas recent research points to a choice of a gender compatible with the chromosomal sex, if at all possible.

Community noise policy in Denmark.

This paper summarizes an analysis of Danish policy on community noise during the last three decades seen in a public health perspective. Estimates made during this period of population exposures to noise from transport are presented, followed by data on population reactions to community noise. The analysis of the main elements of Danish community noise policy in the form of remedies, preventive actions and strategies leads to the conclusion that although exposures of the population to community noise have decreased during this period, the Danish policy was not consistent in the 1970s and 1980s.

Epidemiology of unintentional drowning and near-drowning in Denmark in 1995.

Objectives: To determine the pattern of accidental drowning and near-drowning in Denmark.

Design: Prospective study of all cases of accidental drowning and near-drowning during one year.

Setting: Denmark, 1995.

[Deaths at the neonatal department. Withholding or interruption of life-support treatment].

The circumstances of 88 deaths in the Neonatal Department, Rigshospitalet Copenhagen, were reviewed with special emphasis on the clinical background for, and parental attitude to withholding life-sustaining treatment. We recorded whether these considerations appeared in the patient's medical record, the type of treatment withheld and the use of opioids. No infant died under ongoing maximal treatment.

Epidemiology of accidental drowning in Denmark 1989-1993.

Three hundred and forty-nine cases of accidental drowning or cooling in water occurring in Denmark from 1989 to 1993 have been studied. The incidence was highest in 0-4-year-old children, in middle-aged men, and in old people. A third of the children drowned in private pools.