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. 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.

[Diagnosis and treatment of a multisystemic disorder in children called congenital portosystemic shunts].

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.

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. 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.

[Pulse oximetry screening of newborns can prevent circulatory collapse caused by congenital heart defect]. / Screening af nyfødte med pulsoximetri kan hindre kredsløbskollaps forårsaget af medfødt hjertesygdom.

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. Her collapse and complicated post-operative course could have been avoided with earlier diagnosis. Infants with critical heart disease continue to be born undiagnosed despite prenatal ultrasound screening. There is evidence that infants with critical congenital heart defect can be detected by pulse oximetry screening, as is routine in Norway, Sweden and Finland, but not in Denmark.

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 (<0.2 liters/min). Study criteria defined how to wean/restart respiratory support or change from low-flow O2 to nCPAP and vice versa. Transcutaneous monitoring was used for the assessment of the a/A pO2 ratio on day 28 using a head box for all infants for accurate measurement and to eliminate possible effects from nCPAP or low-flow O2 on oxygen requirement. RESULTS: We enrolled 52 infants (nCPAP group n = 30 and low-flow O2 group n = 22). The a/A pO2 ratio at 28 days was 0.43 ± 0.17 (nCPAP group) versus 0.48 ± 0.18 (p = 0.36). The duration of nCPAP was 16.4 (low-flow group) versus 41.1 days (nCPAP group), p < 0.001. There was no difference between groups in the fraction needing any respiratory support at 36 weeks' corrected age, length of stay, weight at discharge, and relative weight gain. CONCLUSIONS: Replacing nCPAP by low-flow O2 in preterm infants with GA >26 weeks at the end of the first week of life did not seem to affect the a/A pO2 ratio or weight gain negatively. Thus, prolonged nCPAP seems not to have a positive effect on lung function at 28 days of life and replacement by low-flow O2 could reduce the cost of equipment and increase the ease of nursing.

[Pulse oximetry screening of newborns can prevent circulatory collapse caused by congenital heart defect]. / Screening af nyfødte med pulsoximetri kan hindre kredsløbskollaps forårsaget af medfødt hjertesygdom.

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. Her collapse and complicated post-operative course could have been avoided with earlier diagnosis. Infants with critical heart disease continue to be born undiagnosed despite prenatal ultrasound screening. There is evidence that infants with critical congenital heart defect can be detected by pulse oximetry screening, as is routine in Norway, Sweden and Finland, but not in Denmark.

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 01.01.2008-31.12.2010 were assessed regarding prenatal detection rate and accuracy, as well as correlation with nuchal translucency (NT) thickness. RESULTS: Out of 86 121 infants, 831 were born with CHD (0.96%). The prenatal detection rate of 'all CHD' was 21.3%, of 'Major CHD' 47.4%. Full agreement between prenatal and postnatal/autopsy findings was found in 96% of prenatally detected diagnoses. An NT thickness >95(th) percentile was found in 15.0% fetuses with 'Major CHD'. Of 'Major CHDs' detected prenatally, 77% were picked up at the time of the malformation scan at weeks 18-21. CONCLUSIONS: Nearly half of 'Major CHDs' were detected prenatally. The prenatal cardiac diagnoses showed a high degree of accuracy. Increased NT thickness as a screening tool for CHD performed moderately but is an important high risk group for specialist examination. A minority of the prenatally detected CHDs was identified because of extra scans performed in high risk pregnancies. © 2014 John Wiley & Sons, Ltd.

[Thorough family history and a multidisciplinary approach are important in sudden cardiac deaths]. / Grundig familieanamnese og et multidisciplinært samarbejde er vigtigt ved udredning af årsager til pludselig hjertedød.

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. RESULTS: We received responses from 156 of the 157 delivery units, and 116 (74%) were using pulse oximetry screening by September 2013. Preductal and postductal screening were both used in 59 of 116 units (51%), with just postductal screening in 51 of 116 (44%) and just preductal screening alone in 6 of 116 (5%). Screening was performed before 24 h in 105 of 116 units (91%). The implementation of screening was highest in Finland (29/30, 97%), Sweden (42/46, 91%) and Norway (43/48, 90%) and lowest in Denmark (2/24, 8%) and Iceland (0/8 units). CONCLUSION: In Sweden, Norway and Finland, the implementation of pulse oximetry screening is currently the highest in the world and coverage will be close to 100% in 2014. We propose uniform Nordic guidelines using preductal and postductal screening before 24 h of age.

[Successful conservative treatment after accidental stab wound to the chest]. / Vellykket konservativ behandling efter knivtraume mod hjertet.

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. At the first follow-up, an echocardiogram showed no visible pericardial effusion. At ten month follow-up, she showed initial symptoms of cardiac failure, and a renewed echocardiogram revealed a new pericardial effusion. It is important to perform long-term follow-up on patients with traumatic chest wounds.

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. The MLPA assay allows for simultaneous analysis of CNVs in 25 genomic regions previously associated with CHD. We screened blood samples from 402 CHD patients and identified 14 rare CNVs in 13 (3.2%) patients. Five CNVs were de novo and six where inherited from a healthy parent. The MLPA screen led to early syndrome diagnosis in two of these patients. We conclude that the MLPA assay detects clinically relevant CNVs and suggest that it could be used within pediatric cardiology as a first tier screen to detect clinically relevant CNVs and identify syndromic patients at an early stage.

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. The outcomes were mortality, necrotising enterocolitis (NEC), intraventricular haemorrhage (IVH), paresis of the recurrent laryngeal nerve and chylothorax. For statistical analyses, we used Fisher's exact test and Mann-Whitney U test. RESULTS: We included 46 neonates among an initial 60 candidates. Gestational age was from 23 + 6 to 34 + 0 weeks (mean 26 + 6.5) and the birth weight ranged from 535 g to 1,793 g (mean 943.5 g). In 93% of the cases, the left atrium diameter (LAD)/aorta diameter (Ao)-ratio measured by echocardiography was greater than or equal to 1.5, and medical closure had been attempted in 93% of the cases. After surgical ligation, there were three cases of paresis of the recurrent laryngeal nerve, two cases of chylothorax, eight cases of NEC, four cases of IVH and seven deaths (15.2%). The deaths occurred between three and 119 days postoperatively. Those who died were operated at an earlier age than the remaining patients (p < 0.05) and they tended to be of lower gestational age and to have a lower birth weight (p > 0.05) than those who survived. CONCLUSION: The need for ligation of a patent arterial duct in preterm neonates is subject to considerable risk. Total mortality in this vulnerable group of patients was 15%. Although no obviously procedure-related deaths were observed, severe complications and postoperative morbidity occurred.