ObjectivesTo investigate neurodevelopmental outcome in preschool children with a CHD (congenital heart defect) requiring surgery compared to healthy controls.Materials and methodsThis study includes all Danish children born between 2016-2018 who underwent surgery within the first year for Ventricular Septal Defect (VSD), atrioventricular septal defect, coarctation of the aorta, double outlet right ventricle, tetralogy of fallot, and Transposition of the Great Arteries (TGA). Exclusion criteria: preterm birth (<37 weeks), twins, and genetic aberrations. Cases were matched with two to four healthy controls on age, sex, gestational age at delivery, and region of birth. Neurodevelopmental outcome at 33-60-months was assessed by the Ages & Stages Questionnaire (ASQ). Comparisons were performed by the Mann-Whitney U test and logistic regression analysis and presented as p-values and odds ratios (OR) with 95% confidence intervals (CI).ResultsThere were no differences in ASQ score between 105 cases with any CHD (230 (IQR 195-260)) and 179 controls (235 (IQR 205-265)), p = 0.12. Cases had five-fold increased odds of a low score compared to controls after adjusting for maternal educational level and children's age at ASQ completion (OR 5.02, 95% CI 1.49;16.90). This was primarily driven by cases with prenatally undetected VSD, where 20% scored below -2 standard deviations. No differences were found across individual CHD subgroups. In cases with prenatally undetected TGA, the total ASQ score was 185 (IQR 145-190) compared to 220 (IQR 190-270) in prenatally detected TGA, p = 0.08.ConclusionsThe overall ASQ score in children with surgically corrected CHD was comparable to controls. However, cases had five-fold increased odds of a low score, primarily driven by children with prenatally undetected VSD. Additionally, ASQ scores were lower in TGA cases, especially when undetected prenatally, though not significant. These findings suggest follow-up of all children with a CHD requiring surgery including awareness of potential developmental delays.

OBJECTIVE:To examine peak systolic velocity in the middle cerebral artery (MCA-PSV) in fetuses with transposition of the great arteries (TGA) and evaluate if TGA is associated with fetal anemia. METHOD:A retrospective, exploratory study with inclusion of singleton fetuses born with TGA at Copenhagen University Hospital Rigshospitalet 2016-2023. Data on MCA-PSV, neonatal hemoglobin and specific diagnoses were manually retrieved from patient files. RESULTS:In 52 cases, 205 MCA-PSV measurements from GA 20 + 0 to 39 + 1 met the inclusion criteria. Overall median MCA-PSV MoM was 1.09 (IQR 0.96; 1.20), increasing from 0.97 (IQR 0.86; 1.15) at gestational week 20 + 0 to 24 + 6 to 1.13 (IQR 0.95; 1.19) at gestational week 35 + 0 to 39 + 1. There were no differences in MCA-PSV MoM between cases with and without surgical closure of a VSD. Median hemoglobin concentration was 16.4 g/dL (IQR 15.3-17.2 g/dL) and MCA-PSV was inversely correlated with hemoglobin (-4.81 [95% confidence interval -7.21; -2.41]). CONCLUSION:The study adds to the limited evidence on MCA-PSV in TGA fetuses, supporting a trend of increasing MCA-PSV MoM with gestational age, although not significant after accounting for multiple measurements. Higher MCA-PSV MoM correlated with lower neonatal hemoglobin. However, findings do not show that TGA fetuses have elevated MCA-PSV due to anemia or that VSD influences MCA-PSV levels.

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.

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.

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.

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. 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. 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). 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.

ObjectivesThe 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.MethodsFetuses 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.ResultsOut of 86121 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.ConclusionsNearly 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. (c) 2014 John Wiley & Sons, Ltd.

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. © 2012 Wiley Periodicals, Inc.

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