Fetal premature atrial contractions: natural course, risk factors and adverse outcomes.

OBJECTIVE: Fetal premature atrial contractions (PACs) are usually benign, but are associated with congenital heart defects (CHDs) and tachyarrhythmias, which in turn carry a risk of cardiac failure and fetal death. We aimed to explore the frequency of adverse outcomes and to identify risk factors for tachyarrhythmias in pregnancies complicated by fetal PACs. METHODS: Fetuses diagnosed with PACs at two academic centres in Amsterdam between 2007 and 2022 were included in this retrospective cohort study. Cases with congenital anomalies or a prior diagnosis of CHD or other arrhythmias were excluded. M-mode and Doppler tracings were reanalysed and the PACs frequency recorded. We explored the incidence of adverse outcomes defined as: underlying CHDs not identified during the 20 weeks fetal anomaly scan, tachyarrhythmias, other arrhythmias, administration of antiarrhythmic therapy and death. Risk factors for tachyarrhythmias were analysed using odds ratios (OR). RESULTS: In 24% of the referred cases, PACs resolved before confirmation at the fetal medicine unit (FMU). Of the 939 included cases with proven PACs, the total incidence of adverse outcome was 6.8% (64/939). CHDs were diagnosed in 14 cases (1.5%, 95%-CI 0.9-2.5%) of which eight prenatally and six postnatally. Compared to baseline, the incidence of CHD in the presence of fetal PACs was increased (OR 1.8, 95%-CI 1.0-3.3, p=0.034). Tachyarrhythmias occurred prenatally and/or postnatally in 32 cases (3.4%) of which eight (25.0%) showed signs of cardiac failure and in 23 (71.9%) antiarrhythmic therapy was required. None of the tachyarrhythmias led to fetal or neonatal death. Risk factors for a tachyarrhythmia were: PACs with short runs of supraventricular tachycardia (OR 99), blocked PACs (OR 30), PACs in bigeminy (OR 22), frequent PACs (1 per 5-10 beats) (OR 6.9), signs of cardiac failure (OR 14) and the presence of a foramen ovale aneurysm (OR 5.0). CONCLUSIONS: PACs are generally benign and resolve often spontaneously. However, fetuses with irregular heart rate should be referred for advanced ultrasonography, which should focus on the type of PACs and risk classification. When risk factors for tachyarrhythmias are identified, weekly heart rate monitoring is advised until the PACs resolve. In the absence of risk factors, standard obstetric care may be sufficient with additional instructions to report reduced fetal movements. Should tachyarrhythmias or cardiac failure develop, referral back to the FMU is then indicated. This article is protected by copyright. All rights reserved.

Screening, diagnosis and follow-up of Brugada syndrome in children: a Dutch expert consensus statement.

Brugada syndrome (BrS) is a rare inherited arrhythmia syndrome. Affected children may experience life-threatening symptoms, mainly during fever. The percentage of SCN5A variant carriers in children is higher than in adults. Current diagnostic and follow-up policies for children with (a family history of) BrS vary between centres. Here, we present a consensus statement based on the current literature and expert opinions to standardise the approach for all children with BrS and those from BrS families in the Netherlands. In summary, BrS is diagnosed in patients with a spontaneous type 1 electrocardiogram (ECG) pattern or with a Shanghai score ≥ 3.5 including ≥ 1 ECG finding. A sodium channel-blocking drug challenge test should only be performed after puberty with a few exceptions. A fever ECG is indicated in children with suspected BrS, in children with a first-degree family member with definite or possible BrS according to the Shanghai criteria with a SCN5A variant and in paediatric SCN5A variant carriers. In-hospital rhythm monitoring during fever is indicated in patients with an existing type 1 ECG pattern and in those who develop such a pattern. Genetic testing should be restricted to SCN5A. Children with BrS and children who carry an SCN5A variant should avoid medication listed at www.brugadadrugs.org and fever should be suppressed. Ventricular arrhythmias or electrical storms should be treated with isoproterenol infusion.

The electrical heart axis in fetuses with congenital heart disease, measured with non-invasive fetal electrocardiography.

OBJECTIVES: To determine if the electrical heart axis in different types of congenital heart defects (CHD) differs from that of a healthy cohort at mid-gestation. METHODS: Non-invasive fetal electrocardiography (NI-fECG) was performed in singleton pregnancies with suspected CHD between 16 and 30 weeks of gestation. The mean electrical heart axis (MEHA) was determined from the fetal vectorcardiogram after correction for fetal orientation. Descriptive statistics were used to determine the MEHA with corresponding 95% confidence intervals (CI) in the frontal plane of all fetuses with CHD and the following subgroups: conotruncal anomalies (CTA), atrioventricular septal defects (AVSD) and hypoplastic right heart syndrome (HRHS). The MEHA of the CHD fetuses as well as the subgroups was compared to the healthy control group using a spherically projected multivariate linear regression analysis. Discriminant analysis was applied to calculate the sensitivity and specificity of the electrical heart axis for CHD detection. RESULTS: The MEHA was determined in 127 fetuses. The MEHA was 83.0° (95% CI: 6.7°; 159.3°) in the total CHD group, and not significantly different from the control group (122.7° (95% CI: 101.7°; 143.6°). The MEHA was 105.6° (95% CI: 46.8°; 164.4°) in the CTA group (n = 54), -27.4° (95% CI: -118.6°; 63.9°) in the AVSD group (n = 9) and 26.0° (95% CI: -34.1°; 86.1°) in the HRHS group (n = 5). The MEHA of the AVSD and the HRHS subgroups were significantly different from the control group (resp. p = 0.04 and p = 0.02). The sensitivity and specificity of the MEHA for the diagnosis of CHD was 50.6% (95% CI 47.5% - 53.7%) and 60.1% (95% CI 57.1% - 63.1%) respectively. CONCLUSION: The MEHA alone does not discriminate between healthy fetuses and fetuses with CHD. However, the left-oriented electrical heart axis in fetuses with AVSD and HRHS was significantly different from the control group suggesting altered cardiac conduction along with the structural defect. TRIAL REGISTRATION: Clinical trial registration number: NL48535.015.14.

Implications of fetal premature atrial contractions: systematic review.

OBJECTIVE: Fetal heart-rate irregularities occur in 1-2% of pregnancies and are usually caused by premature atrial contractions (PAC). Although PAC are considered benign, they may be associated with cardiac defects and tachyarrhythmia. We aimed to determine the incidence of congenital heart defects (CHDs) and complications in fetuses with PAC. METHODS: This was a systematic review and meta-analysis conducted in accordance with the PRISMA statement for reporting items for systematic reviews and meta-analyses. MEDLINE and EMBASE were searched from 1990 to June 2021 to identify studies on fetuses with PAC. The primary outcome was CHD; secondary outcomes were complications using the endpoints supraventricular tachyarrhythmia (SVT), cardiac failure and intrauterine fetal demise. Meta-analysis of proportions was performed, subdivided into high-risk and low-risk populations based on reason for referral. Pooled incidences with 95% CIs were calculated. RESULTS: Of 2443 unique articles identified, 19 cohort studies including 2260 fetuses were included. The pooled incidence of CHD in fetuses with PAC was 2.8% (95% CI, 1.5-4.1%), when 0.6% is the incidence expected in the general population. The pooled incidence of CHD was 7.2% (95% CI, 3.5-10.9%) in the high-risk population and 0.9% (95% CI, 0.0-2.0%) in the low-risk population. SVT occurred in 1.4% (95% CI, 0.6-3.4%) of fetuses diagnosed with PAC. Cardiac failure was described in 16 fetuses (1.4% (95% CI, 0.5-3.5%)), of which eight were CHD-related. Intrauterine fetal demise occurred in four fetuses (0.9% (95% CI, 0.5-1.7%)) and was related to CHD in two cases. CONCLUSIONS: Our findings suggest that the risk of CHD in fetuses with PAC is 4-5 times higher than that in the general population. CHD was present more frequently in the high-risk population. Consequently, an advanced ultrasound examination to diagnose PAC correctly and exclude CHD is recommended. Complications of PAC are rare but can result in fetal demise, thus weekly fetal heart-rate monitoring remains advisable to enable early detection of SVT and to prevent cardiac failure. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Two-dimensional Speckle tracking echocardiography in Fetal Growth Restriction: a systematic review.

Background Fetal growth restriction (FGR), defined as an estimated fetal weight (EFW)<10th percentile, is associated with an increased risk for adverse fetal and neonatal outcome. Early antenatal diagnosis is important and remains challenging. Deformation changes in the fetal myocardium are early signs of myocardial dysfunction. These changes can be measured using two-dimensional speckle tracking echocardiography (2D-STE) to predict impaired placental function in the growth restricted fetus. Aim To review the literature on fetal heart deformation values measured with 2D-STE, in fetuses with an EFW< 10th centile and appropriate for gestational age (AGA) fetuses, and to compare the results in both groups. Methods The EMBASE, Medline, and Cochrane databases were searched from inception until April 2020. Observational studies on evaluating the cardiac deformation values longitudinal strain, strain rate, and/or global dyssynchrony of both ventricles in FGR, using 2D-STE, were included. Methodological quality was assessed using the Newcastle-Ottowa risk of bias scale. Results Four studies met the inclusion criteria. The mean gestational age (GA) varied from 30 to 38 weeks in the FGR group and 20 to 40 weeks in AGA fetuses. The number of included FGR fetuses (with or without Doppler abnormalities), varied from 30 to 50. Longitudinal strain in FGR fetuses was described as comparable (n = 2), increased (n = 1) and>95th percentile (n = 1) compared to AGA fetuses. Strain rate was measured in two studies. One reported an increased strain rate, another showed comparable strain rate. Two studies addressed global left ventricle (LV) and right ventricle (RV) dyssynchrony. Dyssynchrony was increased in FGR compared to AGA fetuses. Conclusion The currently published data is limited and heterogeneous concerning GA and Doppler profiles. The data presentation and the interpretation thereof make qualitative comparisons impossible. Large prospective longitudinal cohort studies looking at the value of deformation measurements of the fetal heart in FGR and AGA fetuses are needed to assess the clinical significance of deformation values measured with 2D-STE.

Impact of extracardiac pathology on head growth in fetuses with congenital heart defect.

OBJECTIVE: Neurodevelopmental delay is frequently encountered in children with a congenital heart defect (CHD). Fetuses with major CHD have a smaller head circumference (HC), irrespective of altered cerebral flow or brain oxygenation. This cohort study compared head growth in cases with isolated vs those with non-isolated CHD to evaluate the effect of additional pathology on head size in these fetuses. METHOD: All CHD cases diagnosed prenatally in the period January 2002-July 2014 were selected from our regional registry, PRECOR. Cases of multiple pregnancy, and those affected by maternal diabetes, severe fetal structural brain anomalies or functional CHD were excluded. Subjects were divided into groups according to whether the CHD was isolated, and the non-isolated group was subdivided into three groups: cases with genetic anomaly, extracardiac malformation or placental pathology. In both isolated and non-isolated CHD groups, CHDs were also grouped according to their potential effect on aortic flow and oxygen saturation. Mean HC Z-scores at 20 weeks and increase or decrease (Δ) of HC Z-scores over the course of pregnancy were compared between isolated and non-isolated groups, using mixed linear regression models. RESULTS: Included were 916 cases of CHD diagnosed prenatally, of which 378 (41.3%) were non-isolated (37 with placental pathology, 217 with genetic anomaly and 124 with extracardiac malformation). At 20 weeks, non-isolated cases had significantly lower HC Z-scores than did isolated cases (Z-score = -0.70 vs -0.03; P < 0.001) and head growth over the course of pregnancy showed a larger decrease in this group (Δ HC Z-score = -0.03 vs -0.01 per week; P = 0.01). Cases with placental pathology had the lowest HC Z-score at 20 weeks (Z-score = -1.29) and the largest decrease in head growth (Δ HC Z-score = -0.06 per week). In CHD subjects with a genetic diagnosis (Z-score = -0.73; Δ HC Z-score = -0.04 per week) and in those with an extracardiac malformation (Z-score = -0.49; Δ HC Z-score = -0.02 per week), HC Z-scores were also lower compared with those in subjects with isolated CHD. CHDs that result in low oxygenation or flow to the brain were present more frequently in isolated than in non-isolated cases. CONCLUSIONS: Smaller HC in fetuses with CHD appears to be associated strongly with additional pathology. Placental pathology and genetic anomaly in particular seem to be important contributors to restricted head growth. This effect appears to be irrespective of altered hemodynamics caused by the CHD. Previously reported smaller HC in CHD should, in our opinion, be attributed to additional pathology. Neurodevelopment studies in infants with CHD should, therefore, always differentiate between isolated and non-isolated cases. © 2019 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.

Why are congenital heart defects being missed?

OBJECTIVE: Congenital heart defects (CHD) are still missed frequently in prenatal screening programs, which can result in severe morbidity or even death. The aim of this study was to evaluate the quality of fetal heart images, obtained during the second-trimester standard anomaly scan (SAS) in cases of CHD, to explore factors associated with a missed prenatal diagnosis. METHODS: In this case-control study, all cases of a fetus born with isolated severe CHD in the Northwestern region of The Netherlands, between 2015 and 2016, were extracted from the PRECOR registry. Severe CHD was defined as need for surgical repair in the first year postpartum. Each cardiac view (four-chamber view (4CV), three-vessel (3V) view and left and right ventricular outflow tract (LVOT, RVOT) views) obtained during the SAS was scored for technical correctness on a scale of 0 to 5 by two fetal echocardiography experts, blinded to the diagnosis of CHD and whether it was detected prenatally. Quality parameters of the cardiac examination were compared between cases in which CHD was detected and those in which it was missed on the SAS. Regression analysis was used to assess the association of sonographer experience and of screening-center experience with the cardiac examination quality score. RESULTS: A total of 114 cases of isolated severe CHD at birth were analyzed, of which 58 (50.9%) were missed and 56 (49.1%) were detected on the SAS. The defects comprised transposition of the great arteries (17%), aortic coarctation (16%), tetralogy of Fallot (10%), atrioventricular septal defect (6%), aortic valve stenosis (5%), ventricular septal defect (18%) and other defects (28%). No differences were found in fetal position, obstetric history, maternal age or body mass index (BMI) or gestational age at examination between missed and detected cases. Ninety-two cases had available cardiac images from the SAS. Compared with the detected group, the missed group had significantly lower cardiac examination quality scores (adequate score (≥ 12) in 32% vs 64%; P = 0.002), rate of proper use of magnification (58% vs 84%; P = 0.01) and quality scores for each individual cardiac plane (4CV (2.7 vs 3.9; P < 0.001), 3V view (3.0 vs 3.8; P = 0.02), LVOT view (1.9 vs 3.3; P < 0.001) and RVOT view (1.9 vs 3.3; P < 0.001)). In 49% of missed cases, the lack of detection was due to poor adaptational skills resulting in inadequate images in which the CHD was not clearly visible; in 31%, the images showed an abnormality (mainly septal defects and aortic arch anomalies) which had not been recognized at the time of the scan; and, in 20%, the cardiac planes had been obtained properly but showed normal anatomy. Multivariate regression analysis showed that the volume of SAS performed per year by each sonographer was associated significantly with quality score of the cardiac examination. CONCLUSIONS: A lack of adaptational skills when performing the SAS, as opposed to circumstantial factors such as BMI or fetal position, appears to play an important role in failure to detect CHD prenatally. The quality of the cardiac views was inadequate significantly more often in undetected compared with detected cases. Despite adequate quality of the images, CHD was not recognized in 31% of cases. A high volume of SAS performed by each sonographer in a large ultrasound center contributes significantly to prenatal detection. In 20% of undetected cases, CHD was not visible even though the quality of the images was good. © 2019 Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Growth patterns and cerebroplacental hemodynamics in fetuses with congenital heart disease.

OBJECTIVES: Congenital heart disease (CHD) has been associated with reduced fetal head circumference (HC), although the underlying pathophysiology remains undetermined. We aimed to define trends in fetal growth and cerebroplacental Doppler flow, and to investigate their relationship, in fetuses with CHD. METHODS: This was a retrospective study in two fetal medicine units in The Netherlands. We included all fetuses with CHD in whom Doppler flow patterns (middle cerebral artery (MCA) pulsatility index (PI), umbilical artery (UA) PI and cerebroplacental ratio (CPR)) and biometry (HC and abdominal circumference (AC)) had been measured serially after 19 weeks' gestation between January 2010 and November 2016. Fetuses were categorized into three groups based on the expected cerebral arterial oxygen saturation of their particular type of CHD: normal; mild to moderately reduced; severely reduced. Trends over time in Z-scores were analyzed using a linear mixed-effects model. RESULTS: A total of 181 fetuses fulfilled the inclusion criteria. Expected cerebral arterial oxygen saturation in CHD was classified as normal in 44 cases, mild to moderately reduced in 84 and severely reduced in 53. In the cohort overall, average trends over time were significant for both HC and AC Z-scores. HC Z-scores showed a tendency to decrease until 23 weeks, then to increase until 33 weeks, followed by another decrease in the late third trimester. AC Z-scores increased progressively with advancing gestation. MCA-PI and UA-PI Z-scores showed significant trends throughout pregnancy, but CPR Z-scores did not. There were no associations between expected cerebral arterial oxygen saturation and fetal growth. Average trends in MCA-PI Z-scores were significantly different between the three subgroups, whereas those in UA-PI Z-scores and in CPR Z-scores were similar between the subgroups. There was no significant association between MCA-PI and HC Z-scores. CONCLUSIONS: Fetal biometry and Doppler flow patterns are within normal range in fetuses with CHD, but show trends over time. Head growth in fetuses with CHD is not associated with cerebral blood flow pattern or placental function and HC is not influenced by the cerebral arterial oxygen saturation. © 2018 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.

Postnatal outcome of fetal isolated ventricular size disproportion in the absence of aortic coarctation.

OBJECTIVE: Cardiac ventricular size disproportion is a marker for aortic coarctation (CoA) in fetal life, but approximately 50% of fetuses do not have CoA after birth. The aim of this study was to evaluate the postnatal outcome of cases with fetal ventricular size disproportion in the absence of CoA after birth. METHODS: All cases with fetal isolated ventricular size disproportion diagnosed between 2002 and 2015 were extracted from a prenatal congenital heart defects regional registry. Cases were stratified according to presence or absence (non-CoA) of aortic arch anomalies after birth. Postnatal outcome of non-CoA cases was evaluated by assessing the presence of cardiac and other congenital malformations, genetic syndromes and other morbidity after birth. Non-CoA cases were further classified according to whether they had cardiovascular pathology requiring medication or intervention. RESULTS: Seventy-seven cases with fetal ventricular size disproportion were identified, of which 46 (60%) did not have CoA after birth. Of these, 35 did not require cardiovascular intervention or medication, whereas 11 did. Of the 46 non-CoA cases, six presented with clinical pulmonary hypertension requiring treatment after birth, cardiac defects were present in 24 cases and syndromic features were seen in four. Overall, 43% of all non-CoA children were still under surveillance at the end of the study period. CONCLUSIONS: The postnatal course of cases with fetal ventricular size disproportion is complicated by prenatally undetected congenital defects (46%) and pulmonary or transition problems (35%) in a significant number of cases that do not develop CoA. Proper monitoring of these cases is therefore warranted and it is advisable to incorporate the risks for additional morbidity and neonatal complications in prenatal counseling. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Left ventricular dysfunction is associated with frequent premature ventricular complexes and asymptomatic ventricular tachycardia in children.

AIMS: To assess the risk factors for left ventricular (LV) dysfunction in a paediatric population with idiopathic frequent premature ventricular contractions (PVCs) and asymptomatic ventricular tachycardias (VTs). METHODS AND RESULTS: Paediatric patients with the diagnosis of idiopathic frequent PVCs and asymptomatic VTs were retrospectively evaluated. Frequent PVCs were defined as ≥5% on 24 h Holter recording. Left ventricular dysfunction was defined as a shortening fraction of ≤28%. Seventy-two children were identified. Six patients showed LV dysfunction at diagnosis [age 10 ± 7 years, 2 (33%) had symptoms such as syncope, palpitations, fatigue, and dizziness], and 66 showed normal LV function [age 8 ± 6 years, 22 (33%) with symptoms]. Patients with LV dysfunction had a higher percentage of PVCs on Holter recordings (47 ± 16 vs. 16 ± 11%, P = 0.006), higher prevalence of VT [5 (83%) vs. 27 (41%), P = 0.045] and sustained ventricular tachycardia (sVT) [3 (50%) vs. 4 (6%), P = 0.001], and a higher number of couplets [6 (100%) vs. 34 (52%), P = 0.030]. In patients with LV dysfunction, two responded to medication (Classes Ic and II) and five underwent ablation, of which one was unsuccessful. During follow-up, LV function normalized in five of six patients. In patients with a normal function, none developed LV dysfunction during the follow-up. CONCLUSION: In children with idiopathic PVCs and asymptomatic VTs, development of LV dysfunction is associated with a higher burden of PVCs, the presence of sVTs, and couplets. Left ventricular dysfunction appears to be reversible if the burden of PVCs is decreased by medication or ablation.

Fluorinated steroids do not improve outcome of isolated atrioventricular block.

INTRODUCTION: Congenital atrioventricular block (CAVB) is a rare disorder with a significant morbidity and mortality. Consensus regarding the prescription and efficacy of prenatal corticosteroids is lacking. This nationwide study was initiated to evaluate the effects of prenatal treatment with corticosteroids on the outcome of CAVB in The Netherlands. METHODS: All fetuses identified with isolated congenital AVB-II° or AVB-III° in any of the eight academic fetal heart centers of The Netherlands between 2003 and 2013 were included and reviewed. RESULTS: Fifty-six fetuses were included. Fourteen (25%) fetuses were treated with dexamethasone. We found no differences between the steroid-treated and untreated cases regarding in utero progression of the AVB (63% vs 67% respectively), survival to birth (86% vs 84%), pacemaker implantations (74% vs 58%) or long-term dilated cardiomyopathy (13% vs 17%). Steroid treated fetuses demonstrated more in utero growth restriction (38% vs 11%). CONCLUSION: No benefit from prenatal corticosteroid treatment was demonstrated for fetuses with isolated CAVB in this study. However, we found negative side effects. Our data provide no evidence to support the routine administration of corticosteroids for the treatment of fetal CAVB.

Head growth in fetuses with isolated congenital heart defects: lack of influence of aortic arch flow and ascending aorta oxygen saturation.

OBJECTIVES: Congenital heart defects (CHDs) are reported to be associated with a smaller fetal head circumference (HC) and neurodevelopmental delay. Recent studies suggest that altered intrauterine brain hemodynamics may explain these findings. Our objectives were to evaluate the pattern of head growth in a large cohort of fetuses with various types of CHD, analyze these patterns according to the type of CHD and estimate the effect of cerebral hemodynamics with advancing gestation in the second and third trimesters. METHODS: Singleton fetuses with an isolated CHD were selected from three fetal medicine units (n = 436). Cases with placental insufficiency or genetic syndromes were excluded. CHD types were clustered according to the flow and oxygen saturation in the aorta. Z-scores of biometric data were constructed using growth charts of a normal population. HC at different gestational ages was evaluated and univariate and multivariate mixed regression analyses were performed to examine the patterns of prenatal HC growth. RESULTS: Fetuses with severe and less severe types of CHD demonstrated statistically significant HC growth restriction with increasing gestational age (slope of -0.017/day); however, there was no statistically significant effect of fetal hemodynamics on HC growth. Fetuses with CHD but normal brain oxygenation and normal aortic flow showed a significant decrease in HC growth (slope of -0.024/day). Only fetuses with isolated tetralogy of Fallot demonstrated a smaller HC z-score at 20 weeks of gestation (-0.67 (95% CI, -1.16 to -0.18)). CONCLUSIONS: Despite the decline in head growth in fetuses with a prenatally detected isolated CHD, HC values were within the normal range, raising the question of its clinical significance. Furthermore, in contrast to other studies, this large cohort did not establish a significant correlation between aortic flow or oxygen saturation and HC growth. Factors other than altered fetal cerebral hemodynamics may contribute to HC growth restriction with increasing gestational age, such as (epi)genetic or placental factors. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Prenatal diagnosis of congenital heart defects: accuracy and discrepancies in a multicenter cohort.

OBJECTIVE: To examine the accuracy of fetal echocardiography in diagnosing congenital heart disease (CHD) at the fetal medicine units of three tertiary care centers. METHODS: This was a multicenter cohort study of tertiary echocardiography referrals between 2002 and 2012. Prenatal and postnatal diagnoses were compared and the degree of agreement was classified as 'correct' (anatomy correct and the postnatal diagnosis led to a similar outcome as expected), 'discrepant' (anatomical discrepancies present but the severity and prognosis of the defect were diagnosed correctly) or 'no similarity' (the pre- and postnatal diagnoses differed completely). RESULTS: We included 708 cases with CHD for which both prenatal and postnatal data were available. The prenatal diagnosis was correct in 82.1% of cases and discrepancies present were present in 9.9%; however, these did not result in a different outcome. In 8.1% there was no similarity between prenatal and postnatal diagnoses. Disagreement between pre- and postnatal diagnoses occurred significantly more frequently in cases that presented with a normal four-chamber view than in those with an abnormal four-chamber view (5.5% vs 1.9%). Incorrect identification of the outflow tracts and incorrect differentiation between unbalanced atrioventricular septal defect and hypoplastic left heart syndrome were relatively commonly encountered. In many cases with disagreement, trisomy 21, extracardiac anomaly or a high maternal body mass index was present. CONCLUSIONS: The prenatal diagnosis and estimated prognosis of fetal echocardiography in our tertiary referral centers were appropriate in 92% of cases. Some types of CHD remain difficult to diagnose or rule-out prenatally, therefore awareness and education are of considerable importance. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Prenatal detection of congenital heart disease--results of a national screening programme.

OBJECTIVE: Congenital heart disease (CHD) is the most common congenital malformation and causes major morbidity and mortality. Prenatal detection improves the neonatal condition before surgery, resulting in less morbidity and mortality. In the Netherlands a national prenatal screening programme was introduced in 2007. This study evaluates the effects of this screening programme. DESIGN: Geographical cohort study. SETTING: Large referral region of three tertiary care centres. POPULATION: Fetuses and infants diagnosed with severe CHD born between 1 January 2002 and 1 January 2012. METHODS: Cases were divided into two groups: before and after the introduction of screening. MAIN OUTCOME MEASURES: Detection rates were calculated. RESULTS: The prenatal detection rate (n = 1912) increased with 23.9% (95% confidence interval [95% CI] 19.5-28.3) from 35.8 to 59.7% after the introduction of screening and of isolated CHD with 21.4% (95% CI 16.0-26.8) from 22.8 to 44.2%. The highest detection rates were found in the hypoplastic left heart syndrome, other univentricular defects and complex defects with atrial isomerism (>93%). Since the introduction of screening, the 'late' referrals (after 24 weeks of gestation) decreased by 24.3% (95% CI 19.3-29.3). CONCLUSIONS: This is the largest cohort study to investigate the prenatal detection rate of severe CHD in an unselected population. A nationally organised screening has resulted in a remarkably high detection rate of CHD (59.7%) compared with earlier literature.

Platypnoea-orthodeoxia syndrome, an underdiagnosed cause of hypoxaemia: four cases and the possible underlying mechanisms.

Cardiac platypnoea-orthodeoxia syndrome (POS) is a position-dependent condition of dyspnoea and hypoxaemia due to right-to-left shunting. It often remains unrecognised in clinical practice, possibly because of its complex underlying pathophysiology. We present four consecutive patients with POS and patent foramen ovale (PFO) who underwent a successful percutaneous PFO closure, describe the mechanism of their POS and provide a review of the literature.

Prenatal detection of transposition of the great arteries reduces mortality and morbidity.

OBJECTIVES: To evaluate the prenatal detection of transposition of the great arteries (TGA), after the introduction of a Dutch screening program in 2007, as well as the effect of prenatal detection on pre- and postsurgical mortality and morbidity. METHODS: In a geographical cohort study, all infants with TGA who were born between 1 January 2002 and 1 January 2012 were included. The cases were divided into two groups: those with and those without a prenatal diagnosis. Pre- and postsurgical mortality was assessed, with a follow-up of 1 year. Presurgical morbidity was assessed in terms of cardiovascular compromise, metabolic acidosis, renal and/or hepatic dysfunction and closure of the duct before initiation of therapy. RESULTS: Of all cases (n = 144), 26.4% were diagnosed prenatally, with detection rates of 15.7% and 41.0% in the first and last 5 years of the study period, respectively. First-year mortality was significantly lower in cases with a prenatal diagnosis of TGA than in those without (0.0% vs 11.4%, respectively). Presurgical mortality (4.9%) only occurred in undetected simple TGA cases. Closure of the duct before treatment, renal dysfunction and hypoxia occurred significantly more often in the group without a prenatal diagnosis. CONCLUSIONS: The prenatal detection rate of TGA has increased significantly since the introduction of the screening program in 2007. Prenatal diagnosis is an important factor that contributes to survival of the infant in the first postnatal year. Furthermore, some morbidity indicators were significantly higher in the group without a prenatal diagnosis. These results justify efforts to improve prenatal screening programs.

Two cases of aorto-right atrial tunnel: clinical presentation, imaging and percutaneous closure.

Communication between the aortic sinus and a cardiac chamber is a rare anomaly that can be diagnosed in children and young adults. We describe two cases with a tunnel between the aortic sinus and right atrium, discuss diagnostic modalities, and review the literature on this anomaly.

Prenatal diagnosis of cardiac defects: accuracy and benefit.

OBJECTIVE: The prenatal diagnosis of cardiac defects can potentially reduce postnatal morbidity and mortality. We wanted to evaluate prenatal cardiac diagnosis accuracy in a population referred for echocardiography. METHODS: Single centre retrospective study of echocardiography referrals between April 1999 and December 2008. We compared the prenatal and postnatal cardiac diagnoses, the modified Aristotle and Wald scores. The final diagnosis Wald score was used to evaluate benefit. RESULTS: Six hundred fetuses were included. Diagnoses included: normal heart (312, 52%); congenital heart defect (CHD) (231, 38.5%); primary arrhythmia (39, 6.5%); or cardiomyopathy, myocarditis or cardiac tumor (18, 3%). The prenatal and postnatal Aristotle and Wald scores correlated in 81% and 86%, respectively, each with significant differences in 22 cases. Four significant CHDs were misdiagnosed, the surgical prediction was incorrect in 7 and 13 false positive diagnoses of aortic coarctation were made. In 76% (455/600) fetuses prenatal diagnosis was considered beneficial. The average CHD Aristotle score was 9.5 ± 5.0. In babies with CHDs and normal karyotype the score was either 6.5 ± 5.0, 12.9 ± 3.1 or 13.2 ± 2.9, in survivors, cases of postnatal demise and cases of pregnancy termination, respectively. CONCLUSION: Prenatal diagnosis was accurate and the counselling appropriate in most cases; however, a few errors were made. The diagnosis of aortic coarctation remains challenging.

Psychological functioning and disease-related quality of life in pediatric patients with an implantable cardioverter defibrillator.

The objective of this multicenter study was to evaluate psychological functioning and disease-related quality of life (DRQoL) in pediatric patients with an implantable cardioverter defibrillator (ICD) in The Netherlands. Thirty patients were investigated; the mean age was 16.3 years, and the mean duration of implantation was 3.6 years. To assess psychological problems, three domains of the Symptom Checklist (SCL-90-R) were administered to the 25 patients[13 years old. DRQoL was assessed with a disease-specific pediatric questionnaire, the short-form 11-item Worries About (WA)ICDs Scale. Patients C13 years old scored significantly higher than the reference group on the domains of anxiety, depression, and sleeping problems of the SCL-90-R (T = 7.5, p\0.001; T = 5.4, p\0.001; and T = 7.8, p\0.001, respectively). Patients who had received an (in)appropriate shock reported more depressive symptoms (T = 2.1, p\0.03). Patients with [2 years implant duration (N = 19) or who had received an (in)appropriate shock (N = 13) showed lower DRQoL scores on the modified WAICD (T = 2.1, p\0.04; T = 2.1, p\0.5, respectively). Age at implantation or underlying disease did not influence psychological problems or DRQoL. Young ICD patients showed more anxiety, depression, and sleeping disorders. Worries were increased among patients with ICD shocks and in those who had their ICD implanted for[2 years. To determine psychological problems and help children to learn to cope with shocks, proper guidance and monitoring of young ICD patients are recommended.

Audit of 10 years of referrals for fetal echocardiography.

OBJECTIVES: To evaluate trends over time, indications, diagnoses, noncardiac defects and outcome of fetuses referred for tertiary level echocardiography. METHODS: Retrospective study of fetal echocardiograms performed between April 1999 and 2009. RESULTS: Of the 623 fetuses included, 301 (48%) had cardiac pathology. Congenital heart defects (CHDs) were found in 243/301 (81%), mostly in the severe spectrum. Of the fetuses with CHDs, 26% (63/243) had chromosomal anomalies. The chromosomally normal fetuses with CHDs had a mortality rate of 43% (77/180) and 23% (41/180) had extra-cardiac anomalies. The termination of pregnancy (TOP) rate for all cardiac pathology was 24.9% (75/301) and for CHDs 29.6% (72/243). The TOP rates for CHDs diagnosed before 19 and 24 weeks gestation were 61% (28/46) and 44% (68/155), respectively. An increase in referrals followed the introduction of a national screening program, (nuchal translucency (NT) and routine structural ultrasound screening). The main referral indication was an increased NT (>95th percentile; 32% of cases). CHDs were found in 81/239 (34%) fetuses with an increased NT. CONCLUSIONS: Referral indications for fetal echocardiography were appropriate (almost 50% had cardiac pathology). The mortality was high. Fetal outcome and TOP decisions correlated with CHD severity and presence of noncardiac defects. An increased NT is a strong marker for CHDs.