Newborn Screening for High-Risk Congenital Heart Disease by Dried Blood Spot Biomarker Analysis.

Importance: Congenital heart disease (CHD) is the most common human organ malformation, affecting approximately 1 of 125 newborns globally. Objectives: Assessing the performance of 2 diagnostic tests using minimal amounts of dried blood spots (DBS) to identify high-risk CHD compared with controls in a Swedish cohort of neonates. Design, Setting, and Participants: This diagnostic study took place in Sweden between 2019 and 2023 and enrolled full-term babies born between 2005 and 2023. All cases were identified through centralized pediatric cardiothoracic surgical services in Lund and Gothenburg, Sweden. Controls were followed up for 1 year to ensure no late presentations of high-risk CHD occurred. Cases were verified through surgical records and echocardiography. Exposure: High-risk CHD, defined as cases requiring cardiac surgical management during infancy due to evolving signs of heart failure or types in which the postnatal circulation depends on patency of the arterial duct. Using 3-µL DBS samples, automated quantitative tests for NT-proBNP and interleukin 1 receptor-like 1 (IL-1 RL1; formerly known as soluble ST2) were compared against established CHD screening methods. Main Outcomes and Measures: Performance of DBS tests to detect high-risk CHD using receiver operating characteristic curves; Bland-Altman and Pearson correlation analyses to compare IL-1 RL1 DBS with plasma blood levels. Results: A total of 313 newborns were included (mean [SD] gestational age, 39.4 [1.3] weeks; 181 [57.8%] male). Mean (SD) birthweight was 3495 (483) grams. Analyzed DBS samples included 217 CHD cases and 96 controls. Among the CHD cases, 188 participants (89.3%) were high-risk types, of which 73 (38.8%) were suspected prenatally. Of the 188 high-risk cases, 94 (50.0%) passed pulse oximetry screening and 36 (19.1%) were initially discharged after birth without diagnoses. Combining NT-proBNP and IL-1 RL1 tests performed well in comparison with existing screening methods and enabled additional identification of asymptomatic babies with receiver operating characteristic area under the curve 0.95 (95% CI, 0.93-0.98). Conclusions and relevance: In this diagnostic study, NT-proBNP and IL-1 RL1 DBS assays identified high-risk CHD in a timely manner, including in asymptomatic newborns, and improved overall screening performance in this cohort from Sweden. Prospective evaluation of this novel approach is warranted.

Active versus restrictive ligation strategy for patent ductus arteriosus - A retrospective two-center study of extremely preterm infants born between 22 + 0 and 25 + 6 weeks of gestational age.

BACKGROUND: Patent ductus arteriosus (PDA) in premature infants is associated with adverse clinical outcomes. Mode and timing of treatment are still controversial. Data are limited in the most extremely premature infants <26 weeks of gestational age (GA), where clinical problems are most significant and patients are most vulnerable. AIMS: To investigate whether different approaches to surgical closure of PDA in two large Swedish centers has an impact on clinical outcomes including mortality in extremely preterm infants born <26 weeks GA. STUDY DESIGN: Retrospective, two-center, cohort study. SUBJECTS: Infants born at 22+0-25+6 weeks GA between 2010 and 2016 at Uppsala University Children's Hospital (UUCH; n = 228) and Queen Silvia Children's Hospital Gothenburg (QSCHG; n = 220). MAIN OUTCOME MEASURES: Survival, bronchopulmonary dysplasia (BPD), and retinopathy of prematurity (ROP). RESULTS: Surgical closure of PDA was more common and performed earlier at QSCHG (50 % vs 16 %; median age 11 vs 44 days; p < 0.01). Survival was similar in both centres. There was a higher incidence of severe BPD and longer duration of mechanical ventilation at UUCH (p < 0.01). There was a higher incidence of ROP, IVH and sepsis at QSCH (p < 0.05, p < 0.01 and p < 0.01). A sub-group analysis matching all surgically treated infants at QSCHG with infants at UUCH with the same GA showed similar results as the total cohort. CONCLUSION: Earlier and higher rate of surgical PDA closure in this cohort of extremely preterms born <26 weeks GA did not impact mortality but was associated with lower rates of severe BPD and higher rates of severe ROP.

Screening for Critical Congenital Heart Defects in Sweden.

OBJECTIVES: Early diagnosis of critical congenital heart defects (CCHD) improves survival. We evaluated the relative contributions of prenatal ultrasound, neonatal pulse oximetry screening (POS), and neonatal physical examination (NPE) to the early detection (before discharge) of CCHD in the context of increasing prenatal detection, and POS being a national standard since 2013. METHODS: Retrospective, nationwide population-based study. All full-term live-born infants with CCHD in Sweden between 2014 and 2019 were included. CCHD was defined as a congenital heart defect requiring surgery or catheter-based intervention or resulting in death within 28 days of birth. RESULTS: Of 630 infants, 89% were diagnosed before discharge or death, 42% prenatally, 11% from early symptoms, 23% by POS, and 14% from NPE after a negative POS. Four (0.6%) died undiagnosed before discharge and 64/630 (10%) were discharged undiagnosed, with 24/64 being readmitted with circulatory failure and causing 1 preoperative death. Coarctation was the most prevalent CCHD (N = 184), 25% of whom were detected prenatally (12% by POS and 29% by NPE). Two died undiagnosed before discharge and 30% were discharged undiagnosed. Transposition was the second most common defect (N = 150) and 43% were detected prenatally (33% by POS, 1 by NPE) and 2 died undiagnosed before POS. None was discharged undiagnosed. CONCLUSIONS: POS and NPE remain important for the early detection of CCHD complementing prenatal ultrasound screening. Nevertheless, 1 in 10 with CCHD leaves the hospital without a diagnosis, with coarctation being the predominant lesion. Future research on CCHD screening should have a particular focus on this cardiac defect.

Impact of Left Ventricular Morphology on Adverse Outcomes Following Stage 1 Palliation for Hypoplastic Left Heart Syndrome: 20 Years of National Data From Sweden.

Background Hypoplastic left heart syndrome is associated with significant morbidity and mortality. We aimed to assess the influence of left ventricular morphology and choice of shunt on adverse outcome in patients with hypoplastic left heart syndrome and stage 1 palliation. Methods and Results This was a retrospective analysis of patients with hypoplastic left heart syndrome with stage 1 palliation between 1999 and 2018 in Sweden. Patients (n=167) were grouped based on the anatomic subtypes aortic-mitral atresia, aortic atresia-mitral stenosis (AA-MS), and aortic-mitral stenosis. The left ventricular phenotypes including globular left ventricle (Glob-LV), miniaturized and slit-like left ventricle (LV), and the incidence of major adverse events (MAEs) including mortality were assessed. The overall mortality and MAEs were 31% and 41%, respectively. AA-MS (35%) was associated with both mortality (all other subtypes versus AA-MS: interstage-I: hazard ratio [HR], 2.7; P=0.006; overall: HR, 2.2; P=0.005) and MAEs (HR, 2.4; P=0.0009). Glob-LV (57%), noticed in all patients with AA-MS, 61% of patients with aortic stenosis-mitral stenosis, and 19% of patients with aortic atresia-mitral atresia, was associated with both mortality (all other left ventricular phenotypes versus Glob-LV: interstage-I: HR, 4.5; P=0.004; overall: HR, 3.4; P=0.0007) and MAEs (HR, 2.7; P=0.0007). There was no difference in mortality and MAEs between patients with AA-MS and without AA-MS with Glob-LV (P>0.15). Patients with AA-MS (35%) or Glob-LV (38%) palliated with a Blalock-Taussig shunt had higher overall mortality compared with those palliated with Sano shunts, irrespective of the stage 1 palliation year (AA-MS: HR, 2.6; P=0.04; Glob- LV: HR, 2.1; P=0.03). Conclusions Glob-LV and AA-MS are independent morphological risk factors for adverse short- and long- term outcome, especially if a Blalock-Taussig shunt is used as part of stage 1 palliation. These findings are important for the clinical management of patients with hypoplastic left heart syndrome.

Prenatal detection of congenital heart disease - results of a Swedish screening program 2013-2017.

BACKGROUND: This report evaluates results of a screening program on prenatal detection of congenital heart defects in a geographical cohort of western Sweden between January 1st, 2013 and June 31st, 2017. During the study period 88,230 children were born in VGR. METHODS: Retrospective data on pregnant women from the Västra Götaland region that were referred to fetal cardiologists in Gothenburg were retrieved. To determine prenatal detection rate, all neonates who underwent surgery or catheter intervention for a critical congenital heart defect born between January 1st, 2014 and December 31st, 2016 were included. The four-chamber view was implemented into the routine scan in 2009 and implementation of the ISUOG guidelines, including the outflow tracts, started in the region in 2015. RESULTS: 113 fetuses received a prenatal diagnosis of a major congenital heart defect. 89% of these were referred because of a suspected cardiac malformation and 88% were diagnosed before 22 completed weeks. 59% of the patients diagnosed before 22 completed weeks opted for termination of pregnancy. During 2014-2016, 61 fetuses had a prenatal diagnosis of a critical congenital heart defect and a further 47 were diagnosed after birth, hence 56% were diagnosed prenatally, 82% for those which had a combination with an extracardiac abnormality and/or chromosomal aberration compared to 50% if an isolated critical congenital heart defect was diagnosed. For single ventricle cardiac defects such as hypoplastic left heart syndrome, double inlet left ventricle and tricuspid atresia, the detection rate was 100%. The detection rate for transposition of the great arteries and coarctation of the aorta was 9 and 18% respectively. CONCLUSIONS: 56% of all fetuses with a critical congenital heart defect were diagnosed prenatally during 2014-2016 and approximately 53% of all major congenital heart defects 2013-2017 as compared to 13.8% in 2009 in the same region. An increased focus towards the fetal heart in the routine scan improved the prenatal detection rate of major congenital heart defects. The detection of congenital heart defects affecting the four-chamber view seems sufficient, but more training is needed to improve the quality of the examination of the outflow tracts.

Low false-positive rate of perfusion index as a screening tool for neonatal aortic coarctation.

AIM: Adding perfusion index (PI) to pulse oximetry screening (POS) may increase neonatal detection of CoA (aortic coarctation). A cut-off <0.7% has been suggested but is associated with a high rate of false positives. We aimed to evaluate the specificity of PI when using repeated instead of single measurements. METHODS: A pilot study was conducted in 50 neonates. PI was recorded in right hand and a foot by pulse oximeter. If PI was <0.7%, the measurement was immediately repeated up to 3 times. If all three measurements were <0.7% in hand and/or foot the screen was positive and echocardiography was performed. There were 3/50 false-positive screens. The protocol was therefore modified requiring 30 min intervals between measurements. RESULTS: An additional 463 neonates were included using the modified protocol at a median age of 18 h. There were no false positives. The only neonate with CoA had a negative screen (PI hand 1.2% and foot 0.8%). The measurement required on average an extra 3 min and 30 s compared with POS only. CONCLUSION: The false-positive rate of PI was reduced by using repeated PI measurements. The sensitivity for CoA using this protocol should be evaluated in large-scale prospective studies.

Echocardiographic Predictors of Recoarctation After Surgical Repair: A Swedish National Study.

BACKGROUND: After surgical repair of aortic coarctation (CoA) there is a risk for restenosis (reCoA), particularly in the first year of life. This study aimed to identify reCoA risk factors by analyzing postoperative predischarge echocardiograms. METHODS: This was a retrospective analysis of echocardiograms of children born operated on for CoA in Sweden in 2011 to 2017. RESULTS: A total of 253 children were included. Median age at surgery was 10 days; median follow-up was 4.6 years. Risk for restenosis occurred in 34 patients (13%; 74% by 6 months and 91% by 12 months). We generated 2 reCoA risk models applying aortic dimensions and the respective Z-scores combined with surgical and demographic factors. We defined reCoA risk categories as low (≤10%), moderate (11% to 29%), moderate to high (30% to 49%), or high (≥50%). Patients with either isthmus of 3.3 mm or less (1- and 5-year event-free survival of 38% and 32%, respectively) or isthmus Z-score of -2.8 or less with a weight at surgery of less than 4.4 kg (1- and 5-year event free survival of 21% and 16%, respectively) were at highest risk for reCoA. Conversely, patients at low risk had isthmus greater than 3.7 mm and distal aortic arch greater than 3.5mm (1- and 5-year event free survival of 97% and 97%, respectively), and isthmus and proximal aortic arch Z-score greater than -2.8 or operative weight greater than 4.4 kg with an isthmus Z-score of -2.8 or less (1- and 5-year event-free survival of 97% and 97%, respectively). CONCLUSIONS: Risk for reCoA can be predicted based on postoperative predischarge echocardiographic variables combined with surgical and demographic factors. We suggest tailoring follow-up intervals individually according to the predicted reCoA risk.

Low risk of necrotising enterocolitis in enterally fed neonates with critical heart disease: an observational study.

OBJECTIVE: We aimed to investigate the frequency of necrotising enterocolitis (NEC) in infants with critical congenital heart disease (CCHD) hypothesising that preoperative enteral feeding does not increase the risk of NEC. BACKGROUND: When NEC affects term infants, underlying risk factors such as asphyxia, sepsis or CCHD are often found. Due to fear of NEC development in infants with CCHD great caution is practised in many countries to defer preoperative enteral feeding, but in Sweden this is routinely provided. DESIGN, SETTING AND PATIENTS: An observational study of all infants born with CCHD who were admitted to Queen Silvia Children's Hospital in Gothenburg between 2010 and 2017. The International Classification of Diseases 10th Revision diagnosis code of NEC was used to identify NEC cases in this group. Infants described as 'fully fed' or who were fed at least 45 mL/kg/day before cardiac surgery were identified. MAIN OUTCOME MEASURES: NEC in infants with CCHD in relation to preoperative enteral feeding. RESULTS: There were 458 infants with CCHD admitted during the study period. 408/458 were born at term and 361/458 required prostaglandin E1 before surgery. In total, 444/458 infants (97%) were fully fed or fed at least 45 mL/kg daily before cardiac surgery. Four of 458 infants developed NEC (0.9%). All four had other risk factors for NEC. CONCLUSIONS: This study showed a low risk of NEC in term infants fed enterally before cardiac surgery. We speculate that preoperative enteral feeding of neonates with CCHD does not increase the risk of NEC development.

Transplantation-free survival after Norwood surgery for hypoplastic left heart syndrome with aortic atresia: A Swedish national cohort study.

BACKGROUND: Norwood surgery has been available in Sweden since 1993. In this national cohort study, we analysed transplantation-free survival after Norwood surgery for hypoplastic left heart syndrome with aortic atresia. METHODS: Patients were identified from the complete national cohort of live-born with hypoplastic left heart syndrome/aortic atresia 1993-2010. Analysis of survival after surgery was performed using Cox proportional hazards models for the total cohort and for birth period and gender separately. Thirty-day mortality and inter-stage mortality were analysed. Patients were followed until September 2016. RESULTS: The 1993-2010 cohort consisted of 208 live-born infants. Norwood surgery was performed in 121/208 (58%). The overall transplantation-free survival was 61/121 (50%). The survival was higher in the late period (10-year survival 63%) than in the early period (10-year survival 40%) (p = 0.010) and lower for female (10-year survival 34%) than for male patients (10-year survival 59%) (p = 0.002). Inter-stage mortality between stages I and II decreased from 23 to 8% (p = 0.008). For male patients, low birthweight in relation to gestational age was a factor associated with poor outcome. CONCLUSION: The survival after Norwood surgery for hypoplastic left heart syndrome/aortic atresia improved by era of surgery, mainly explained by improved survival between stages I and II. Female gender was a significant risk factor for death or transplantation. For male patients, there was an increased risk of death when birthweight was lower than expected in relation to gestational age.

Parental reactions, distress, and sense of coherence after prenatal versus postnatal diagnosis of complex congenital heart disease.

INTRODUCTION: A diagnosis of congenital heart disease (CHD) in offspring triggers psychological distress in parents. Results of previous studies have been inconsistent regarding the psychological impact of a prenatal versus a postnatal diagnosis. The aim of this study was to evaluate the influence of the time of diagnosis on levels of parental distress. METHODS: Pregnant women and their partners with a fetus diagnosed with complex CHD, parents of children with postnatally diagnosed CHD, and pregnant women and their partners with uncomplicated pregnancies were invited to participate. Data were collected during pregnancy and 2-6 months after delivery using the Hospital Anxiety and Depression Scale, sense of coherence, life satisfaction, and Dyadic Adjustment Scale. RESULTS: During pregnancy, the prenatal group scored lower sense of coherence compared to controls (p=0.044). Postnatally the prenatal group scored lower on sense of coherence compared to the postnatal group and controls (p=0.001; p=0.001). Postnatally, the prenatal and postnatal groups had higher levels of anxiety compared to controls (p=0.025; p=0.0003). Life satisfaction was lower in the prenatal group compared to that in the postnatal group and in controls (p=0.000; p=0.0004). CONCLUSION: Parents with a prenatal diagnosis of CHD in offspring report a low sense of coherence already during pregnancy which decreased further at follow-up. The same group reported a lower satisfaction with life compared to parents of a child with postnatal diagnosis of CHD and parents of a healthy child. This motivates further efforts to improve counselling and support during pregnancy and for parents after a prenatal diagnosis.

Changing Epidemiology of Hypoplastic Left Heart Syndrome: Results of a National Swedish Cohort Study.

Background Norwood surgery provides a palliative surgical option for hypoplastic left heart syndrome and has been available in Sweden since 1993. The practice of prenatal ultrasound screening was gradually implemented in the same era, resulting in an increased prenatal detection rate. Our primary aims were to study changes in the incidence of live births, prenatal detection rate, and the termination of pregnancies over time. The secondary aims were to study the proportion of live-borns undergoing surgery and to identify factors that influenced whether surgery was or was not performed. Methods and Results Neonates with hypoplastic left heart syndrome with aortic atresia born 1990-2010 were identified through national databases, surgical files, and medical records. The fetal incidence was estimated from the period when prenatal screening was rudimentary. The study period was divided into the presurgical, early surgical, and late surgical periods. The incidence was calculated as the overall yearly incidence for each time period and sex separately. Factors influencing whether surgery was performed were analyzed using Cox-logistic regression. The incidence at live birth decreased from 15.4 to 8.4 per 100 000. The prenatal detection rate increased from 27% to 63%, and terminations increased from 19% to 56%. The odds of having surgery was higher in the late period and higher in the group with prenatal diagnosis. Conclusions We observed a decrease in incidence of live-borns with hypoplastic left heart syndrome aortic atresia. There was in increase in prenatal detection rate and an increase in termination of pregnancy. The proportion of live-borns who underwent surgery increased between time periods.

Coarctation repair normalizes left ventricular function and aorto-septal angle in neonates.

BACKGROUND AND AIMS: Patients with coarctation of the aorta (CoA) have increased left ventricular (LV) afterload that has been shown to impact the LV and ascending aortic function. We aimed to examine the effect of coarctation on LV function and aorto-septal angle (AoSA) before and after surgical repair. METHODS: We retrospectively studied 21 patients with surgically repaired CoA at a median age of 9 (2-53) days at three time points: (1) just before intervention, (2) at short-term follow-up, and (3) at medium-term follow-up after intervention. AoSA was measured from the parasternal long axis view, at three time points during the cardiac cycle: (1) end diastole, (2) beginning of systole, and (3) at peak ejection in the descending aorta. In addition to conventional LV structure and function, global longitudinal strain, and strain rate were measured using STE technique and Tomtec software. Three groups of age matched healthy children served as controls at each time point. RESULTS: AoSA was significantly wider before intervention, in particular at peak ejection in the descending aorta (144° ± 6.4° vs. 136° ± 4.1°; P < .0001), and correlated with CoA pressure gradient. After intervention, AoSA normalized and significantly correlated with the increase of LV cavity function and overall LV deformation parameters. CONCLUSIONS: AoSA is abnormally wide in neonates with CoA and is associated with severity of obstruction, LV dysfunction and compromised LV global deformation.

Persistent reduced myocardial deformation in neonates after CoA repair.

INTRODUCTION: Surgical repair of coarctation of the aorta (CoA) is a safe procedure in children, however the condition is known for its potential recurrence and other related complications. The available evidence shows abnormal intrinsic properties of the aorta in CoA, thus suggesting additional effect, even after CoA repair, on left ventricular (LV) function. Accordingly, we sought to obtain a better understanding of LV myocardial mechanics in very early-corrected CoA using two-dimensional STE. METHODS AND RESULTS: We retrospectively studied 21 patients with corrected CoA at a median age of 9 (2-53) days at three time points: 1) just before intervention, 2) at short-term follow-up and 3) at medium-term follow-up after intervention and compared them with normal values. Speckle tracking analysis was conducted via vendor independent software, Tomtec. After intervention, LV function significantly improved (from -12.8±3.9 to -16.7±1.7; p<0.001), however normal values were not reached even at medium term follow-up (-18.3±1.7 vs. -20±1.6; p=0.002). Medium term longitudinal strain correlated with pre intervention EF (r=0.58, p=0.006). Moreover, medium term subnormal values were more frequently associated with bicuspid aortic valve (33.3% vs. 66.6%; p<0.05). CONCLUSION: LV myocardial function in neonates with CoA can be feasibly evaluated and followed up by speckle tracking echocardiography. LV subendocardial dysfunction however, remains in early infancy coarctation long after repair. Long-term follow-up through adulthood using myocardial deformation measurements should shed light on the natural history and consequences of this anomaly.

Parent's experiences of counselling and their need for support following a prenatal diagnosis of congenital heart disease--a qualitative study in a Swedish context.

BACKGROUND: Prenatal screening for foetal cardiac abnormalities has been increasingly practiced in Sweden during the last 25 years. A prenatal diagnosis may have medical benefits but may also cause sustained parental psychological distress. The aim of this study was to explore pregnant women's, and their partner's, experiences of counselling and need for support during continued pregnancy following a prenatal diagnosis of a cardiac defect. A second aim was to use this information to propose a structured follow-up programme for continued support after the first counselling. DESIGN: Qualitative study, using interviews performed 5-9 weeks after a prenatal diagnosis of congenital heart disease. SETTING: A tertiary foetal cardiology unit in Sweden Sample: Six pregnant women and their 6 partners, consecutively recruited after a prenatal diagnosis of an isolated and significant cardiac defect. DATA ANALYSIS: Qualitative content analysis. RESULTS: The analysis resulted in three themes. 1/ Counselling and making a decision--the importance of knowledge and understanding: Short waiting time for specialist evaluation together with clear and straightforward information was essential. Parents called for written information together with a high-quality website with relevant information about congenital heart disease. 2/ Continued support during pregnancy: Continued and easy access to health care professionals, including a paediatric specialist nurse, throughout pregnancy, was important. Contact with couples with similar experiences and social media were also considered valuable sources of support. 3/ Next step--the near future: Practical and economical issues during the postnatal hospital stay and the initial period following the hospital stay were common concerns. CONCLUSIONS: The following aspects should be considered in a structured follow up program during pregnancy after a prenatal diagnosis of CHD; written information, access to a safe web-site with information of high quality in their native language, support from parents with similar experiences and continued contact with a specialist liaison nurse with experience of paediatric cardiology.

Late Diagnosis of Coarctation Despite Prenatal Ultrasound and Postnatal Pulse Oximetry.

OBJECTIVES: To determine what contribution prenatal ultrasound screening and neonatal pulse oximetry screening (POS) make to the timely diagnosis of neonatal coarctation of the aorta (CoA). METHODS: We identified infants and fetuses diagnosed with isolated CoA in our referral area between 2003 and 2012 who died without surgery, underwent surgical repair before 2 months of age, or were terminated after a prenatal diagnosis. Clinical data were collected from hospital charts. RESULTS: Only 3 of the 90 cases were diagnosed prenatally. Two of the 3 were born alive and in 1 case the couple opted for termination of pregnancy. Nineteen of the remaining 87 cases were born in units that used POS (hand and foot) and 4 of 19 screened positive. Of the remaining 83 cases, 46 were discharged undiagnosed (7 after nondiagnostic echocardiography), including 9 with a murmur and weak femoral pulses and 8 with a murmur and normal pulses. One was diagnosed postmortem after dying at home, and 22 of the remaining 45 discharged infants were in circulatory failure on readmission. Five of the patients who were not discharged died without surgery and undiagnosed CoA was the most probable cause of death in 2 of these patients. CONCLUSIONS: The contribution of prenatal ultrasound screening and postnatal POS to the timely diagnosis of CoA was low. Careful physical examination of all newborns therefore continues to play a fundamental role in detecting this life-threatening cardiac defect, and better screening methods need to be developed.

Foetal tachyarrhythmia treatment remains challenging even if the vast majority of cases have a favourable outcome.

AIM: The optimal treatment for foetal tachyarrhythmia remains controversial, and this study aimed to fill this gap in the knowledge. METHODS: We retrospectively reviewed all cases of foetal tachyarrhythmia diagnosed at two tertiary foetal cardiology centres in Sweden from 1990 to 2012. RESULTS: Of the 153 cases, 28% had atrial flutter (AF), 63% had atrioventricular reentrant tachycardia (AVRT) and 9% had other mechanisms. Hydrops was present in 45, less frequently in AF than in AVRT. Transplacental treatment was commenced in 99 and the rhythm normalised in two-thirds, without any significant difference in cardioversion rates between AF and AVRT cases or nonhydropic and hydropic foetuses. Sotalol treatment had a higher cardioversion rate than digoxin in AVRT (63% versus 33%, p < 0.05) but not in AF (57% versus 56%). Two or more drugs were used in 38%. Neonatal survival was 100% in nonhydropic and 84% in hydropic cases. After a median of eight years, 11/134 patients still had arrhythmias, one had died due to arrhythmia and another had undergone cardiac transplantation. CONCLUSION: Transplacental treatment was frequently insufficient to obtain cardioversion in nonhydropic and hydropic foetuses, but all nonhydropic cases had favourable outcomes. Larger prospective studies are needed to optimise the treatment of cases with hydrops.

Pulse oximetry screening and prenatal diagnosis play complementary roles in reducing risks in simple transposition of the great arteries.

AIM: This study quantified the contribution of pulse oximetry screening to an early diagnosis of simple transposition. We also estimated the proportion of neonates with this life-threatening cardiac defect who could benefit from prenatal diagnosis, even when pulse oximetry screening had been implemented. METHODS: This population-based, retrospective, cohort study of cases born from 2003 to 2013 used data from surgical files, the Swedish Causes of Death Registry and the National Forensic Medicine database. The main outcome measures were early postnatal circulatory instability, pre-operative death, neurological morbidity and risk of discharge before diagnosis. RESULTS: We identified 89 cases, including three diagnosed prenatally. Hospitals using pulse oximetry screening diagnosed all 31 neonates before discharge, including seven as a result of screening, but 10 of 55 infants in the nonscreening hospitals were discharged undiagnosed (p = 0.017). Prenatal diagnosis could have decreased the risk of early circulatory instability, pre-operative death or neurological morbidity in 12 of the 72 infants born in referring hospitals (17%). There was one pre-operative death and no postoperative deaths at a mean follow-up of 4.7 years. CONCLUSION: Pulse oximetry screening minimised the risk of discharging infants with transposition, but prenatal diagnosis would have been necessary to avoid early circulatory instability in 17% of cases.

Foetal therapy, what works? An overview.

The update course in foetal cardiology held by the Fetal Working Group of the Association for European Paediatric and Congenital Cardiology in Istanbul in May 2012 included a session on foetal cardiac therapy. In the introductory overview to this symposium, we critically examine the level of evidence supporting or refuting proposed foetal cardiac therapies including transplacental treatment of foetal tachyarrhythmias, steroid treatment in foetal atrioventricular block, and foetal aortic valvuloplasty. In summary, the evidence for the efficiency and safety of currently available foetal cardiac therapies is low, with no therapy based on a randomised controlled trial. Transplacental treatment of foetal tachycardia is generally accepted as effective and safe, based on extensive and widespread clinical experience; however, there is no consensus on which drugs are the most effective in different electrophysiological situations. Randomised studies may be able to resolve this, but this is complicated because tachyarrhythmias are relatively rare conditions, the foetus is not accessible for direct treatment, and it is the healthy mother who accepts treatment she does not need on behalf of her foetus. The indications for steroid treatment in foetal atrioventricular block and for foetal valvuloplasty are even more controversial. Although randomised trials would be desirable, the practical issues of recruiting sufficient sample sizes and controlling for variation in practice across multiple sites is not to be underestimated. Multicentre registries, analysed free of bias, may be an alternative way to improve the evidence base of foetal cardiac therapy.