RESUMO
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.
Assuntos
Biomarcadores , Teste em Amostras de Sangue Seco , Cardiopatias Congênitas , Peptídeo Natriurético Encefálico , Triagem Neonatal , Humanos , Recém-Nascido , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/sangue , Triagem Neonatal/métodos , Teste em Amostras de Sangue Seco/métodos , Biomarcadores/sangue , Feminino , Masculino , Suécia , Peptídeo Natriurético Encefálico/sangue , Fragmentos de Peptídeos/sangue , Estudos de Casos e Controles , Proteína 1 Semelhante a Receptor de Interleucina-1/sangueRESUMO
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.
RESUMO
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.
Assuntos
Coartação Aórtica , Cardiopatias Congênitas , Coartação Aórtica/diagnóstico por imagem , Humanos , Recém-Nascido , Triagem Neonatal , Oximetria , Índice de Perfusão , Projetos Piloto , Estudos ProspectivosRESUMO
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.
Assuntos
Nutrição Enteral/efeitos adversos , Enterocolite Necrosante/etiologia , Cardiopatias Congênitas/cirurgia , Cuidados Pré-Operatórios , Alprostadil/uso terapêutico , Idade Gestacional , Cardiopatias Congênitas/fisiopatologia , Humanos , Recém-Nascido , Estudos Retrospectivos , Fatores de Risco , Suécia , Vasodilatadores/uso terapêuticoRESUMO
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.
Assuntos
Coartação Aórtica/cirurgia , Contração Miocárdica , Volume Sistólico , Disfunção Ventricular Esquerda/fisiopatologia , Função Ventricular Esquerda , Coartação Aórtica/complicações , Coartação Aórtica/diagnóstico por imagem , Coartação Aórtica/fisiopatologia , Fenômenos Biomecânicos , Ecocardiografia Doppler , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Valor Preditivo dos Testes , Recuperação de Função Fisiológica , Estudos Retrospectivos , Estresse Mecânico , Fatores de Tempo , Resultado do Tratamento , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/etiologiaRESUMO
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.
Assuntos
Coartação Aórtica/diagnóstico por imagem , Coartação Aórtica/cirurgia , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/cirurgia , Ecocardiografia/tendências , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Estudos RetrospectivosRESUMO
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.
Assuntos
Coartação Aórtica/diagnóstico , Diagnóstico Tardio , Triagem Neonatal , Oximetria , Ultrassonografia Pré-Natal , Estudos de Coortes , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Estudos RetrospectivosRESUMO
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.