Chromosomal microarray detects genetic risks of neurodevelopmental disorders in newborns with congenital heart disease.

OBJECTIVE: To compare the genetic testing results of neonates with CHD by chromosomal microarray to karyotyping and fluorescence in situ hybridisation analysis. METHODS: This was a single-centre retrospective comparative study of patients with CHD and available genetic testing results admitted to the cardiac ICU between January, 2004 and December, 2017. Patients from 2004 to 2010 were tested by karyotyping and fluorescence in situ hybridisation analysis, while patients from 2012 to 2017 were analysed by chromosomal microarray. RESULTS: Eight-hundred and forty-nine neonates with CHD underwent genetic testing, 482 by karyotyping and fluorescence in situ hybridization, and 367 by chromosomal microarray. In the karyotyping and fluorescence in situ hybridisation analysis group, 86/482 (17.8%) had genetic abnormalities detected, while in the chromosomal microarray group, 135/367 (36.8%) had genetic abnormalities detected (p < 0.00001). Of patients with abnormal chromosomal microarray results, 41/135 (30.4%) had genetic abnormality associated with neurodevelopmental disorders that were exclusively identified by chromosomal microarray. Conotruncal abnormalities were the most common diagnosis in both groups, with karyotyping and fluorescence in situ hybridisation analysis detecting genetic abnormalities in 26/160 (16.3%) patients and chromosomal microarray detecting abnormalities in 41/135 (30.4%) patients (p = 0.004). In patients with d-transposition of the great arteries, 0/68 (0%) were found to have genetic abnormalities by karyotyping and fluorescence in situ hybridisation compared to 7/54 (13.0%) by chromosomal microarray. CONCLUSIONS: Chromosomal microarray identified patients with CHD at genetic risk of neurodevelopmental disorders, allowing earlier intervention with multidisciplinary care and more accurate pre-surgical prognostic counselling.

Risk factors and outcomes for hyperbilirubinaemia after heart surgery in children.

INTRODUCTION: Liver dysfunction, associated with morbidity and mortality, is common in patients with CHD. We investigate risk factors for and outcomes of hyperbilirubinaemia in neonates and infants after cardiac surgery. MATERIALS AND METHODS: In a retrospective analysis of neonates and infants undergoing cardiac surgery at our institution between January 2013 and December 2017, we identified those with post-operative conjugated hyperbilirubinaemia. We tested various demographic and surgical risk factors, and use of post-operative interventions, for an association with conjugated hyperbilirubinaemia. We also tested hyperbilirubinaemia for association with post-operative mortality and prolonged length of stay. RESULTS: We identified 242 post-operative admissions, of which 45 (19%) had conjugated hyperbilirubinaemia. The average conjugated bilirubin level in this group was 2.0 mg/dl versus 0.3 mg/dl for peers without hyperbilirubinaemia. The post-operative use of both extracorporeal membrane oxygenation (OR 4.97, 95% CI 1.89-13.5, p = 0.001) and total parenteral nutrition (OR 2.98, 95% CI 1.34-7.17, p = 0.010) was associated with conjugated hyperbilirubinaemia. No demographic variable analysed was found to be a risk factor. Hyperbilirubinaemia was associated with higher odds of mortality (OR 3.74, 95% CI 2.69-13.8, p = 0.005) and prolonged length of stay (OR 2.87, 95% CI 2.02-7.97, p = 0.005), which were independent of other risk factors. DISCUSSION: We identified the post-operative use of total parenteral nutrition and extracorporeal membrane oxygenation as risk factors for hyperbilirubinaemia. These patients were more likely to experience morbidity and mortality than control peers. As such, bilirubin may be marker for elevated risk of poor post-operative outcomes and should be more frequently measured after cardiac surgery.

Risk Factors for Longer Hospital Stay Following the Fontan Operation.

OBJECTIVES: Children with functional single ventricle undergoing the Fontan operation consume considerable resources. The purpose of this study is to evaluate pre- and intraoperative risk factors for longer hospital stay and to describe the perioperative course at a single institution over a 15-year period. DESIGN: Retrospective cohort study. SETTING: A single pediatric cardiac ICU. PATIENTS: All consecutive patients undergoing a first-time Fontan operation from 2000 to 2014. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Prolonged length of stay was defined as hospital stay greater than 75 percentile at our institution after surgery. Of 218 patients who met inclusion criteria, median length of stay was 10 days (interquartile range, 8-14 d); prolonged length of stay was defined greater than or equal to 15 days. Independent pre- and intraoperative risk factors for prolonged length of stay included higher hemoglobin (odds ratio, 1.29; p = 0.003), higher mean pulmonary artery pressure (odds ratio, 1.14; p = 0.037), and lower aortic saturation (odds ratio, 0.92; p = 0.008) in the entire group. When patients with hepatic vein inclusion (following previous Kawashima) were excluded, higher hemoglobin (odds ratio, 1.24; p = 0.027), lower aortic saturation (odds ratio, 0.92; p = 0.017), and placement of a fenestration (odds ratio, 2.438; p = 0.021) were associated with prolonged length of stay. Fifty-eight patients (26.6%) had major complications defined by Pediatric Cardiac Critical Care Consortium. Placement of a fenestration (odds ratio, 2.297; p = 0.014) and longer aortic cross-clamp time (odds ratio, 1.015; p = 0.003) were independently associated with Pediatric Cardiac Critical Care Consortium major complications. CONCLUSIONS: In this series, 75% of patients had a postoperative length of stay less than or equal to 2 weeks. Preoperative factors suggesting worse hypoxemia/decreased pulmonary blood flow (higher hemoglobin and lower oxygen saturation) and increased pulmonary artery pressure were associated with prolonged length of stay. These findings may help risk stratify this complex patient population, provide more accurate family counseling, and provide preliminary data for changes in preoperative timing of the Fontan and/or changes to postoperative management strategies for those at high risk for increased ICU morbidity.