ABSTRACT
PURPOSE:: The neonatologists of Sant'Anna and San Sebastiano Hospital of Caserta have carried out a pilot study investigating the safety, feasibility, and accuracy of intracavitary electrocardiography for neonatal epicutaneous cava catheter tip positioning. PATIENTS AND METHODS:: We enrolled 39 neonates (1-28 days of postnatal age or correct age lower than 41 weeks) requiring epicutaneous cava catheter in the district of superior vena cava (head-neck or upper limbs). Intracavitary electrocardiography was applicable in 38 neonates. RESULTS:: No significant complications related to intracavitary electrocardiography occurred in the studied neonates. The increase in P wave on intracavitary electrocardiography was detected in 30 cases. Of the remaining eight cases, six malpositioned catheters tipped out of cavoatrial junction-target zone (chest x-ray and echocardiographical control) and two were false negative (tip located in target zone). The match between intracavitary electrocardiography and x-ray was observed in 29/38 cases, and the same ratio between intracavitary electrocardiography and echocardiography was detected. CONCLUSION:: We conclude that the intracavitary electrocardiography method is safe and accurate in neonates as demonstrated in pediatric and adult patients. The applicability of the method is 97% and its feasibility is 79%. The overall accuracy is 76% but it rises to 97% if "peak" P wave is detected.
Subject(s)
Catheterization, Central Venous/methods , Catheterization, Peripheral/methods , Electrocardiography , Vena Cava, Superior , Catheterization, Central Venous/adverse effects , Catheterization, Central Venous/instrumentation , Catheterization, Peripheral/adverse effects , Catheterization, Peripheral/instrumentation , Catheters, Indwelling , Central Venous Catheters , Echocardiography , Feasibility Studies , Female , Humans , Infant, Newborn , Italy , Male , Pilot Projects , Predictive Value of Tests , Prospective Studies , Radiography, ThoracicABSTRACT
Inborn errors of metabolism are genetic disorders due to impaired activity of enzymes, transporters, or cofactors resulting in accumulation of abnormal metabolites proximal to the metabolic block, lack of essential products or accumulation of by-products. Many of these disorders have serious clinical consequences for affected neonates, and an early diagnosis allows presymptomatic treatment which can prevent severe permanent sequelae and in some cases death. Expanded newborn screening for these diseases is a promising field of targeted metabolomics. Here we report the application, between 2007 and 2014, of this approach to the identification of newborns in southern Italy at risk of developing a potentially fatal disease. The analysis of amino acids and acylcarnitines in dried blood spots by tandem mass spectrometry revealed 24 affected newborns among 45,466 infants evaluated between 48 and 72 hours of life (overall incidence: 1 : 1894). Diagnoses of newborns with elevated metabolites were confirmed by gas chromatography-mass spectrometry, biochemical studies, and genetic analysis. Five infants were diagnosed with medium-chain acyl CoA dehydrogenase deficiency, 1 with methylmalonic acidemia with homocystinuria type CblC, 2 with isolated methylmalonic acidemia, 1 with propionic acidemia, 1 with isovaleric academia, 1 with isobutyryl-CoA dehydrogenase deficiency, 1 with beta ketothiolase deficiency, 1 with short branched chain amino acid deficiency, 1 with 3-methlycrotonyl-CoA carboxylase deficiency, 1 with formimino-transferase cyclodeaminase deficiency, and 1 with cystathionine-beta-synthase deficiency. Seven cases of maternal vitamin B12 deficiency and 1 case of maternal carnitine uptake deficiency were detected. This study supports the widespread application of metabolomic-based newborn screening for these genetic diseases.
