ABSTRACT
Since 1961, newborn screening for errors of metabolism (EM) has improved the diagnosis, treatment and outcome of newborns with an EM. Recently, advances in laboratory technology with tandem mass spectrometry (MS/MS) has increased the identification of newborns with an EM. With a single dried filter paper blood spot (Guthrie R, Susi A. A simple phenylalanine method for detecting PKU in large populations of newborn infants. Pediatrics. 1963;32:338-343), MS/MS can identify more than 30 disorders of metabolism. This review will explore MS/MS to provide a better understanding of the development and application of this technology to newborn screening for perinatal and neonatal nurses.
Subject(s)
Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acid Metabolism, Inborn Errors/nursing , Neonatal Nursing/standards , Neonatal Screening , Spectrometry, Mass, Electrospray Ionization , Female , Humans , Infant, Newborn , Intellectual Disability/genetics , Intellectual Disability/prevention & control , Neonatal Screening/methods , Nursing Methodology Research , Pregnancy , Sensitivity and Specificity , Spectrometry, Mass, Electrospray Ionization/methods , Spectrometry, Mass, Electrospray Ionization/standards , United StatesSubject(s)
Amino Acid Metabolism, Inborn Errors/nursing , Child Nutritional Physiological Phenomena , Cystic Fibrosis/diet therapy , Cystic Fibrosis/nursing , Galactosemias/diet therapy , Galactosemias/nursing , Phenylketonurias/nursing , Prader-Willi Syndrome/diet therapy , Prader-Willi Syndrome/nursing , School Nursing/methods , Amino Acid Metabolism, Inborn Errors/diet therapy , Amino Acid Metabolism, Inborn Errors/genetics , Child , Cystic Fibrosis/genetics , Galactosemias/genetics , Humans , Phenylketonurias/diet therapy , Phenylketonurias/genetics , Prader-Willi Syndrome/geneticsSubject(s)
Amino Acid Metabolism, Inborn Errors/diagnosis , Methylmalonic Acid/blood , Amino Acid Metabolism, Inborn Errors/nursing , Amino Acid Metabolism, Inborn Errors/physiopathology , Humans , Infant , Male , Nursing Diagnosis , Parents/education , Seizures/diagnosis , Seizures/nursing , Seizures/physiopathologyABSTRACT
Early identification of symptoms consistent with a urea cycle disorder is crucial to ensure rapid initiation of therapy which, in turn, promotes the best possible prognosis for the newborn. Acute management may include the technological interventions of exchange transfusion, peritoneal dialysis or hemodialysis, prevention and treatment of seizures, prevention and/or treatment of increased intracranial pressure, and complex nutritional support with amino acids and/or essential enzymes. Long-term nursing management will also include identifying and providing supports for the family, promoting the integration of the infant into the family, and promoting infant growth and development.
