Not So Rare: Errors of Metabolism During the Neonatal Period

Sandra A. Banta-Wright, MN, RNC, NNP; Robert D. Steiner, MD


NAINR. 2003;3(4) 

In This Article

Evaluation of the Severely Ill Neonate Near Death

In some situations, such as severe early onset, late-diagnosed OTC, survival of thh newborn may be impossible. In most neonatal intensive care units, there is protocol ofor dealing with a dying newborn. However, there are several steps that must be taken to increase the probability of a specific diagnosis postmortem, when an EM is suspected.[84,85,86] The collection of blood, urine, and cerebrospinal fluid is outlined in Table 6 . Many of these samples may be collected before death. Parental permission for skin biopsy and autopsy must be requested and obtained. A full-thickness skin sample by 3 to 4 mm punch biopsy should be obtained, placed in tissue culture medium, kept at room temperature, and sent within 24 hours to the appropriate laboratory where the fibroblasts can be grown in culture. A skin biopsy is optimal if it can be done before death. A discussion with the parents regarding an autopsy for the purpose of investigation of a suspected EM needs to occur if possible before the newborn's death. Ideally, the autopsy should be performed less than 4 hours after death before postmortem changes can compromise the integrity of the enzyme system. At autopsy, samples of liver, spleen, muscle, heart, kidney, and brain should be obtained and stored in liquid nitrogen or at –70°C. Also readily available at autopsy, bile should be collected and frozen. A small amount of bile should be spotted on newborn filter paper to be used in the postmortem assay of acylcarnitines.[87] If there is a lack of urine, postmortem vitreous humor from the eye is easily collected by aspiration and subsequently frozen for electrolyte and organic acid-analysis.[89] Before shipment to laboratories, the laboratories should be notified of the precious samples that are being shipped to facilitate proper processing, storing, and analysis. These specimens are vital to provide resolution to the family for the cause of death. Parents need to be counseled regarding the recurrence risk for most of these disorders. In addition, they need to be made aware that, without a specific diagnosis, future prenatal diagnosis is impossible.


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