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In newborn intensive care units (NICUs), the science and art of prognostication often have life and death implications. Approximately 5% of infants admitted to NICU die.1 The majority of deaths are preceded by decisions to withdraw or withhold life-sustaining treatment,1 following discussions between the family and clinical team. These decisions are based on an assessment of an infant's chance of survival and on the predicted duration and nature of the infant's survival if treatment is provided.2
A variety of clinical, biochemical, genetic and radiological tests have traditionally been employed to estimate prognosis in the NICU. While chromosomal microarray is now commonly used for critically ill neonates with congenital malformations, new forms of genetic and genomic testing3 have started to become available in intensive care.4 They could aid critical care decision-making by predicting functional outcome, important comorbidities5 or poor prognosis despite treatment4 (box 1).
Genomic testing and ethical dilemmas: hypothetical case studies
A term newborn infant is born in poor condition in the setting of meconium-stained liquor and variable decelerations. The infant requires resuscitation, including intubation and is transferred to the neonatal intensive care unit. The infant has early evidence of encephalopathy with refractory seizures. Should the infant have rapid whole genome or exome sequencing to look for a possible underlying inborn error of metabolism or epileptic encephalopathy?4
A newborn infant is born extremely preterm at 24 weeks’ gestation. At 1 week of age, the infant remains critically unwell, and has developed evidence of sepsis and necrotising enterocolitis. Chromosomal microarray testing had been performed on cord blood, and now reveals a microdeletion that has been associated with an increased risk of autism and schizophrenia. Should this information be revealed to the infant's parents? Should it be used in decision-making about continuation of …
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Contributors DW had primary responsibility for conceiving of this paper, reviewing literature, writing the first draft and editing the manuscript. AJN contributed to this paper's draft outline, suggested literature and content, contributed to ethical analysis, writing of the manuscript and approved the final draft. CB and JS contributed to ethical analysis, writing of the manuscript and approved the final draft.
Funding DW was supported for part of this work by an early career fellowship from the Australian National Health and Medical Research Council . DW and JS were supported by a grant from the Wellcome Trust, [086041/Z/08/Z].
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
Data sharing statement DW had full access to all the data in the study, and takes responsibility for the integrity of the data and the accuracy of the data analysis.
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