Neonatal screening for metabolic, endocrine, infectious, and genetic disorders. Current and future directions.
There are good reasons to expect that future neonatal screening will expand both to include more disorders and to cover more of the global newborn population. Disorders for which neonatal screening will be given high priority in the health care field in the future are CH and PKU. Screening for CH is likely to expand faster than screening for PKU, especially in the developing world. In the future, screening for CAH will be practiced much more widely than today. Screening for CF is likely to qualify for routine neonatal screening in the future, especially if gene therapy becomes successful. Screening for infectious diseases is an area that is also developing rapidly. Which disorders to screen for neonatally will depend on a number of factors that are unique to each society, such as the prevalence, economy, and ethics. This must be realized when international guidelines are drafted. Technical development, which is of major importance for neonatal screening, includes MS-MS, different DNA techniques, and automation. The expansion of biomedical knowledge in a wide variety of fields will establish new grounds for neonatal screening.
Larsson
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Department of Pediatrics, Karolinska Institute, Huddinge University Hospital, Stockholm, Sweden. agne.larsson@klinvet.ki.se
D025063:Chromosome Disorders / Q000175:diagnosis; D003141:Communicable Diseases / Q000175:diagnosis; D004700:Endocrine System Diseases / Q000175:diagnosis; D017408:Guidelines as Topic; D006801:Humans; D007231:Infant, Newborn; D008659:Metabolic Diseases / Q000175:diagnosis; D015997:Neonatal Screening / Q000379:methods* / Q000592:standards / Q000639:trends