期刊
PEDIATRIC CLINICS OF NORTH AMERICA
卷 66, 期 2, 页码 369-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.pcl.2018.12.007
关键词
Newborn screening; Inborn errors of metabolism; Tandem mass spectroscopy; Dried blood spot; ACMG ACT sheets
类别
资金
- State of Michigan/Michigan Department of Health and Human Services Metabolic Clinic Grant
- 2017 ACMG Foundation/Shire Medical Biochemical Genetics Subspecialty Fellowship Award
Newborn screening has evolved since its introduction in 1963. The disorders that are being screened for continue to evolve as new treatments and new technologies advance. In this review, the authors discuss the current state of newborn screening in the United States, including the disorders currently being screened for and how newborn screening is performed. They also discuss the special considerations and limitations of newborn screening in sick and premature infants and as well as some ethical issues related to newborn screening. Finally, new disorders being considered for testing and new technologies that may be used in the future of newborn screening are discussed.
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