Holton J B
Department of Clinical Chemistry, Southmead Hospital, Bristol.
Br J Hosp Med. 1988 Apr;39(4):317-9, 322-4.
Neonatal screening for phenylketonuria and hypothyroidism is well established in most developed countries but there is no clear agreement on which other disorders, if any, should be added to screening programmes. This article describes the basic principles involved and looks at a wide range of diseases which may be considered as candidates for neonatal screening.
在大多数发达国家,苯丙酮尿症和甲状腺功能减退症的新生儿筛查已得到广泛应用,但对于是否应将其他疾病(若有)纳入筛查项目,尚无明确共识。本文阐述了其中涉及的基本原则,并探讨了一系列可能被视为新生儿筛查候选疾病的病症。