Pettersen R D, Saugstad O D, Heyerdahl S, Motzfeldt K, Lie S O
Pediatrisk forskningsinstitutt, Rikshospitalet, Oslo.
Tidsskr Nor Laegeforen. 1995 Feb 20;115(5):584-7.
The objective of neonatal screening for phenylketonuria and congenital hypothyroidism is early diagnosis and initiation of treatment to prevent brain damage and mental retardation. We present the results of the Norwegian national neonatal screening programme for phenylketonuria and congenital hypothyroidism. Screening for phenylketonuria based on serum phenylalanine determinations started in 1967 and covered the whole country in 1978. National screening for congenital hypothyroidism started in 1979. One hundred children with phenylketonuria and 280 children with a strong indication of congenital hypothyroidism have been detected up to 1 October 1994. Screening-related challenges and principles of treatment are discussed.
新生儿苯丙酮尿症和先天性甲状腺功能减退症筛查的目的是早期诊断并开始治疗，以预防脑损伤和智力发育迟缓。我们展示了挪威全国苯丙酮尿症和先天性甲状腺功能减退症新生儿筛查项目的结果。基于血清苯丙氨酸测定的苯丙酮尿症筛查始于1967年，并于1978年覆盖全国。先天性甲状腺功能减退症的全国筛查始于1979年。截至1994年10月1日，已检测出100例苯丙酮尿症患儿和280例有强烈先天性甲状腺功能减退症迹象的患儿。文中讨论了与筛查相关的挑战和治疗原则。
