Simonsen H, Brandt N J, Nørgaard-Pedersen B
Statens Serum Institut, klinisk biokemisk afdeling, København.
Ugeskr Laeger. 1998 Sep 28;160(40):5777-82.
In Denmark, the Faroe Islands, and Greenland, comprehensive screening of newborns for phenylketonuria and congenital hypothyroidism has been carried out for 20 years. The screening programme has detected 98 and 356 patients, respectively, corresponding to incidences of 1:12,000 and 1:3,400. The future savings on health care expenditures resulting from one year of neonatal screening are estimated to be 196 million DKK in present day value, which is 28 times higher than the cost of screening. The screening samples are stored in a biobank, which is used in diagnosis of congenital diseases and infant deaths and for development of future screening methods. It is desirable to expand the existing screening programme to include a range of rare inherited metabolic diseases, which collectively are frequent. This is realistic with the advent of tandem mass spectrometry, which allows cost-effective simultaneous screening for a group of inborn errors of metabolism.
在丹麦、法罗群岛和格陵兰，对新生儿进行苯丙酮尿症和先天性甲状腺功能减退症的全面筛查已开展了20年。筛查项目分别检测出98例和356例患者，发病率分别为1:12,000和1:3,400。新生儿筛查一年所节省的医疗保健支出的现值估计为1.96亿丹麦克朗，这比筛查成本高28倍。筛查样本存储在生物样本库中，用于先天性疾病诊断、婴儿死亡诊断以及未来筛查方法的开发。希望扩大现有筛查项目，纳入一系列罕见的遗传性代谢疾病，这些疾病总体上较为常见。随着串联质谱技术的出现，这一目标变得切实可行，该技术能够经济高效地同时筛查一组先天性代谢缺陷疾病。
