Hitzeroth H W, Niehaus C E, Brill D C
Genetic Services, Department of National Health and Population Development, Pretoria.
S Afr Med J. 1995 Jan;85(1):33-6.
During the 1980s a pilot newborn screening programme for the early detection (and treatment) of amino acidopathies, especially phenylketonuria (PKU), was conducted by the Department of National Health and Population Development. The motivation for this pilot programme was the high priority accorded PKU screening in Europe and North America and the presumed similarly high incidence of this condition among South Africans of European origin. From a cohort of 59,600 newborns screened in the Pretoria area over a period of 8 consecutive years (1979-1986), only 1 case of PKU (and 1 of tyrosinaemia) was found. Statistically this result is compatible (Poisson distribution, 95% confidence interval) with a 'true' incidence of not more than 3/59,600 (or about 1/20,000) newborns. It is concluded from this result and other relevant information that newborn screening for PKU and other amino acidopathies is not cost-effective and justifiable, especially against the background of prevailing demographic conditions and more pressing health priorities in South Africa. This particular screening programme was discontinued in 1986. The results and conclusions are presented here for the record.
20世纪80年代，国家卫生与人口发展部开展了一项新生儿筛查试点项目，旨在早期发现（并治疗）氨基酸代谢病，尤其是苯丙酮尿症（PKU）。开展该试点项目的动机是欧洲和北美对PKU筛查给予高度重视，且推测欧洲裔南非人患这种疾病的发病率同样很高。在比勒陀利亚地区连续8年（1979 - 1986年）筛查的59,600名新生儿队列中，仅发现1例PKU（和1例酪氨酸血症）。从统计学角度看，这一结果（泊松分布，95%置信区间）与“真实”发病率不超过3/59,600（约1/20,000）新生儿相符。根据这一结果及其他相关信息得出结论，对PKU和其他氨基酸代谢病进行新生儿筛查不具有成本效益且不合理，尤其是在南非当前的人口状况及更紧迫的卫生优先事项背景下。这个特定的筛查项目于1986年停止。现将结果和结论记录于此。
