Ellis G, Wilcock A R, Goldberg D M
Arch Dis Child. 1972 Feb;47(251):34-40. doi: 10.1136/adc.47.251.34.
Results are reported of a screening programme for galactosaemia covering a period of 2½ years and 6415 births. The gene frequency for galactosaemia estimated from the data of the screening programme was 0·002. This conflicted with the known live-birth incidence of at least 1: 50,000 during this same period. 2 of the 4 galactosaemic infants concerned died under circumstances that were preventable had they been screened at birth. The need to screen all sick infants for galactosaemia is emphasized, as is the requirement for reliable information on its incidence in Great Britain. The screening test employed (Beutler and Baluda, 1966a) seemed appropriate for this purpose. It was simple to perform and apparently accurate in galactosaemic infants. Its accuracy in detecting heterozygotes is uncertain. This test should be available in all hospitals receiving sick neonates.
报告了一项为期两年半、涵盖6415例出生病例的半乳糖血症筛查项目的结果。根据筛查项目数据估算的半乳糖血症基因频率为0.002。这与同一时期已知的至少1:50000的活产发病率相冲突。4名患有半乳糖血症的婴儿中有2名在出生时若接受筛查本可预防的情况下死亡。强调了对所有患病婴儿进行半乳糖血症筛查的必要性，以及获取英国半乳糖血症发病率可靠信息的要求。所采用的筛查试验（Beutler和Baluda，1966a）似乎适用于此目的。该试验操作简单，对半乳糖血症婴儿显然准确。其检测杂合子的准确性尚不确定。所有接收患病新生儿的医院都应具备此检测方法。
