Balnaves M E, Bonacquisto L, Francis I, Glazner J, Forrest S
Victorian Clinical Genetics Service, Murdoch Institute, Royal Children's Hospital, Parkville, Melbourne, Australia.
J Med Genet. 1995 Jul;32(7):537-42. doi: 10.1136/jmg.32.7.537.
Newborn screening for cystic fibrosis (CF) by examining the levels of immunoreactive trypsinogen was introduced in Victoria in 1989. This was modified by the addition of testing for the common CF gene mutation, delta F508, in 1990. Problems with the first newborn screening protocol were overcome with the addition of the DNA test as there was no need to contact the majority of families, there was a reduced number of sweat tests, and less anxiety was experienced by parents. The mode of diagnosis changed from failure to thrive, steatorrhoea, rectal prolapse, and family history to diagnosis through newborn screening. Newborn screening dramatically reduced the time of diagnosis of CF to approximately six weeks or less in the majority of cases. Since the introduction of newborn screening, the uptake of prenatal diagnosis in CF families has increased two and a quarter fold.
1989年，维多利亚州开始通过检测免疫反应性胰蛋白酶原水平对囊性纤维化（CF）进行新生儿筛查。1990年，通过增加对常见CF基因突变ΔF508的检测对该方法进行了改进。随着DNA检测的加入，首个新生儿筛查方案的问题得到了解决，因为无需联系大多数家庭，汗液检测的数量减少，家长的焦虑也减轻了。诊断方式从因发育不良、脂肪泻、直肠脱垂和家族病史进行诊断转变为通过新生儿筛查进行诊断。在大多数情况下，新生儿筛查将CF的诊断时间大幅缩短至约六周或更短。自新生儿筛查引入以来，CF家庭中产前诊断的接受率提高了两倍多。
