Lilley Margaret, Christian Susan, Hume Stacey, Scott Patrick, Montgomery Mark, Semple Lisa, Zuberbuhler Peter, Tabak Joan, Bamforth Fiona, Somerville Martin J
Molecular Diagnostic Laboratory, Alberta Health Services, Edmonton;
Paediatr Child Health. 2010 Nov;15(9):590-4. doi: 10.1093/pch/15.9.590.
On April 1, 2007, Alberta became the first province in Canada to introduce cystic fibrosis (CF) to its newborn screening program. The Alberta protocol involves a two-tier algorithm involving an immunoreactive trypsinogen measurement followed by molecular analysis using a CF panel for 39 mutations. Positive screens are followed up with sweat chloride testing and an assessment by a CF specialist. Of the 99,408 newborns screened in Alberta during the first two years of the program, 221 had a positive CF newborn screen. The program subsequently identified and initiated treatment in 31 newborns with CF. A relatively high frequency of the R117H mutation and the M1101K mutation was noted. The M1101K mutation is common in the Hutterite population. The presence of the R117H mutation has created both counselling and management dilemmas. The ability to offer CF transmembrane regulator full sequencing may help resolve diagnostic dilemmas. Counselling and management challenges are created when mutations are mild or of unknown clinical significance.
2007年4月1日，艾伯塔省成为加拿大首个将囊性纤维化（CF）纳入新生儿筛查项目的省份。艾伯塔省的方案采用了两级算法，先进行免疫反应性胰蛋白酶原检测，然后使用包含39种突变的CF检测板进行分子分析。筛查呈阳性的病例会接受汗液氯化物检测，并由CF专家进行评估。在该项目开展的头两年里，艾伯塔省对99,408名新生儿进行了筛查，其中221名新生儿的CF筛查呈阳性。该项目随后确诊并为31名患有CF的新生儿启动了治疗。研究发现R117H突变和M1101K突变的出现频率相对较高。M1101K突变在哈特派人群中很常见。R117H突变的存在带来了咨询和管理方面的难题。提供CF跨膜调节因子全序列检测的能力可能有助于解决诊断难题。当突变轻微或临床意义不明时，就会产生咨询和管理方面的挑战。
