Heather Natasha, de Hora Mark, Brothers Shannon, Grainger Pippa, Knoll Detlef, Webster Dianne
Newborn Metabolic Screening Programme, LabPlus, Auckland District Health Board, Auckland 1148, New Zealand.
Liggins Institute, University of Auckland, Auckland 1142, New Zealand.
Int J Neonatal Screen. 2022 May 10;8(2):33. doi: 10.3390/ijns8020033.
Screening for severe combined immunodeficiency (SCID) was added to the New Zealand national newborn screening programme in December 2017. Documentation pertaining to the application to add SCID to the panel and screening results over the first three years were reviewed. Screening evaluation metrics were shown to differ according to site of collection (babies in a neonatal intensive care unit vs. the community), definition of a positive test (out-of-range result vs. result leading to a further action on baby), and screening target/case definition (primary SCID vs. non-SCID T-cell lymphopenia). Our experience demonstrates both the value of close clinical involvement during the implementation phase of SCID screening and that the use of standard definitions will facilitate international comparison.
2017年12月，严重联合免疫缺陷病（SCID）筛查被纳入新西兰国家新生儿筛查项目。我们回顾了有关将SCID纳入筛查项目的申请文件以及头三年的筛查结果。结果显示，筛查评估指标因采集地点（新生儿重症监护病房的婴儿与社区婴儿）、阳性检测定义（超出范围的结果与导致对婴儿采取进一步行动的结果）以及筛查目标/病例定义（原发性SCID与非SCID T细胞淋巴细胞减少症）的不同而有所差异。我们的经验表明，在SCID筛查实施阶段密切的临床参与具有重要价值，并且使用标准定义将有助于国际间的比较。
