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新生儿筛查:加拿大艾伯塔省的现状

Newborn Screening: Current Status in Alberta, Canada.

作者信息

De Souza Andy, Wolan Vanessa, Battochio Angie, Christian Susan, Hume Stacey, Johner Grace, Lilley Margaret, Ridsdale Ross, Schnabl Kareena, Tran Chi, Yuen-Jung Jolene, Sosova Iveta

机构信息

Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Public Laboratories, Edmonton, AB T6G 2B7, Canada;

Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB T6G 2B7, Canada.

出版信息

Int J Neonatal Screen. 2019 Oct 1;5(4):37. doi: 10.3390/ijns5040037. eCollection 2019 Dec.

Abstract

Newborn screening (NBS) in Alberta is delivered by a number of government and health service entities who work together to provide newborn screening to infants born in Alberta, the Northwest Territories, and the Kitikmeot region of the Nunavut territory. The Alberta panel screens for 21 disorders (16 metabolic, two endocrine, cystic fibrosis, severe combined immunodeficiency, and sickle cell disease). NBS is a standard of care, but is not mandatory. NBS performance is monitored by the Alberta Newborn Metabolic Screening (NMS) Program and NMS Laboratory, who strive for continuous quality improvement. Performance analysis found that over 99% of registered infants in Alberta received a newborn screen and over 98% of these infants received a screen result within 10 days of age.

摘要

艾伯塔省的新生儿筛查(NBS)由多个政府和卫生服务机构共同开展,这些机构携手为在艾伯塔省、西北地区以及努纳武特地区基蒂克米奥特地区出生的婴儿提供新生儿筛查服务。艾伯塔省的筛查项目涵盖21种疾病(16种代谢性疾病、2种内分泌疾病、囊性纤维化、重症联合免疫缺陷病和镰状细胞病)。新生儿筛查是一种医疗标准,但并非强制要求。艾伯塔省新生儿代谢筛查(NMS)项目和NMS实验室对新生儿筛查工作进行监测,致力于持续改进服务质量。绩效分析发现,艾伯塔省超过99%的登记婴儿接受了新生儿筛查,其中超过98%的婴儿在出生后10天内收到了筛查结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f58/7510222/981b81e4c97c/IJNS-05-00037-g001.jpg

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