Sosova Iveta, Archibald Alyssa, Rosolowsky Erik W, Rathwell Sarah, Christian Susan, Rosolowsky Elizabeth T
Department of Laboratory Medicine and Pathology, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB T6G 2B7, Canada.
Genetics and Genomics, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada.
Int J Neonatal Screen. 2024 May 2;10(2):35. doi: 10.3390/ijns10020035.
The effectiveness of newborn screening (NBS) for congenital hypothyroidism (CH) relies on timely screening, confirmation of diagnosis, and initiation and ongoing monitoring of treatment. The objective of this study was to ascertain the extent to which infants with CH have received timely and appropriate management within the first 3 years of life, following diagnosis through NBS in Alberta, Canada. Deidentified laboratory data were extracted between 1 April 2014 and 31 March 2019 from Alberta Health administrative databases for infants born in this time frame. Time to lab collection was anchored from date of birth. Timeliness was assessed as the frequency of monitoring of Thyroid Stimulating Hormone (TSH) and appropriateness as the frequency of children maintaining biochemical euthyroidism. Among 160 term infants, 95% had confirmation of diagnosis by 16 days of age. The cohort had a median of 2 (range 0-5) TSH measurements performed in the time interval from 0 to 1 month, 4 (0-12) from 1 to 6 months, 2 (0-10) from 6 to 12 months, and 7 (0-21) from 12 to 36 months. Approximately half were still biochemically hypothyroid (TSH > 7 mU/L) at 1 month of age. After becoming euthyroid, at least some period of hypo- (60%) or hyperthyroidism (TSH < 0.2 mU/L) (39%) was experienced. More work needs to be performed to discern factors contributing to prolonged periods of hypothyroidism or infrequent lab monitoring.
先天性甲状腺功能减退症（CH）新生儿筛查（NBS）的有效性依赖于及时筛查、确诊以及治疗的启动和持续监测。本研究的目的是确定在加拿大艾伯塔省通过NBS诊断出的CH患儿在出生后的前3年内接受及时且适当管理的程度。从艾伯塔省卫生管理数据库中提取了2014年4月1日至2019年3月31日期间在此时间段内出生婴儿的匿名实验室数据。实验室检查时间从出生日期开始计算。及时性通过促甲状腺激素（TSH）监测频率进行评估，适当性通过维持生化甲状腺功能正常的儿童频率进行评估。在160名足月儿中，95%在16日龄时确诊。该队列在0至1个月期间TSH测量次数的中位数为2次（范围0 - 5次），1至6个月期间为4次（0 - 12次），6至12个月期间为2次（0 - 10次），12至36个月期间为7次（0 - 21次）。大约一半的婴儿在1月龄时仍存在生化性甲状腺功能减退（TSH > 7 mU/L）。在甲状腺功能恢复正常后，至少经历过一段时间甲状腺功能减退（60%）或甲状腺功能亢进（TSH < 0.2 mU/L）（39%）。需要开展更多工作来识别导致甲状腺功能减退持续时间延长或实验室监测不频繁的因素。
