Brown Ashleigh, Hofman Paul, Webster Dianne, Heather Natasha
Starship Child Health, Te Whatu Ora Te Toka Tumai Auckland, Auckland 1023, New Zealand.
Liggins Institute, University of Auckland, Auckland 1023, New Zealand.
Int J Neonatal Screen. 2025 May 13;11(2):37. doi: 10.3390/ijns11020037.
Congenital hypothyroidism (CH) is a critical condition in infancy where early detection is vital for optimal development. This study aimed to evaluate the sensitivity of Aotearoa New Zealand's Newborn Metabolic Screening "Low Birth Weight" protocol for detecting CH in preterm infants. A 10-year audit was conducted on 2935 preterm infants (<2000 g or ≤34 weeks gestation) screened within NICUs or SCBUs in the Auckland region. The study assessed both screen-detected and clinically detected cases of CH. Data were collected from screening and clinical records to evaluate the sensitivity and reliability of the current protocol. The audit identified 19 cases of primary CH, with a 1:154 incidence. Thirteen cases met the criteria for inclusion in the audit. Just over half of the eligible cases (7/13) were screen-detected, while the remaining were detected clinically, suggesting limitations in screening sensitivity. The analysis revealed that the protocol missed permanent as well as transient cases, and that biochemical severity was not predictive of permanence. A revised screening protocol was developed and commenced in July 2024.
先天性甲状腺功能减退症（CH）是婴儿期的一种关键病症，早期检测对于最佳发育至关重要。本研究旨在评估新西兰奥塔哥新生儿代谢筛查“低出生体重”方案在检测早产儿CH方面的敏感性。对奥克兰地区新生儿重症监护病房（NICUs）或特殊护理婴儿病房（SCBUs）筛查的2935名早产儿（<2000克或妊娠≤34周）进行了为期10年的审核。该研究评估了筛查发现和临床诊断的CH病例。从筛查和临床记录中收集数据，以评估当前方案的敏感性和可靠性。审核确定了19例原发性CH病例，发病率为1:154。其中13例符合审核纳入标准。略超过一半的符合条件病例（7/13）是通过筛查发现的，其余病例是临床诊断的，这表明筛查敏感性存在局限性。分析显示，该方案遗漏了永久性和暂时性病例，且生化严重程度无法预测是否为永久性病例。2024年7月制定并开始实施修订后的筛查方案。
