Division of Neonatal-Perinatal Medicine, Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Division of Endocrinology, Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.
J Perinatol. 2019 Aug;39(8):1065-1071. doi: 10.1038/s41372-019-0400-3. Epub 2019 Jun 18.
To evaluate the role of serial newborn screening of congenital hypothyroidism using thyroxine (T4) in the neonatal intensive care unit (NICU).
Newborn screen results were reviewed from a single academic NICU during 2007-2016 (n = 6100). Thyroid function levels were reviewed in patients treated for hypothyroidism during that period. Duration of treatment was followed after discharge.
Overall incidence of treated hypothyroidism was 1:103 with increasing incidence inversely related to birth weight. Among treated infants (n = 59), initial newborn screen demonstrated sensitivity and specificity of 74.1% and 84.9%, respectively; second screen demonstrated rates of 85.7% and 76.1%, respectively. Based on follow-up data, prevalence of permanent congenital hypothyroidism in our NICU population was 1:870 (n = 7); two patients would have been missed with a single screen.
Abnormal T4 on newborn screening is common for preterm neonates. Higher rates of permanent congenital hypothyroidism highlight the need for screening beyond the newborn screen.
评估在新生儿重症监护病房（NICU）中使用甲状腺素（T4）对先天性甲状腺功能减退症进行连续新生儿筛查的作用。
回顾了 2007 年至 2016 年期间在一家学术性 NICU 进行的新生儿筛查结果（n=6100）。在此期间，对接受甲状腺功能减退症治疗的患者的甲状腺功能水平进行了回顾。出院后对治疗时间进行了随访。
治疗性甲状腺功能减退症的总发病率为 1:103，发病率随出生体重的降低而增加。在接受治疗的婴儿中（n=59），初次新生儿筛查的敏感性和特异性分别为 74.1%和 84.9%；第二次筛查的敏感性和特异性分别为 85.7%和 76.1%。根据随访数据，本 NICU 人群中永久性先天性甲状腺功能减退症的患病率为 1:870（n=7）；如果只进行一次筛查，将有 2 例患者被漏诊。
早产儿的新生儿筛查 T4 异常很常见。永久性先天性甲状腺功能减退症的更高发病率突出表明需要在新生儿筛查之外进行筛查。
