Perinatal Epidemiology Unit, Perinatology Research Branch (NICHD/NIH), and Department of Obstetrics & Gynecology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Arch Dis Child Fetal Neonatal Ed. 2013 Jul;98(4):F310-5. doi: 10.1136/archdischild-2012-302192. Epub 2012 Nov 26.
To evaluate the effectiveness of four dried blood spot testing protocols used in newborn screening for congenital hypothyroidism (CH) among newborns transferred to the neonatal intensive care unit (NICU).
DESIGN, SETTING AND PATIENTS: Michigan newborns transferred to the NICU from 1998 to 2011 and screened for CH are included in this population-based retrospective cohort study.
Screening performance metrics are computed and logistic regression is used to test for differences in the likelihood of detection across four periods characterised by different testing protocols.
Primary thyrotropin (TSH) plus retest at 30 days of life or discharge achieved the greatest detection rate (2.6: 1000 births screened). The odds of detection was also significantly greater in this period compared with the tandem thyroxine (T4) and TSH testing period and separately compared with TSH testing alone, adjusted for birth weight, sex and race (OR 1.5; CI 1.0 to 2.2; p=0.046, and OR 2.2; CI 1.5 to 3.4, respectively). Approximately half of the cases detected during primary TSH plus serial testing periods were identified by retest.
Primary TSH testing programmes that do not incorporate serial screening may fail to identify approximately half of newborns with congenital thyroid hormone deficiency transferred to the NICU. Tandem T4 and TSH testing programmes also likely miss cases who otherwise would receive treatment if serial testing were conducted. Further research is necessary to determine the optimal newborn screening protocol for CH; strategies combining tandem T4 and TSH with serial testing conditional on birthweight may be useful.
评估在新生儿重症监护病房（NICU）转新生儿中使用四种干血斑检测方案对先天性甲状腺功能减退症（CH）新生儿筛查的效果。
设计、地点和患者：本研究为基于人群的回顾性队列研究，纳入了 1998 年至 2011 年期间因先天性甲状腺功能减退症（CH）在新生儿重症监护病房（NICU）转新生儿并进行 CH 筛查的密歇根州新生儿。
计算筛查性能指标，并使用逻辑回归来检测四个不同检测方案时期的检测可能性差异。
初次促甲状腺激素（TSH）加 30 天生命或出院时复查达到了最高检出率（2.6:1000 例筛查）。与串联甲状腺素（T4）和 TSH 检测期相比，该时期的检测可能性也显著增加，与单独 TSH 检测相比，也显著增加，调整了出生体重、性别和种族（OR1.5；95%CI1.0 至 2.2；p=0.046，和 OR2.2；95%CI1.5 至 3.4，分别）。在初次 TSH 加系列检测期间发现的大约一半病例是通过复查确定的。
不包含系列筛查的初次 TSH 检测方案可能无法识别约一半转至 NICU 的先天性甲状腺激素缺乏症新生儿。串联 T4 和 TSH 检测方案也可能遗漏本应接受治疗的病例，如果进行系列检测的话。有必要进一步研究以确定先天性甲状腺功能减退症（CH）的最佳新生儿筛查方案；联合串联 T4 和 TSH 与基于出生体重的系列检测的策略可能是有用的。
