Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: Potentials and pitfalls
article
Context: The Dutch T4-TSH-TBG-based neonatal screening program detects patients with congenital hypothyroidism (CH) of thyroidal (CH-T) as well as central (CH-C) origin. The numbers and characteristics of true-positive and false-positive referrals will differ from other, predominantly TSH-based, screening methods. Objective: The present study describes the characteristics of the referred neonates, both CH patients and false positives, and of the reported CH patients with a false-negative screening result born in the study period. Design, Setting, Patients, and Main Outcome Measure: For each referred child born between April 1, 2002, and May 31, 2004, screening results and first venous sample results were recorded and classified as transient or permanent CH-T or CH-C or as no CH. Results: In the study period, 430,764 children were screened. Of the 772 children with abnormal screening results, 224 (29%) had CH; another 13 CH patients did not have abnormal screening results, giving an overall CH incidence of 1:1800. Incidences of permanent CH, permanent CH-T, permanent CH-C, and transient CH were 1:2200, 1:2500, 1:21,000, and 1:12,000, respectively. The most frequent explanations for the 548 false-positive referrals (71% of the referred cohort) were severe illness and TBG deficiency (occurring in 198 and 200 children, respectively). Conclusions: The Dutch incidence figures for CH belong to the highest worldwide, suggesting that the T4-TSH-TBG screening program is an efficient method to detect CH of variable etiology and severity. Still, a small percentage of children with CH escaped detection via this screening approach. Severe illness and TBG deficiency appear to be responsible for the majority of false-positive referrals. Copyright © 2006 by The Endocrine Society. Chemicals / CAS: thyrotropin, 9002-71-5; thyroxine, 7488-70-2; Thyroglobulin, 9010-34-8; Thyrotropin, 9002-71-5; Thyroxine, 7488-70-2
Topics
Jeugd en Gezondheid
thyrotropin
thyroxine
thyroxine binding globulin
congenital hypothyroidism
controlled study
disease classification
disease severity
incidence
major clinical study
newborn
newborn screening
outcome assessment
patient referral
protein analysis
Congenital Hypothyroidism
False Negative Reactions
False Positive Reactions
Humans
Infant, Newborn
Neonatal Screening
Netherlands
Thyroglobulin
Thyrotropin
Thyroxine
TNO Identifier
239485
DOI
https://dx.doi.org/10.1210/jc.2006-0058
ISSN
0021972X
Source
Journal of Clinical Endocrinology and Metabolism, 91(9), pp. 3370-3376.
Pages
3370-3376