Clinical Effectiveness and Cost-Effectiveness of the Use of the Thyroxine/Thyroxine-Binding Globulin Ratio to Detect Congenital Hypothyroidism of Thyroidal and Central Origin in a Neonatal Screening Program

• Published in: Pediatrics (Evanston) 2005-07, Vol.116 (1), p.168-173
• Main Authors: Lanting, Caren I, van Tijn, David A, Loeber, J. Gerard, Vulsma, Thomas, de Vijlder, Jan J. M, Verkerk, Paul H
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Birth defects; Clinical outcomes; Congenital hypothyroidism; Congenital Hypothyroidism - diagnosis; Congenital Hypothyroidism - economics; Congenital Hypothyroidism - etiology; Cost-Benefit Analysis; Costs and Cost Analysis; Diagnosis; Effectiveness studies; Endocrinopathies; False Positive Reactions; General aspects; Humans; Infant, Newborn; Infants (Newborn); Medical disorders; Medical examination; Medical sciences; Medical screening; Neonatal screening; Neonatal Screening - economics; Netherlands; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Pediatrics; Predictive Value of Tests; Sensitivity and Specificity; Thyroid gland; Thyroid. Thyroid axis (diseases); Thyrotropin - blood; Thyroxine - blood; Thyroxine-Binding Proteins - analysis
• ISSN: 0031-4005; 1098-4275
• DOI: 10.1542/peds.2004-2162

Since the introduction of screening for congenital hypothyroidism (CH) in 1974, the optimal laboratory strategy has been the subject of debate. To assess the clinical effectiveness and cost-effectiveness of various types of thyroxine (T(4))-based strategies to screen for CH. In the Netherlands, since January 1, 1995, a primary T(4) determination with supplemental thyroid-stimulating hormone (TSH) and T(4)-binding globulin (TBG) measurements has been used. Results were calculated from cumulative findings for 1181079 children screened between January 1, 1995, and December 31, 2000. Rates of detection of patients with CH of thyroidal origin (CH-T) or CH of central origin (CH-C), false-positive rates, laboratory costs, and costs of initial diagnostic evaluations. All known infants (n = 393) with CH-T and 92% (n = 66) of infants with CH-C were detected on the basis of low T(4) levels, TSH elevation, and/or low T(4)/TBG ratios. If the decision to refer had been based solely on TSH elevation, then 94% of patients with CH-T and none of the patients with CH-C would have been detected. If low T(4) levels (