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Neonatal Screening for Congenital Hypothyroidism Based on Thyroxine, Thyrotropin, and Thyroxine-Binding Globulin Measurement: Potentials and Pitfalls

Department of Pediatric Endocrinology (M.J.E.K., A.S.P.v.T., B.M.W., J.J.M.d.V., T.V.), Emma Children’s Hospital Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands; Department of Prevention and Healthcare (C.I.L.), Netherlands Organization of Applied Scientific Research, Quality of Life, 2301 CE Leiden, The Netherlands; and Department of Neonatology (A.F.J.v.H.), Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands

Address all correspondence and requests for reprints to: Marlies J. E. Kempers, M.D., Academic Medical Center, University of Amsterdam, G8-205, Emma Children’s Hospital AMC, Department of Pediatric Endocrinology, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands. E-mail: m.j.kempers{at}amc.uva.nl.

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.

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