Background: There are a lot of reasons for missing the diagnosis in neonatal screening for congenital hypothyroidism (CH), but errors in processing samples and reporting results are the most frequent! In Central Serbia screening for CH was instituted in 1983 by determination of the TSH level in dried filter-paper blood spots. All samples are analyzed at one central laboratory. The average number of specimens that are annually screened is 50 000. The screening process was divided into: specimen collection, laboratory procedures, follow-up phase. A missed case was defined as one not identified through the standard protocol of a neonatal screening.
Objective and hypotheses: The aim of the study is to determine the extent of the problem of missed cases.
Method: To gather data on missed cases of congenital hypothyroidism, in 2013. we did the retrospective study that included: investigation of case notes of all patients with congenital hypothyroidism who were treated and followed up in our hospital, questionnaires that were sent to the pediatricians in the primary health care and to pediatric endocrinologists in Central Serbia.
Results: During 30 years of screening program in Central Serbia over 1 500 000 newborns are screened. The diagnosis of CH was confirmed in 415 newborns and missed in 12 cases. According to our knowledge, there was one missed case of congenital hypothyroidism for every 35 detected. For eight children specimens were not received in the laboratory, for one patient there was an exchange of samples done in maternity word, and for three patients false negative result has been observed.
Conclusion: For the great majority of infants, neonatal screening program for CH has been successful. Because standard screening procedures may not detect every case of CH, physicians should be clinically vigilant with regard to signs and symptoms of CH.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology