Abstract:

Objective: In this study, it was aimed to evaluate the results of the newborn metabolic and endocrine disease screening program, in Sivas between 2011-2021. Methods: In this cross-sectional study, gender, birth weight, date of birth and sampling date of 84044 newborns whose heel blood was taken between 2011-2021 within the scope of Neonatal Screening Program in Sivas were reached via Neonatal Screening Program Web Application. The number and rates of newborns diagnosed with phenylketonuria, congenital hypothyroidism, biotinidase deficiency, cystic fibrosis and congenital adrenal hyperplasia by years were determined, and disease incidences were calculated. Results: The lowest and highest incidences of the screened diseases were 1:1011- 1:233 for congenital hypothyroidism, 1:8375- 1:657 for phenylketonuria, 1:6815- 1:1861 for biotinidase deficiency, 1:7902-1:3614 for cystic fibrosis, and 1:6815- 1:3222 for congenital adrenal hyperplasia respectively. The incidence of congenital hypothyroidism was higher than the incidence of other diseases screened for. The second disease with the highest incidence was phenylketonuria. There was no significant difference by gender for the five diseases screened. Birth weights of those diagnosed with congenital hypothyroidism (p=0.002) and congenital adrenal hyperplasia (p=0.039) were lower. Conclusion: It was found that the incidences of congenital hypothyroidism and phenylketonuria among the diseases screened were higher. Those diagnosed with congenital hypothyroidism and congenital adrenal hyperplasia had lower birth weights. It may be recommended to explain to families the importance of screening in these diseases, which are preventable or treatable diseases with early diagnosis and intervention, and to include other similar diseases in the screening program.

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