Background: Newborn screening is a public health prevention system that intends to detect, early in life, a group of serious diseases that require early intervention. Institutionalizing and sustaining this system presents a remarkable challenge in developing public health systems. Duhok project for expanded newborn screening started in June 2018 with a panel of seven diseases including phenylketonuria (PKU), Galactosemia (GAL), congenital hypothyroidism (CHT), Cystic fibrosifcardiacs (CF), Congenital adrenal hyperplasia (CAH), G6PD deficiency and biotinidase deficiency. In the next few years, the panel expanded to include, finally, 72 tests, to detect various disorders of amino acids, fatty acid oxidation, organic acid, lysosomal storage disease, immunodeficiency, spinal muscular dystrophy, and others.

Objectives: To evaluate the Duhok project of expanded newborn screening.

Methods: In a retrospective cross-sectional study conducted between June 2018 and 31 November 2021, a total of 3872 newborns were screened from 8 governorates of Iraq and the Kurdistan region. Heel prick dry blood spot samples were obtained from all newborns for biochemical and immunoassay testing.

Results: A total of 527 cases were detected, frequently detected disorders were Glucose 6 phosphate dehydrogenase deficiency, cystic fibrosis, congenital adrenal hyperplasia and phenyl ketone urea. Most of the positive cases (66%) were older than 7 days at screening.

Conclusion: The article highlights the overview of the expanded newborn screening project in Duhok/Iraq. NBS has not yet become prevalent in Iraq, thus the screening for metabolic disorders is not normally requested until a patient is already experiencing symptoms.

Keywords: an overview of expanded newborn screening; Newborn Screening Program; Duhok