Background and Aim

Newborn screening (NBS)is an effective public healthpolicy to detect congenital disorders, such as endocrine, hematologic, and inborn errors of metabolism. In 2014, Indonesia marked its pivotal step by launching national NBS program for congenital hypothyroidism (CH). In no time, expansion of NBS program is expected.This study aims to evaluate the feasibility and recall rates of NBS for three conditions: CH, congenital adrenal hyperplasia (CAH), and glucose-6-dehydrogenase deficiency (G6PD).

Data was gathered from October 2015 to January 2016. Newborns aged 2-5 days from five big centres in Indonesia were included. The heel prickdried blood sample was taken and transported to the appointed standardized laboratories. We excluded blood samples taken from the vein, tainted by anticoagulant, or had been kept for longer than a week (for G6PD). Samples were then tested by using fluorescence method for each corresponding screening parameter. Positive screen test prompted recalling for confirmatory testing and further treatmentby pediatricians.

Out of 1226 samples received, 1167 were fit to be analyzed. The median (min-max) age was 2 (2-5) days. For CH, the recall rate was 1/1167 (0.09%). The patient was successfully recalled and was found to be a true positive case. From 1134 newborns screened for CAH, 8 were found positive (0.71%). After recalling, only three patients came for confirmatory testing, and two were found positive for CAH. There were 20 out of 1018 newborns (1.96%) found to be positive for G6PD and were then educated about the conditions.

This study demonstrated the feasibility of expanded newborn screening program in Indonesia. The low recall rate and false positive and negative results require improvement of networking and supporting resources. Future study with more areas and larger samples is needed.