A neonatal screening in Lebanon: Results of five years' experience.

BACKGROUND: Neonatal screening programs for common disorders like phenylketonuria, congenital hypothyroidism, and glucose-6-phosphate dehydrogenase (G6PD) deficiency are not fully established at the national level in Lebanon. Screening for the above disorders was carried out for newborns delivered at the American University of Beirut Medical Center over a period of five years. SUBJECTS AND METHODS: Blood specimens collected 2-3 days after birth were applied to neonatal screening blood collection cards. A total of 9117 newborns were screened using phenylalanine, thyroid-stimulating hormone, and G6PD activity measurements on blood spots. RESULTS: One case of phenylketonuria and another of hyperphenylalaninemia were detected. We also detected 5 cases of permanent type of congenital hypothyroidism, giving an incidence of 5:9117 (1:1823). The age range at initiation of hormonal replacement therapy was 9-46 days. The overall incidence of G6PD was 106:9117 (1:86 or 1.16%), of which 84 had complete deficiency (1:109 or 0.92%), and 22 with intermediate activity. CONCLUSION: The incidence of these disorders found in this Lebanese sub-population warrants consideration of a comprehensive nationwide neonatal screening program.