Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• The United Arab Emirates established a national neonatal screening program in January 1995.
• The program screens for 16 inherited disorders, including congenital hypothyroidism, sickle cell diseases, congenital adrenal hyperplasia, biotinidase deficiency, and various amino acid, organic acid, and fatty acid disorders.

Purpose of the Study:

• To report the incidence of screened disorders in the UAE from January 1995 to December 2011.
• To analyze the molecular basis of positive screened cases.
• To evaluate the effectiveness of the neonatal screening program.

Main Methods:

• Screening utilized a combination of tandem mass spectrometry, molecular technologies, and biochemical analysis.
• Data collected from January 1995 to December 2011.
• Analysis of incidence rates and molecular findings for screened disorders.

Main Results:

• A total of 750,365 infants were screened.
• 717 babies were saved from associated morbidity and/or mortality.
• Incidence rates: Congenital hypothyroidism (1:1,873), Phenylketonuria (1:14,544), Amino/organic/fatty acid disorders (1:3,526), Classical congenital adrenal hyperplasia (1:9,030), Biotinidase deficiency (1:8,300), Sickle cell disease (1:2,384), Sickle cell trait (1:121).
• Neonatal screening coverage reached 95% in 2010.

Conclusions:

• The UAE's national neonatal screening program has successfully identified numerous infants with serious genetic and metabolic disorders.
• The program has demonstrated significant success in preventing morbidity and mortality.
• High screening coverage indicates the program's integration into the national healthcare system.