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To evaluate the United Arab Emirate National Newborn Screening Programme we compared coverage, timeliness of programme indicators [age at sampling, recall and treatment initiation, timing of specimen delivery and laboratory results] and specimen quality with international st and ards. Recall rate, sensitivity, specificity, positive predictive values and relative incidence rates for phenylketonuria [PKU] and congenital hypothyroidism [CH] were calculated. Investigations for hypothyroidism included thyroid function studies [T3, T4, fT4 and TSH], technetium-99m thyroid scan when possible and thyroglobulin and thyroid antibodies when indicated. PKU investigations included plasma amino acids and measurement of biopterin defects. In the 6 years before December 2000, 138, 718 neonates were screened. Relative incidences for CH and for classic PKU were 1: 1570 and 1: 20, 050 respectively

The national neonatal screening programme in the United Arab Emirates currently includes 16 disorders: congenital hypothyroidism, sickle-cell diseases, congenital adrenal hyperplasia, biotinidase deficiency and 12 amino acid, organic acid and fatty acid disorders. This paper reports data since the programme started in January 1995 up to December 2011 on the incidence of screened disorders and the molecular basis of positive screened cases. Screening used a combination of tandem mass spectrometry, molecular technologies and biochemical analysis. A total of 750 365 infants were screened and 717 babies saved from associated morbidity and/or mortality. The incidence of screened disorders were 1:1 873 for congenital hypothyroidism, 1:14 544 for phenylketonuria, 1:3 526 for amino acid, organic acid and fatty acid disorders, 1:9 030 for classical congenital adrenal hyperplasia, 1:8 300 for biotinidase deficiency, 1:2 384 for sickle-cell disease and 1:121 for sickle-cell traits. Coverage of neonatal screening in the population reached 95% in 2010.

The United Arab Emirates National Screening Programme for Congenital Hypothyroidism was established in January 1998. The programme measures neonatal thyroid-stimulating hormone [TSH] levels of blood samples collected on filter paper on day 5 by heel prick. The prevalence of raised TSH levels [>5 microU/mL whole blood] during 1998 and 1999 was used to evaluate the degree of iodine-deficiency disorders [IDD] in the population in different regions. The ratio of TSH profile in the present study and goitre rate in schools in a 1994 study were discrepant, although there was good correlation between the ratio of TSH profile and urinary iodine. The prevalence of raised TSH levels was < 3% in the Emirates overall, which is normal, and IDD varied from mild to normal problems in different regions