Abstract
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 standards. 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.
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