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United Arab Emirates National Newborn Screening Programme:an evaluation 1998-2000

2021; World Health Organization; Volume: 9; Issue: 3 Linguagem: Inglês

10.26719/2003.9.3.324

1687-1634

H Al-Hosani, M. Salah, Dimah Saade, Hesham Osman, Jinan M. Al-Zahid,

Genomics and Rare Diseases

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