Background The Newborn Screening Programme (NBS) screens for a group of congenital and genetic conditions including the inborn errors of metabolism. The population of the United Arab Emirates’ presents uncharted ground for exploration of these disorders. High rates of consanguinity contribute to the higher prevalence of these rare diseases. Early diagnosis is key to lead to better prognosis.
Objectives To investigate the frequency of various neonatal disorders detected by a comprehensive newborn screening programme conducted in a tertiary care hospital over 5 years.
Methods A total of 14733 neonates born in our hospital between October 2012 and October 2017 were included in the study. Neonates underwent a heel prick test at 48 hours of birth which was sent for screening of various disorders. The results of these tests were collected as well as demographic variables including, gender, birth weight, gestational age and birth year. Statistical analysis was carried out through Statistical Package for the Social Sciences SPSS v.24. Qualitative variables were tabulated as frequencies and percentages and the continuous variables as means ± Standard deviation.
Results Of the 14,733 neonates 7049 (47.85%) were females. Average gestational weeks and weight were 37.9 (±2) weeks and 3127 (±561) grams respectively. 14 (0.1%) tested positive for inborn errors of metabolism. Of whom 2 (0.01%) had fatty acid disorders, 11 (0.07%) had amino acid disorders, and 1 had cystic fibrosis. Of the amino acid disorders, 2 neonates had Phenylketonuria. Three (0.02%) newborns tested positive for congenital adrenal hyperplasia and 8 (0.05%) for congenital hypothyroidism. 161 (1.1%) newborns tested positive for glucose-6-phosphate dehydrogenase deficiency and another 172 (1.2%) were carriers. Breakdown of genetic analysis for glucose-6-phosphate dehydrogenase deficiency revealed the most common mutation being C563T Mediterranean mutation occurring in 115 (71%) of neonates. Furthermore, 296 (2%) newborns were found to have a variety of hemoglobinopathy spectrum with only another 13 (0.09%) newborns being positive for a hemoglobinopathy disorder.
Conclusions Glucose-6-phosphate dehydrogenase deficiency G6PD was the most commonly detected condition. However, this rate is lower than these reported in previous studies. Hemoglobinopathy carriers were the highest detected abnormality. A higher frequency of inborn errors of metabolism, hemoglobinopathies, congenital hypothyroidism, and congenital adrenal hyperplasia than worldwide figures was noted. Several factors such as higher regional consanguinity rates and a multi-ethnic population were identified as potential explanations.
The study provides valuable information on a number rare disorders in the UAE. Early diagnosis and treatment leading to better prognosis is an important gain. Moreover, these results equip healthcare leaders with new information on the burden of these conditions to ensure better planning and provision of health services.
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