Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study
| Autor: | Sulaiman A. AlMohaimeed, Amer N. Ammari, Maher Almashary, Lujane Alahaideb, Amal Alhashem, Fahad M. Alharbi, Horia AlMalawi, Aida I. Al-Aqeel, Wafa Elsheikh, Sarar Mohamed, Ali Al-Odaib |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Newborn screening
Pediatrics medicine.medical_specialty business.industry Citrullinemia Maple syrup urine disease Biotinidase deficiency Incidence (epidemiology) screening Galactosemia lcsh:R lcsh:Medicine General Medicine Glutaric aciduria type 1 030204 cardiovascular system & hematology medicine.disease Congenital hypothyroidism 03 medical and health sciences 0302 clinical medicine newborn medicine incidence saudi arabia 030212 general & internal medicine business |
| Zdroj: | Saudi Medical Journal, Vol 41, Iss 7, Pp 703-708 (2020) |
| ISSN: | 1658-3175 0379-5284 |
| Popis: | Objectives: To determine the incidence of newborn screening (NBS) disorders and to study the key performance indicators of the program. Methods: This retrospective single-center study enrolled all infants who underwent NBS from January 2012 to December 2017 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia. We screened 17 NBS disorders. Blood samples were collected 24 hours after birth. If the initial result was positive, a second sample was collected. True positive cases were immediately referred for medical management. Data were extracted from laboratory computerized and non-computerized records using case report forms. Results: During the study period, 56632 infants underwent NBS with a coverage rate of 100%. Thirty-eight cases were confirmed. The incidence of congenital hypothyroidism was 1:3775. The positive predictive value for the detection of congenital hypothyroidism was 11.8%. Propionic aciduria was the most common metabolic disorder, with an incidence of 1:14158. Very long-chain acyl CoA dehydrogenase deficiency and glutaric aciduria type 1 had an incidence of 1:18877 each. Phenylketonuria, biotinidase deficiency, maple syrup urine disease, and citrullinemia had an incidence of 1:28316 each. However, galactosemia and 3-methyl crotonyl carboxylase deficiency had the lowest incidence of 1:56632. Conclusion: The NBS coverage rate at our facility was 100%. Congenital hypothyroidism was the most frequently detected disorder with an incidence that matches worldwide figures. The incidence of other inherited disorders was consistent with regional figures. |
| Databáze: | OpenAIRE |
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