RT Journal Article
SR Electronic
T1 Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 703
OP 708
DO 10.15537/smj.2020.7.25147
VO 41
IS 7
A1 Mohamed, Sarar
A1 Elsheikh, Wafa
A1 Al-Aqeel, Aida I.
A1 Alhashem, Amal M.
A1 Alodaib, Ali
A1 Alahaideb, Lujane
A1 Almashary, Maher
A1 Alharbi, Fahad
A1 AlMalawi, Horia
A1 Ammari, Amer
A1 Almohaimeed, Sulaiman
YR 2020
UL http://smj.org.sa/content/41/7/703.abstract
AB 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.