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Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia: A 6-year study

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, Ri...

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Autores principales: Mohamed, Sarar, Elsheikh, Wafa, Al-Aqeel, Aida I., Alhashem, Amal M., Alodaib, Ali, Alahaideb, Lujane, Almashary, Maher, Alharbi, Fahad, AlMalawi, Horia, Ammari, Amer, Almohaimeed, Sulaiman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Saudi Medical Journal 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7502916/
https://www.ncbi.nlm.nih.gov/pubmed/32601637
http://dx.doi.org/10.15537/smj.2020.7.25147
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author Mohamed, Sarar
Elsheikh, Wafa
Al-Aqeel, Aida I.
Alhashem, Amal M.
Alodaib, Ali
Alahaideb, Lujane
Almashary, Maher
Alharbi, Fahad
AlMalawi, Horia
Ammari, Amer
Almohaimeed, Sulaiman
author_facet Mohamed, Sarar
Elsheikh, Wafa
Al-Aqeel, Aida I.
Alhashem, Amal M.
Alodaib, Ali
Alahaideb, Lujane
Almashary, Maher
Alharbi, Fahad
AlMalawi, Horia
Ammari, Amer
Almohaimeed, Sulaiman
author_sort Mohamed, Sarar
collection PubMed
description 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.
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spelling pubmed-75029162021-03-11 Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia: A 6-year study Mohamed, Sarar Elsheikh, Wafa Al-Aqeel, Aida I. Alhashem, Amal M. Alodaib, Ali Alahaideb, Lujane Almashary, Maher Alharbi, Fahad AlMalawi, Horia Ammari, Amer Almohaimeed, Sulaiman Saudi Med J Original Article 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. Saudi Medical Journal 2020-07 /pmc/articles/PMC7502916/ /pubmed/32601637 http://dx.doi.org/10.15537/smj.2020.7.25147 Text en Copyright: © Saudi Medical Journal http://creativecommons.org/licenses/by-nc This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial License (CC BY-NC), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Mohamed, Sarar
Elsheikh, Wafa
Al-Aqeel, Aida I.
Alhashem, Amal M.
Alodaib, Ali
Alahaideb, Lujane
Almashary, Maher
Alharbi, Fahad
AlMalawi, Horia
Ammari, Amer
Almohaimeed, Sulaiman
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia: A 6-year study
title Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia: A 6-year study
title_full Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia: A 6-year study
title_fullStr Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia: A 6-year study
title_full_unstemmed Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia: A 6-year study
title_short Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia: A 6-year study
title_sort incidence of newborn screening disorders among 56632 infants in central saudi arabia: a 6-year study
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7502916/
https://www.ncbi.nlm.nih.gov/pubmed/32601637
http://dx.doi.org/10.15537/smj.2020.7.25147
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