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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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Saudi Medical Journal
2020
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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. |
format | Online Article Text |
id | pubmed-7502916 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Saudi Medical Journal |
record_format | MEDLINE/PubMed |
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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