Cut-off values in newborn screening for inborn errors of metabolism in Saudi Arabia
BACKGROUND: Newborn screening identifies individuals affected by a specific disorder within an apparently healthy population prior to the appearance of symptoms so that appropriate interventions can be initiated in time to minimize the harmful effects. Data on population based cut-off values, diseas...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
King Faisal Specialist Hospital and Research Centre
2022-03-01
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| Series: | Annals of Saudi Medicine |
| Online Access: | http://www.annsaudimed.net/doi/10.5144/0256-4947.2022.107 |
| _version_ | 1819018190188969984 |
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| author | Adbul Rafiq Khan Ali Alothaim Ahmed Alfares Adil Jowed Souad Marwan Al Enazi Saad Mohammed Al Ghamdi Ahmed Al Seneid Areej Algahtani Saleh Al Zahrani Majid AlFadhel Omar Aldibasi Lamya Abdulaziz AlOmair Rafah Bajudah Abeer Nawaf Alanazie |
| author_facet | Adbul Rafiq Khan Ali Alothaim Ahmed Alfares Adil Jowed Souad Marwan Al Enazi Saad Mohammed Al Ghamdi Ahmed Al Seneid Areej Algahtani Saleh Al Zahrani Majid AlFadhel Omar Aldibasi Lamya Abdulaziz AlOmair Rafah Bajudah Abeer Nawaf Alanazie |
| author_sort | Adbul Rafiq Khan |
| collection | DOAJ |
| description | BACKGROUND: Newborn screening identifies individuals affected by a specific disorder within an apparently healthy population prior to the appearance of symptoms so that appropriate interventions can be initiated in time to minimize the harmful effects. Data on population based cut-off values, disease ranges for true positive cases, false positive rates, true positive rates, cut-off verification and comparisons with international cut-off ranges have not been done for Saudi Arabia. OBJECTIVE: Establish population-based cut-off values and analyte ratios for newborn screening assays and clinically validate the values. DESIGN: Population-based screening. SETTING: Tertiary care hospitals and laboratories. METHODS: After method verification, initial cut-off values were established by analyzing 400-500 dry blood spot (DBS) samples which were further evaluated after one year. About 74 000 patient results were reviewed to establish cut-off ranges from DBS samples received from five different hospitals during 2013-2020. Analysis was performed by tandem mass spectrometry (TMS) and a genetic screening processor. Confirmation of initial positive newborn screening results for different analytes were carried out using gas chromatography-mass spectrometry, high performance liquid chromatography and TMS. MAIN OUTCOME MEASURES: Cut-off values, ratios, positive predictive values, false positive rate, true positive rate and disease range. SAMPLE SIZE: 74 000 samples. RESULTS: Population based cut-off values were calculated at different percentiles. These values were compared with 156 true positive samples and 80 proficiency samples. The false positive rate was less than 0.04 for all the analytes, except for valine, leucine, isovalerylcarnitine (C5), biotinidase (BTD), 17-hydroxyprogesterone and thyroid stimulating hormone. The highest false positive rate was 0.14 for BTD which was due to pre-analytical errors. The analytical positive predictive values were greater than 80% throughout the eight years. CONCLUSION: We have established clinical disease ranges for most of the analytes tested in our lab and several ratios which gives excellent screening specificity and sensitivity for early detection. The samples were representative of the local populations. LIMITATIONS: Need for wider, population-based studies. CONFLICT OF INTEREST: None. |
| first_indexed | 2024-12-21T03:15:29Z |
| format | Article |
| id | doaj.art-9a906e71a23e488d86d3fd640f43e3e8 |
| institution | Directory Open Access Journal |
| issn | 0256-4947 0975-4466 |
| language | English |
| last_indexed | 2024-12-21T03:15:29Z |
| publishDate | 2022-03-01 |
| publisher | King Faisal Specialist Hospital and Research Centre |
| record_format | Article |
| series | Annals of Saudi Medicine |
| spelling | doaj.art-9a906e71a23e488d86d3fd640f43e3e82022-12-21T19:17:51ZengKing Faisal Specialist Hospital and Research CentreAnnals of Saudi Medicine0256-49470975-44662022-03-0142210711810.5144/0256-4947.2022.107Cut-off values in newborn screening for inborn errors of metabolism in Saudi ArabiaAdbul Rafiq Khan0Ali Alothaim1Ahmed Alfares2Adil Jowed3Souad Marwan Al Enazi4Saad Mohammed Al Ghamdi5Ahmed Al Seneid6Areej Algahtani7Saleh Al Zahrani8Majid AlFadhel9Omar Aldibasi10Lamya Abdulaziz AlOmair11Rafah Bajudah12Abeer Nawaf Alanazie13From the Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi ArabiaFrom the Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi ArabiaFrom the Department of Pediatrics, Qassim University, Buraidah, Al Qassim, Saudi ArabiaFrom the Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi ArabiaFrom the Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi ArabiaFrom the Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi ArabiaFrom the Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi ArabiaFrom the Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi ArabiaFrom the Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi ArabiaFrom the Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi ArabiaFrom the Department of Biostatistics and Bioinformatics, King Abdullah International Medical Research Center, Riyadh, Saudi ArabiaFrom the Department of Biostatistics and Bioinformatics, King Abdullah International Medical Research Center, Riyadh, Saudi ArabiaFrom the Department of Biochemical Metabolic Lab, Ministry of National Guard Health Affairs, Riyadh, Saudi ArabiaFrom the Department of Biochemical Metabolic Lab, Ministry of National Guard Health Affairs, Riyadh, Saudi ArabiaBACKGROUND: Newborn screening identifies individuals affected by a specific disorder within an apparently healthy population prior to the appearance of symptoms so that appropriate interventions can be initiated in time to minimize the harmful effects. Data on population based cut-off values, disease ranges for true positive cases, false positive rates, true positive rates, cut-off verification and comparisons with international cut-off ranges have not been done for Saudi Arabia. OBJECTIVE: Establish population-based cut-off values and analyte ratios for newborn screening assays and clinically validate the values. DESIGN: Population-based screening. SETTING: Tertiary care hospitals and laboratories. METHODS: After method verification, initial cut-off values were established by analyzing 400-500 dry blood spot (DBS) samples which were further evaluated after one year. About 74 000 patient results were reviewed to establish cut-off ranges from DBS samples received from five different hospitals during 2013-2020. Analysis was performed by tandem mass spectrometry (TMS) and a genetic screening processor. Confirmation of initial positive newborn screening results for different analytes were carried out using gas chromatography-mass spectrometry, high performance liquid chromatography and TMS. MAIN OUTCOME MEASURES: Cut-off values, ratios, positive predictive values, false positive rate, true positive rate and disease range. SAMPLE SIZE: 74 000 samples. RESULTS: Population based cut-off values were calculated at different percentiles. These values were compared with 156 true positive samples and 80 proficiency samples. The false positive rate was less than 0.04 for all the analytes, except for valine, leucine, isovalerylcarnitine (C5), biotinidase (BTD), 17-hydroxyprogesterone and thyroid stimulating hormone. The highest false positive rate was 0.14 for BTD which was due to pre-analytical errors. The analytical positive predictive values were greater than 80% throughout the eight years. CONCLUSION: We have established clinical disease ranges for most of the analytes tested in our lab and several ratios which gives excellent screening specificity and sensitivity for early detection. The samples were representative of the local populations. LIMITATIONS: Need for wider, population-based studies. CONFLICT OF INTEREST: None.http://www.annsaudimed.net/doi/10.5144/0256-4947.2022.107 |
| spellingShingle | Adbul Rafiq Khan Ali Alothaim Ahmed Alfares Adil Jowed Souad Marwan Al Enazi Saad Mohammed Al Ghamdi Ahmed Al Seneid Areej Algahtani Saleh Al Zahrani Majid AlFadhel Omar Aldibasi Lamya Abdulaziz AlOmair Rafah Bajudah Abeer Nawaf Alanazie Cut-off values in newborn screening for inborn errors of metabolism in Saudi Arabia Annals of Saudi Medicine |
| title | Cut-off values in newborn screening for inborn errors of metabolism in Saudi Arabia |
| title_full | Cut-off values in newborn screening for inborn errors of metabolism in Saudi Arabia |
| title_fullStr | Cut-off values in newborn screening for inborn errors of metabolism in Saudi Arabia |
| title_full_unstemmed | Cut-off values in newborn screening for inborn errors of metabolism in Saudi Arabia |
| title_short | Cut-off values in newborn screening for inborn errors of metabolism in Saudi Arabia |
| title_sort | cut off values in newborn screening for inborn errors of metabolism in saudi arabia |
| url | http://www.annsaudimed.net/doi/10.5144/0256-4947.2022.107 |
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