Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years
| العنوان: | Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years |
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| المؤلفون: | Enzo Ranieri, John Christodoulou, Veronica Wiley, Carolyn Ellaway, David Cowley, Joy Yaplito-Lee, Avihu Boneh, Francis Bowling, Bridget Wilcken, James Pitt, Kevin Carpenter, Barry Lewis, Edwin P. Kirk, Heidi Peters, Janice M. Fletcher, James McGill, Pamela Joy, Marion Haas |
| المصدر: | Pediatrics. 124:e241-e248 |
| بيانات النشر: | American Academy of Pediatrics (AAP), 2009. |
| سنة النشر: | 2009 |
| مصطلحات موضوعية: | Male, Pediatrics, medicine.medical_specialty, Cross-sectional study, Developmental Disabilities, Population, Acyl-CoA Dehydrogenase, Cohort Studies, Neonatal Screening, Predictive Value of Tests, Tandem Mass Spectrometry, Cause of Death, medicine, Humans, Longitudinal Studies, Child, education, education.field_of_study, Newborn screening, business.industry, Infant, Newborn, Australia, Infant, Odds ratio, MCADD, medicine.disease, Cross-Sectional Studies, Child, Preschool, Predictive value of tests, Pediatrics, Perinatology and Child Health, Cohort, Female, business, Metabolism, Inborn Errors, Cohort study |
| الوصف: | OBJECTIVE: Tandem mass spectrometry is widely applied to routine newborn screening but there are no long-term studies of outcome. We studied the clinical outcome at six years of age in Australia. METHODS: In a cohort study, we analyzed the outcome at 6 years for patients detected by screening or by clinical diagnosis among >2 million infants born from 1994 to 1998 (1 017 800, all unscreened) and 1998 to 2002 (461 500 screened, 533 400 unscreened) recording intellectual and physical condition, school placement, other medical problems, growth, treatment, diet, and hospital admissions. Results were analyzed separately for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and other disorders, and grouped patients as those who presented clinically or died in the first 5 days of life; patients presented later or diagnosed by screening, and those with substantially benign disorders. RESULTS: Inborn errors, excluding phenylketonuria, were diagnosed in 116 of 1 551 200 unscreened infants (7.5/100 000 births) and 70 of 461 500 screened infants (15.2/100 000 births). Excluding MCADD, 21 unscreened patients with metabolic disorders diagnosed after 5 days of life died or had a significant intellectual or physical handicap (1.35/100 000 population) compared with 2 of the screened cohort (0.43/100 000; odds ratio: 3.1 [95% CI: 0.73–13.32]). Considering the likely morbidity or mortality among the expected number of never-diagnosed unscreened patients, there would be a significant difference. Growth distribution was normal in all cohorts. CONCLUSION: Screening by tandem mass spectrometry provides a better outcome for patients at 6 years of age, with fewer deaths and fewer clinically significant disabilities. |
| وصف الملف: | application/pdf |
| تدمد: | 1098-4275 0031-4005 |
| DOI: | 10.1542/peds.2008-0586 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e0fe99b6d86208fbca94df412957417 https://doi.org/10.1542/peds.2008-0586 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....4e0fe99b6d86208fbca94df412957417 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10984275 00314005 |
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| DOI: | 10.1542/peds.2008-0586 |