ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- A 25-Year Retrospective on Bavaria's Newborn Screening Programme: Achievements, Challenges and Long-Term Follow-Up.International journal of neonatal screening · 2025Article
- Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran.Molecular genetics and metabolism reports · 2024Article
- Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon.Orphanet journal of rare diseases · 2024Article
- A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism.International journal of neonatal screening · 2023Article
- Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Review
- The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health.Frontiers in pediatrics · 2021Review
- The role of exome sequencing in newborn screening for inborn errors of metabolism.Nature medicine · 2020Article
- The First Year Experience of Newborn Screening for Pompe Disease in California.International journal of neonatal screening · 2020Article
- Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.JIMD reports · 2020Article
- Ensuring the Life-Span Benefits of Newborn Screening.Pediatrics · 2019Review
- Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.Pediatrics · 2019Article
- Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.Immunological reviews · 2019Review
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo investigate the 5-year follow-up status for newborns diagnosed with metabolic disorders designated as "primary disorders" on the federal Recommended Uniform Screening Panel (RUSP).
methodsFollow-up status and demographic characteristics are described for 426 newborns diagnosed with one of 20 primary metabolic disorders on the RUSP between 2005 and 2009. Newborn screening program data were linked to birth certificate data. Follow-up status is described for each year through age 5 and by disorder type. Maternal characteristics of those who stayed in active care were compared with those who did not.
resultsOf 426 diagnosed newborns, by the end of 5 years of follow-up 55.2% stayed in active care, 20.4% became lost to follow-up, 8.7% moved out of state, 6.3% were determined to require no further follow-up, 4.7% refused follow-up, and 4.7% died. Among the initial group of disorders with more than 10 diagnosed cases, phenylketonuria (90%) had the highest percentage of patients still in active care after 5 years. Patients in active care had similar characteristics to patients not in active care when maternal age, race/ethnicity, completed education years, and expected source of payment for delivery were compared.
conclusionStaying in active care may associate with disorder type but not maternal characteristics.
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