Sara Denniston

Oregon's experience with newborn screening for Fabry disease, Gaucher disease, Pompe disease and mucopolysaccharidosis type I

Sarah Viall, Anna Dennis, Sara Denniston, Amy Yang

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Outcome of Newborn Screening for Congenital Adrenal Hyperplasia at Two Time Points

Nazaneen Eshragh, Luong Van Doan, Kara J. Connelly, Sara Denniston et autres

BACKGROUND/AIMS: Screening newborns for congenital adrenal hyperplasia (CAH) is problematic owing to the dynamic changes in serum 17-hydroxyprogesterone (17-OHP) levels following birth. Our study objectives were to determine the accuracy of screening, severity of CAH, and biochemical and clinical outcomes of cases …

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Transient versus Permanent Congenital Hypothyroidism after the Age of 3 Years in Infants Detected on the First versus Second Newborn Screening Test in Oregon, USA

George A. Ford, Sara Denniston, David E. Sesser, Michael R. Skeels et autres

BACKGROUND/AIMS: The newborn screening (NBS) program in Oregon, USA, collects two routine specimens in all infants. The aim of our study was to determine the incidence of permanent versus transient congenital hypothyroidism (CH) in infants detected on the first versus second screening …

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Short-term and Long-term Follow-up 2 - Emerging Conditions (Get Ready!) Tuesday, Oct. 28 - 10:30am-12:00pm

Sara Denniston, Inderneel Sahai, T. H. Zytkovicz, John I. Bailey et autres

Background: The New England Newborn Screening Program (NENSP) has used low citrulline (Cit) as a biomarker to screen for the proximal UCDs [ornithine transcarbamylase (OTC), carbamylphosphate synthase (CPS) deficiency, and N-acetylglutamate synthase (NAGS)] since 2004. Low plasma Cit has been reported in …

Short-term and Long-term Follow-up #1 - Re-assessing Business as Usual in Follow-up

Lisa Feuchtbaum, Sara Denniston

In relation to reassessing business as usual: I came into the newborn screening program with fresh eyes, this opened the doors for unbiased evaluations on processes and changes that needed to be made. My presentation will start with a brief overview of …