PPT-Indiana State Dept. of Health- Newborn Screening

Refreshers Best Practices and Program Updates Mission of ISDH Newborn Screening Program Ensure that every newborn in Indiana receives statemandated screening for all designated genetic conditions. Critical Congenital Heart Diseases. (CCHD). Lazaros Kochilas, MD. Associate Professor of Pediatrics. University of Minnesota. Disclosures and Support. I will not discuss off label use and/or investigational use in my presentation. Leora. Langdon RN, CPNP. Heather Workman, MS. Charlotte Lemming MSW, . LISW-S. Robert Fink, M.D.. Update in CF Newborn Screening. Testing:. Cystic Fibrosis Testing in NBS . Began August 30,2006 . Initially an IRT (testing pancreatic function) >200 was an abnormal result and triggered DNA test. Joseph A. Bocchini, Jr. MD. Professor and Chairman. Department of Pediatrics . Louisiana State University Health – Shreveport. September 23, 201. 1. Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. . Strategy Summit and Awareness Campaign. Newborn screening is rapidly changing. Number of Conditions Screened. # of. States. But…. . We in this room are intimately aware of these changes, the complexities inherent making these changes happen in a rational way across all states, and magnitude of effort involved in implementing a comprehensive program of screening, follow-up, and treatment. Alex R. Kemper, MD, MPH, MS. January 17, 2014 . Condition Review Workgroup (CRW). CRW Chair. Duke University. CRW Members. Role. Institution. Alex R. Kemper, MD, MPH, MS. Chair. Duke University. Anne M. . Indiana State Department of Health. Pulse Oximetry Newborn Screening for CCHD in Indiana. June 2011:. . Indiana General Assembly amended state newborn screening law (IC 16-41-17) to include pulse oximetry screening for critical congenital heart disease (CCHD). Refreshers, Best Practices, and Program Updates. Mission of ISDH Newborn Screening Program. Ensure that every newborn in Indiana receives state-mandated screening for all designated genetic conditions. Erin Burnette, NP-C. Emily Freeman, CPNP. Jamie Haushalter, CPNP. Objectives. Recognize the important factors in the maternal history and labor/delivery process which may affect the newborn. These factors include: pertinent social issues, chronic medical conditions in the mother, genetic risk factors, maternal/infant . Why is it important? . Tennessee Newborn Screening Program. What is a false negative?. When a test result. INCORRECTLY . indicates that a person does not have a specific genetic, congenital or acquired disease or condition.. Raising . Awareness in . Arizona. January 23, 2017 . Presenting To. APHL. | SCID Quarterly Call . Sondi Aponte . | Education & Outreach Manager. Office of Newborn Screening, Arizona State Laboratory. Spinal Muscular Atrophy (SMA) Exon 7 Deletion (Pathogenic Variant) in Survival Motor Neuron Gene ( SMN1 ) Condition Description: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerati Elevated C8 with Lesser Elevations of C6 and C10 AcylcarnitineMediumChain AcylCoA Dehydrogenase Deficiency (MCAD)Differential Diagnosis: Mediumchain acylCoA dehydrogenase deficiency (MCAD). MediumChai Robert Clark. Clinical Ethics and Law Group . Faculty of Medicine . University of Southampton . Newborn Screening. Modern Advancements?. Fragile X Syndrome?. Lymphoblastic Leukaemia?. Hereditary . Haemochromatosis. Newborn Screening . for . Sickle Cell Disease. Kwaku Ohene-Frempong, M.D. .. Sickle . Cell Foundation of . Ghana. Newborn Screening. :. A . public health program . for early identification of conditions for which early and timely interventions can lead to the elimination or reduction of associated mortality, morbidity, .