Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.

Slides:



Advertisements
Similar presentations
Mass Screening Using Tandem Mass Spectrometry: Friend or Foe?
Advertisements

1 Chapter 42 Disorders of Amino Acid Metabolism Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved.
Newborn Screening in Texas Jann Melton-Kissel Susan U. Neill.
Eric Niederhoffer SIU-SOM Year Two Review Part 1.
The Newborn Screening Quality Assurance Program. W. Harry Hannon, Ph.D. Chief, Newborn Screening Branch Centers for Disease Control and Prevention.
EMGO Institute for Health and Care Research Quality of Care Martina Cornel, MD, PhD and Carla van El, PhD The promises of genomic screening: building a.
An Introduction to Indiana’s Newborn Screening Program Maternal and Children’s Special Health Care Services Genomics and Newborn Screening Program.
 Newborn Screening Baylor College of Medicine Anoop Agrawal, M.D.
Inborn Errors of Metabolism A Hospitalist’s Approach
Inborn Errors of Metabolism Robert D. Steiner, MD Associate Professor, Pediatrics and Molecular and Medical Genetics Head: Division of Metabolism OHSU.
Pediatric Continuity Clinic Curriculum Created by: Ranjit Shenoy
Newborn Screening Overview Marie Mann, M.D., M.P.H. U.S. Department of Health and Human Services Health Resources and Services Administration Maternal.
Genetic screening.
Genetic testing Biochemical genetic testing Cytogenetic testing Direct genetic testing Diagnostic testing Predictive testing Carrier testing Prenatal testing.
AMCHP 2005 Conference The Expansion of the Tennessee Genetics and Newborn Screening Program and Website Teresa M. Blake, MS, Genetic Counselor Beth Wilson,
DNA DAY Family Feud. 3. Stroke 1.Heart Disease 2. Cancer 4. Diabetes 5. Alzheimer’s XXX There is a genetic component to which of the top.
National Center for Environmental Health Centers for Disease Control and Prevention Carla D. Cuthbert, Ph.D. Chief, Newborn Screening and Molecular Biology.
Newborn Screening via Tandem Mass Spectrometry, Michigan, 2006 Steven Korzeniewski, MS, MA, William Young, PhD, and Violanda Grigorescu, MD, MSPH, Michigan.
Region 4 Genetics Collaborative NCC/RC Annual Meeting November 17, 2009 Region 4 Genetics Collaborative Long-term Follow-up Projects.
- Genetic Testing - - Genetic Counseling - - Genetic Therapy - By: Austin Justin Amanda Brie.
Newborn Screening in Washington Cristine M Trahms, MS, RD, FADA Center on Human Development and Disability Division of Genetics and Development Department.
Genetic testing: Past, present, future
The Newborn Screening System
Common Thyroid Disorders in Children
EMGO Institute for Health and Care Research Quality of Care Martina Cornel, MD, PhD Professor of community genetics & public health genomics Genetic screening.
Newborn Screening and Children’s Special Health Care Services
Continuity Clinic The Exciting, Emotional and often Misunderstood World of.
EMGO Institute for Health and Care Research Quality of Care Martina Cornel, MD, PhD Professor of community genetics & public health genomics Genetic screening.
From Newborn Screening to Maternal Health
I have no relevant financial relationships with the manufacturers of any commercial products and/or provider of commercial services discussed in this CME.
Dr Shahida Mushtaq.  provides advanced understanding and applied knowledge in the theory and practice of Clinical Biochemistry  a critical understanding.
 UMELISA  Birth defects Down syndrome Congenital hypothyroidism Phenylketonuria Biotinidase deficiency HIV 1+2 Hepatitis B Hepatitis C HTLV I +II Chagas.
1.  Beginning of heart, lungs, kidney, brain, appendages  Sexual differentiation  Limited movement  Sensitive to toxins  No audio or visual sensors.
Newborn Screening in Wisconsin Jill Paradowski RN, MS Newborn Screening Coordinator Southeast region of Wisconsin.
From newborn screening to preconception care: PKU mothers and their offspring Violanda Grigorescu, MD, MSPH, William Young, PhD, Karen Andruszewski, MA,
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.
Genetic testing: Past, present, future. What is Genetic Testing? A genetic test is the analysis of human DNA, RNA, chromosomes, proteins, or metabolites.
TEXAS NEWBORN SCREEN PRESENTED BY: SHAYNA BAUMAN & ROSA CARRANZA UNIVERSITY OF TEXAS MEDICAL BRANCH AT GALVESTON ADVANCED NEONATAL HEALTH ASSESSMENT GNRS.
Neonatal metabolic disorders Dr. Mohamed Haseen Basha Assistant professor (Pediatrics) Faculty of Medicine Al Maarefa College of Science and Technology.
What is this? What can it be used for?. Objectives Explore the inheritance of genetic disease in particular with reference to cystic fibrosis and Huntington’s.
Newborn screening Doc. MUDr. Marie Černá, CSc. Lecture No 423-H.
Newborn Screening Historical, Ethical, Technological Aspects
[State] Newborn Screening Public Policy [Members Names]
F Ahmadabadi F Ahmadabadi Child Neurologist ARUMS
Copyright © 2008 Wolters Kluwer Health | Lippincott Williams & Wilkins The Normal Newborn Chapter 12.
Bruno Sopko. Genetics Biochemistry Clinical medicine.
University of Nevada Reno Division of Health Sciences Nevada State Public Health Laboratory Newborn Screening (NBS) Program.
University of Nevada Reno Division of Health Sciences Nevada State Public Health Laboratory Newborn Screening (NBS) Program.
Practical aspects of implementing neonatal screening programmes EURORDIS conference Dubrovnik, 31 May 2013 Martina C Cornel Professor of Community Genetics.
Inborn Errors of Metabolism(IEM) Lecture 1 SDK December SDK December
The Expanding Expanded Newborn Screen R. A. Heidenreich, MD Professor of Pediatrics Division of Pediatric Genetics The University of New Mexico.
Neonatal screening programs: Should parents be given a choice of screening options? Marcel Verweij Ethics Institute, Utrecht University NL.
Dr. Laila Bastaki MBBCH,MSc,MD Director and consultant of KMGC Value of expanding program of newborn screening in Kuwait and it’s impacts over the first.
Extending neonatal screening programmes building on screening criteria ESPKU conference Liverpool, 20th Octobre 2012 Martina C Cornel Professor of Community.
EMGO Institute for Health and Care Research Quality of Care Martina Cornel, MD, PhD Professor of community genetics & public health genomics On behalf.
Croydon Health Services
NHS Antenatal and Newborn Screening Programmes: Key Messages 2016/17
Inborn Errors of Metabolism
Inborn Errors of Metabolism Emergencies in Neonates
NEONATAL SCREENING M.Prasad Naidu MSc Medical Biochemistry,
CONFLUENCE OF THE OLD AND THE NEW
primary and secondary use of dried blood spots
On behalf of the Tender NBS team
An Approach to Inborn Errors of Metabolism
The Newborn Screen.
NEWBORN SCREENING IN THE UK
Pedigree Analysis, Applications, and Genetic Testing
Chapter 10 Capillary Puncture Equipment and Procedure
Pakistan Society Of Chemical Pathologists Distance Learning Programme In Chemical Pathology Lesson No 20 Inborn Errors of Metabolism (Short Name: IEM)
Inherited Disorders.
Presentation transcript:

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Medium-chain acyl-CoA dehydrogenase US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Carnitine uptake defect US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Long-chain L-3-hydroxyacyl-CoA dehydrogenase US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Trifunctional protein deficiency US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Very long-chain acyl-CoA dehydrogenase US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Glutaric acidemia type 1 US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from 3-Hydroxy 3-methylglutaric aciduria US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Isovaleric acidemia US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from 3-Methylcrotonyl-CoA carboxylase US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Methylmalonic acidemia US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Beta ketothiolase US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Methylmalonic acidemia US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Propionic acidemia US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Multiple carboxylase US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Argininosuccinate acidemia US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Citrullinemia type 1 US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Homocystinuria US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Maple syrup urine disease US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Phenylketonuria/hyperphenylalaninemia US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Tyrosinemia type 1 US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Hearing screening US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Congenital hypothyroidism US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Congenital adrenal hyperplasia US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Sickle cell disease US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from S-Beta thalassemia US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Sickle-C disease US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Biotinidase US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Transferase deficient galactosemia (classical) US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Cystic fibrosis US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Severe Combined Immunodeficiency US, January 6, 2013

Footnotes available in notes section. Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from Critical Congenital Heart Defects US, January 6, 2013