TEXAS NEWBORN SCREEN PRESENTED BY: SHAYNA BAUMAN & ROSA CARRANZA UNIVERSITY OF TEXAS MEDICAL BRANCH AT GALVESTON ADVANCED NEONATAL HEALTH ASSESSMENT GNRS 5303 LEE ANN CATES, MSN, RN, NNP-BC, RRT-NPS DEBRA ARMENTROUT, RN, MSN, NNP-BC, PHD OCTOBER 19, 2013

Upon completion of this presentation, the learner will: Understand the purpose of the Texas Newborn Screen (NBS) Become familiar with the history of the Texas NBS Understand the NBS collection and testing process Review the disorders on the NBS Review current research theories and evidence based practice Examine long term outcome and management issues related to testing

WHAT IS THE TEXAS NEWBORN SCREEN?  Laboratory testing of 29 disorders for all Texas newborns.  Clinical care coordination for infants with out of range results.  Testing is required by Texas law, unless parents opt out for religious reasons. A parent must sign an official form in order to refuse testing. (Texas Department of State Health Services [DSHS], 2013d)

History of the Texas Newborn Screen  Mass screening of Texas newborns was made possible thru the discovery of the filter paper method for analyzing blood spots and the introduction of automated lab equipment. (DSHS, 2013e)

History of the Newborn Screen In 1963 Phenylketonuria became the first disease to be screened for. That is why the NBS is sometimes referred to as a “PKU”. Testing in Texas was mandated in 1965 by the 59 th legislature. Throughout the years, additional disorders have been added to the screening panel: 1963 Phenylketonuria (PKU) 1978 Galactosemia (GALT) 1980 Congenital Hypothyroidism (CH) 1983 Hemoglobinopathies (Hb) 1989 Congenital Adrenal Hyperplasia (CAH) (DSHS, 2013d) (DSHS, 2013e)

History of the Newborn Screen  The passage of Texas House Bill 790 in 2005 expanded testing to include conditions recommended by the American College of Medical Genetics.  The advent of Tandem Mass Spectrometry allowed Texas to test for:  2007 Biotinodase (BIOT)  2009 Cystic Fibrosis (CF)  2012 Severe Combined Immune Deficiency Syndrome (SCID) (DSHS, 2013f) (DSHS, 2013e)

 Most children may appear healthy at birth but may come from parents who are “silent carriers” of genetic conditions.  Newborn Screening allows for early identification of serious genetic and heritable disorders.  Early detection helps babies avoid illness, mental disability, physical disability, and even death. Why Do We Screen? (DSHS, 2013d)

Biotinidase DeficiencyCongenital Adrenal Hyperplasia Congenital HypothyroidismCystic Fibrosis GalactosemiaHomocystinuria Maple Syrup Urine DiseaseMedium Chain Acyl-CoA Dehydrogenase Deficiency PhenylketonuriaSevere Combined Immunodeficiency 3 Sickle Cell DiseasesTyrosinemia Type I 4 Fatty Acid Oxidation Disorders 9 Organic Acid Disorders 2 Urea Cycle Disorders What Disorders are Texas Newborns Screened For? (DSHS, 2013c)

HOW IS THE NBS DONE?  All newborns are tested twice. The first test is at the hospital when the baby is hours old. The second test is done by a healthcare provider at 7-14 days old.  The baby’s heel is pricked and drops of blood are collected onto a blood spot card.  All cards are sent to the state laboratory in Austin for analysis.  Results are sent to either the birth hospital or the infant’s doctor; who will in turn notify parents of any abnormal results. (DSHS, 2013c).

Today’s Research Little & Lewis identify the following as current trends in NBS research: Efficacy of NBS and early detection of conditions Standardizing NBS across the country Best practice guidelines for management of abnormal reports The future technologies of the NBS The Centers for Disease Control and Prevention is conducting research on: Expanded Newborn Screens to include more conditions (Little & Lewis, 2008) (Centers for Disease Control and Prevention [CDC], 2013

Outcomes and Management A case manager from the Texas Department of State Health Services (DSHS) contacts the infant’s healthcare provider and guardian when follow up testing is needed. Follow up testing is recommended if any part of a NBS comes back abnormal or “out of range”. Either a repeat NBS or additional lab testing is recommended depending on whether the result is considered to be in a “critical range” or not. An abnormal or out of range result does not diagnose a disorder. It indicates that the baby may be at higher risk and requires additional testing. If additional testing confirms diagnosis, treatment can begin immediately. (DSHS, 2013e) (National Library of Medicine [NLM], 2011)

Outcomes and Management Figure 1. Sample of Abnormal Texas Newborn Screen Report. Adapted from Texas Department of State Health Services, 2013b. Retrieved from ‎ ‎ The “Screening Result Notes” section of an abnormal report will provide additional information on possible identified disorders, recommendations for follow up testing, and if the infant should be referred to a specialist. (DSHS, 2013b) Figure 1

Outcomes and Management Unfortunately, there is a lack of studies and statistics demonstrating the overall effectiveness of NBS in improving patient management and outcomes. However, many studies on specific diseases such as Cystic Fibrosis and Severe Combined Immunodeficiency exist; and they have found that early recognition and treatment improves patient prognosis. (Little & Lewis, 2008) (Brown et al., 2010)

Figure 1 Figure 2 Disease Management Figure 1. Phenylketonuria ACTion Sheet. Adapted from ACMG, 2012a. Retrieved from Figure 2. Phenylketonuria Algorithm. Adapted from ACMG, 2012b. Retrieved from The Save Babies Through Screening Foundation website provides access to ACTion sheets and treatment algorithms from the American College of Medical Genetics and Genomics (ACMG). ACTion sheets & algorithms are disease specific plans with step by step clinical guidelines for healthcare providers to follow when a NBS shows an out of range result. (Save Babies Through Screening Foundation, n.d.)

Additional Resources  Texas Newborn Screening Program Texas Newborn Screening Program  View the DSHS Specimen Collection Video for additional information on elements of screening, supplies needed, timeliness, and how to appropriately collect and mail samples.Specimen Collection Video  Baby’s First Test Baby’s First Test  March of Dimes March of Dimes  Genetic Alliance: Genetic Alliance:  Save Babies Through Screening Foundation Save Babies Through Screening Foundation  Texas Newborn Screening Program Texas Newborn Screening Program  View the DSHS Specimen Collection Video for additional information on elements of screening, supplies needed, timeliness, and how to appropriately collect and mail samples.Specimen Collection Video  Baby’s First Test Baby’s First Test  March of Dimes March of Dimes  Genetic Alliance: Genetic Alliance:  Save Babies Through Screening Foundation Save Babies Through Screening Foundation (DSHS, 2013a)

Summary Texas newborns are screened for serious medical conditions in order to prevent illness, disability, and death. Through the years, advances in medical research and technology have allowed the Texas Newborn Screen to expand to 29 conditions. Current research is focused on expanding screenings, improving efficacy, standardizing screening, establishing best practice guidelines for abnormal screens, and developing future technologies for screening. Follow up of abnormal screens is coordinated by case managers from DSHS, who assist providers and parents in ensuring that the NBS is repeated and/or additional diagnostic tests are performed.

References American College of Medical Genetics and Genomics. (2012a). Phenylketonuria act sheet. Save babies through screening foundation. Practitioners: Disorder descriptions. Retrieved October 2nd, 2013 from American College of Medical Genetics and Genomics. (2012b). Phenylketonuria algorithm. Save babies through screening foundation. Practitioners: Disorder descriptions. Retrieved October 2nd, 2013 from Brown, L., Xu-Bayford, J., Allwood, Z., Slatter, M., Cant, A., Davies, E. G.,... Gaspar, H. B. (2010). Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening. Journal of the American Society of Hematology, 117(11), doi: /blood Centers for Disease Control and Prevention. (September 2013). Newborn screening: Saving lives for 50 years. Retrieved October 8 th from Little, C. M. & Lewis J. A. (2008). Newborn screening. Newborn and infant nursing reviews, 8(1), 3-9. Retrieved from National Library of Medicine. (2011). Newborn screening tests. Retrieved October 11, 2013 from Save Babies Through Screening Foundation. (n.d.). Practitioners: Disorder Descriptions. Retrieved October 2, 2013 from

Texas Department of State Health Services. (2013a) All Texas newborns are screened for these disorders. Retrieved September 29 th, 2013 from Texas Department of State Health Services (2013b) Laboratory services. Retrieved October 4 th, 2013 from ‎ Texas Department of State Health Services. (2013c). Newborn screening. Retrieved October 11, 2013 from Texas Department of State Health Services. (2013d). Newborn screening – frequently asked questions. Retrieved October 13, 2012 from Texas Department of State Health Services (2013e). Newborn screening news fall Retrieved October 13, 2012 from FALL2012.doc#Healthcare%20Provider%20Responsibilities%20Regarding 20Storage%20and%20Use%20of%20Newborn%20Screening%20%28NBS 29%20Blood%20Spot%20Cards%20-%20House%20Bill%20411 Texas Department of State Health Services (2013f). Newborn screening program nearly quadruples number of tests on all Texas infants. Retrieved October 17, 2013 from