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

Objectives:

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 59th 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 Deficiency Congenital Adrenal Hyperplasia

Congenital Hypothyroidism

Cystic Fibrosis

Galactosemia Homocystinuria

Maple Syrup Urine Disease

Medium Chain Acyl-CoA Dehydrogenase

DeficiencyPhenylketonuria Severe Combined

Immunodeficiency3 Sickle Cell Diseases Tyrosinemia 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 24-48 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 ResearchLittle & 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 www.dshs.state.tx.us/lab/AbonormalMailer.pdf

• 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 http://www.savebabies.org/practitioners_disorders.htmlFigure 2. Phenylketonuria Algorithm. Adapted from ACMG, 2012b. Retrieved from http://www.savebabies.org/practitioners_disorders.html

• 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 ProgramView the DSHS Specimen Collection Video for additional

information on elements of screening, supplies needed, timeliness, and how to appropriately collect and mail samples.

Baby’s First Test March of Dimes Genetic Alliance: 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.

ReferencesAmerican College of Medical Genetics and Genomics. (2012a).  Phenylketonuria act sheet. Save

babies through screening foundation. Practitioners: Disorder descriptions. Retrieved October

2nd, 2013 from http://www.savebabies.org/practitioners_disorders.html.American College of Medical Genetics and Genomics. (2012b). Phenylketonuria algorithm. Save

babies through screening foundation. Practitioners: Disorder descriptions. Retrieved October

2nd, 2013 from http://www.savebabies.org/practitioners_disorders.htmlBrown, L., Xu-Bayford, J., Allwood, Z., Slatter, M., Cant, A., Davies, E. G., . . .

Gaspar, H. B. (2010). Neonatal diagnosis of severe combined immunodeficiency leads tosignificantly improved survival outcome: the case for newborn screening. Journal of theAmerican Society of Hematology, 117(11), 3243-3246. doi: 10.1182/blood-2010-08-300384

Centers for Disease Control and Prevention. (September 2013). Newborn screening:Saving lives for 50 years. Retrieved October 8th fromhttp://www.cdc.gov.libux.utmb.edu/features/newbornscreening50years/

Little, C. M. & Lewis J. A. (2008). Newborn screening. Newborn and infant nursingreviews, 8(1), 3-9. Retrieved fromhttp://www.sciencedirect.com.libux.utmb.edu/science/article/pii/S1527 36907001845

National Library of Medicine. (2011). Newborn screening tests. Retrieved October 11,2013 from http://www.nlm.nih.gov/medlineplus/ency/article/007257.htM

Save Babies Through Screening Foundation. (n.d.). Practitioners: Disorder Descriptions.Retrieved October 2, 2013 from http://www.savebabies.org/practitioners_disorders.html

Texas Department of State Health Services. (2013a) All Texas newborns are screened

for these disorders. Retrieved September 29th, 2013 fromhttp://www.dshs.state.tx.us/newborn/screened_disorders.shtm

Texas Department of State Health Services (2013b) Laboratory services. Retrieved

October 4th, 2013 from www.dshs.state.tx.us/lab/AbonormalMailer.pdfTexas Department of State Health Services. (2013c). Newborn screening. Retrieved

October 11, 2013 from http://www.dshs.state.tx.us/newborn/overview.shtmTexas Department of State Health Services. (2013d). Newborn screening – frequently

asked questions. Retrieved October 13, 2012 fromhttp://www.dshs.state.tx.us/lab/nbsFAQ.shtm#optOut

Texas Department of State Health Services (2013e). Newborn screening news fall

2012. Retrieved October 13, 2012 fromhttp://www.dshs.state.tx.us/newborn/NEWBORN-SCREENING-NEWSFALL2012.doc#Healthcare%20Provider%20Responsibilities

%20Regarding20Storage%20and%20Use%20of%20Newborn%20Screening

%20%28NBS29%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 http://www.dshs.state.tx.us/lab/nbs_article.shtm