Table of Contents

A Brief History of Texas Newborn Screening

House Bill 411

NBS Advisory Committee

Texas Pulse Oximetry Project (TxPOP)

Free Healthcare Provider Training

All In a Day's Work for NBS Nurses

The Texas Newborn Admissions Notification (NAN) Project

2012 Genetics Conference

The Texas Early Detection & Hearing Intervention (TEDHI) CY2010 Annual Report

A Brief History of Texas Newborn Screening

The screening of large numbers of newborns in Texas was made possible and economically feasible with the discovery of the filter paper method for analyzing blood spots, coupled with the introduction of automated laboratory equipment. Texas added screening for these genetic and heritable disorders in:

1963 for Phenylketonuria (PKU),
1978 Galactosemia (GALT),
1980 Congenital Hypothyroidism (CH),
1983 Hemoglobinopathies (Hb),
1989 Congenital Adrenal Hyperplasia (CAH)

In 2006, with the development of Tandem Mass Spectrometry (MS/MS), DSHS began testing for a panel of metabolic disorders recommended by the American Academy of Genetics. Following the addition of MS/MS, these additional disorders were added in: 

2007 Biotinodase (BIOT),
2009 Cystic Fibrosis (CF), and
2012 Severe Combined Immune Deficiency Syndrome (SCID) will be added in late 2012.

Presently, the State of Texas screens for 29 disorders, including hearing screening. Filter paper specimens are submitted to the DSHS Laboratory for testing. With the addition of MS/MS and the other disorders, additional nursing staff and Public Health and Prevention Specialists were hired. The NBS Medical Director assessed the program and determined that the processes carried out by the staff were more consistent with Clinical Care Coordination than Case Management, and the name was changed to reflect the process.

Early diagnosis is critical in the effort to improve the outcome of infants diagnosed with one of the screened disorders. If a specimen is abnormal, it is reported to the Clinical Care Coordination staff for follow-up. The timely collection, submission, evaluation, and reporting of the results of the NBS specimen is critical. Specimens that are improperly collected and submitted, including inaccurate or incomplete demographic data, can lead to delayed care and diagnosis. September 2013 marks 50 years of NBS nationally. As Texas moves toward this milestone we will be planning the celebration by highlighting one or more disorders in each upcoming newsletter.

Healthcare Provider Responsibilities Regarding Storage and Use of Newborn Screening (NBS) Blood Spot Cards - House Bill 411

Effective June 1, 2012, providers must distribute both the Texas Newborn Screening Parent Information (page one of 2012 NBS collection kits) and the Parental Decision for Storage and Use of Newborn Screening Blood Spot Cards (page two of 2012 NBS collection kits) to parents at the collection of each NBS. Providers must advise parents that they should read each page, select an option and sign the form. If requested by the parent, providers must return the completed Parental Decision form to DSHS. Parents may also choose to mail it themselves. An 8 ½ x 11 version of the Parental Decision form is available on the DSHS website for facilities using the 2010/2011 kits. The Directive to Destroy form (page two of 2010/2011 kits) is not valid for any specimen collected after June 1, 2012. Providers using 2010/2011 kits should discard page two and distribute the 8½x11 version to parents.

Newborn Screening Advisory Committee

DSHS Commissioner, Dr. David Lakey appointed three members to the Newborn Screening Advisory Committee. Michael Speer, MD, from Houston, and Susan Spencer, RNC-OB from Tyler have been reappointed to the committee, and new member, Kelly McDonald from Lorena.

Texas Pulse Oximetry Project (TxPOP)

Newborn screening using pulse oximetry can identify infants with critical congenital heart defects (CCHD). It has been estimated that at least 280 infants with an unrecognized CCHD are discharged each year from newborn nurseries in the United States. Infants with CCHD are at risk for significant morbidity or mortality early in life. Beginning in July 2012, the DSHS NBS Unit funded an educational initiative related to CCHD in newborns. The project is a collaboration of The University of Texas Health Science Center at San Antonio (UTHSCSA), Baylor College of Medicine and Texas Children’s Hospital (TCH). This educational initiative provides training for nurses, physicians and other healthcare professionals at delivering hospitals in Texas on CCHD newborn screening using pulse oximetry.

A core team of neonatologists, pediatric cardiologists, pediatricians, newborn nurses and educators identified hospitals in South Texas and the Houston area to participate in this educational initiative. The team will conduct a needs assessment to help identify the infrastructure needed to determine the best methods for delivering training. Once the curriculum and education materials are developed, UTHSCSA, BCM and TCH will implement the training at the identified sites providing continuing education credits.

After each training, participants will have an opportunity to evaluate the training and provide feedback. Once the trainings have been completed, UTHSCSA, BCM and TCH will begin monitoring the effectiveness of the program with the assistance of a data analyst from the Texas Health Institute. Data collected will be used to evaluate the impact of the educational sessions and materials on the CCHD screening process and to capture information on short-term health outcomes.

Texas Health Steps Free Online Training for Healthcare Providers

Newborn Screening - To prepare Texas healthcare providers to deliver timely and appropriate screening for genetic and congenital disorders to all newborns in Texas, correctly interpret and act upon the results of the screening, and explain this screening and results to parents.

Sickle Cell Disease & Trait - Learn about the process for screening and management of sickle cell disease and trait in Texas newborns.

When To Refer To A Geneticist - Information and resources to help Texas Health Steps providers and other healthcare professionals become aware of possible genetic conditions and make appropriate referrals to genetics specialists.

All In A Day's Work for NBS Nurses

Congenital Adrenal Hyperplasia (CAH) is an inherited condition that can be identified with the newborn screen. CAH happens when certain enzymes in the adrenal glands are missing. Enzymes start chemical reactions in the body. The missing enzymes cause the glands to make too little or too much of certain hormones. A baby who has a severe form of CAH must be treated quickly after birth. If not, the baby may have an “adrenal crisis” that can cause dehydration, shock, and death.

For this and many other reasons, NBS nurses work Saturdays to be available to respond quickly to a diagnosis of CAH and any other critical disorder. Recently the DSHS lab released an urgent CAH result on a Saturday. With a call to the hospital, it was determined that the baby had already been discharged. The NBS nurse called the primary care physician (PCP) and reported the elevated CAH result. The doctor sent the baby to the emergency department (ED) even though the baby was asymptomatic. The ED sent the baby home with a pending 17 OHP result (the confirmatory test for CAH). On the following Monday, the NBS nurse called to follow-up with the PCP. After again explaining the high reading, the PCP sent the baby back to the ED where the baby was admitted to the hospital. Treatment was started early and a crisis was avoided. This is all in a day’s work for the NBS nurses who protect  the babies of Texas every day.

The Texas Newborn Admissions Notification (NAN) Project

Over the last year, the Department of State Health Services (DSHS) Texas Early Hearing Detection and Intervention (TEHDI) Program worked with the TEHDI management information system (MIS) vendor, Optimization Zorn (OZ Systems), to develop and implement an easier way to report hearing screening data. The project is made possible by grant funding through the Centers for Disease Control. The project is an opportunity for birthing facility staff to eliminate duplicate data entry, improve data quality and create a more efficient process for reporting data to the TEHDI Program.

The goal of the NAN project is to transfer demographic data automatically from a facility’s electronic health record system to TEHDI MIS. The project uses a nationally recognized health level seven message standard called admission, discharge, and transfer. This particular standard allows the TEHDI MIS to create and update a record with minimal steps from the birthing facility staff. The messaging provides a minimum of 22 demographic data elements that were previously entered manually by birthing facility staff. The staff will continue to link hearing screening results to the newborn’s record.

The NAN project is now in the implementation phase. OZ Systems began the project by conducting a survey of the birthing facilities. Interested facilities were provided an implementation guide that specified the stages of the project including:
1) validation testing to confirm the format and data elements;
2) end-to-end testing to verify the transmission method and security;
3) go live with the IP address and portal.

Thus far approximately 35 facilities in Texas are participating in various stages of implementation.

2012 Genetics Conference, "New Treatments New Research, New Dilemmas" 

Texas Department of State Health Services Newborn Screening and Genetics Unit completed a successful year of Genetics Conferences. This summer’s conferences, “Genetics: New Treatments, New Research, New Dilemmas” were held in Austin, San Antonio, and Dallas. Nationally recognized speakers discussed emerging therapies and treatment of genetic conditions. The topics included connective tissues/skeletal dysplasias, lysosomal storage diseases, and neurofibromatosis (as a model of signaling defects). An Ethics session was included in each conference as well as a panel discussion with local geneticists and consumers.

The Conference brought together physicians, nurse practitioners, nurses, and clinical staff to learn about new treatment therapies available to patients with genetic disorders. In addition, participants were able to identify local resources for genetic referrals, and discussed the ethical dilemmas that are brought about with the availability of new technologies. The Conference goal was accomplished by educating the participants about genomic advances that are reflected in today’s new and emerging therapies. These advances hold the promise of more effective diagnosis and treatment modalities for patients with genetic conditions. A special thanks to all the speakers, panelists, consumers, planning committee and Cardea Services (training contractor), who put together the conferences. We are pleased to have been able to present this opportunity and look forward to the 2013 Genetics Conferences.

The Texas Early Detection & Hearing Intervention (TEHDI) CY2010 Annual Report 

The Texas Early Detection & Hearing Intervention (TEDHI) CY2010 Annual Report is available to view and/or download from the TEHDI website. The report was a recommendation of the Centers for Disease Control and Prevention and the Health Resources Services Administration. Included in the report are program history, program accomplishments, projects and future plans for the TEHDI Program.


External links to other sites are intended to be informational and do not have the endorsement of the Texas Department of State Health Services. These sites may not be accessible to persons with visual impairment.








Last updated October 11, 2012