Bradford L. Therrell, MS, PhD, has over 27 years of experience with the Texas Department of Health as well as over 10 years of experience at the University of Texas Health Science Center at San Antonio. He is also certified as a high complexity laboratory director by the American Board of Bioanalysis. Dr. Therrell currently works as a professor and researcher at UTHSCSA and is director of the National Newborn Screening and Genetics Resource Center.
How did you become interested in the field of neonatal screening tests?
I was given the responsibility to manage the Texas Newborn Screening Laboratory Program as part of my job description at the Texas Department of Health in 1978.
Why is it important to perform neonatal screening tests on newborns?
Newborn screening is an essential preventive public health program that allows for early detection, diagnosis and treatment for congenital conditions that can cause catastrophic health problems, including death, if undetected and untreated.
What are some of the most common types of tests available?
Programs exist in all states, and each has its own required screening conditions. Most common are tests for phenylketonuria, congenital hypothyroidism, congenital adrenal hyperplasia, sickle cell diseases, biotinidase deficiency, galactosemia, and many other fatty acid oxidation, organic acid and amino acid disorders.
How does a neonatal screening test work?
A small amount of blood is taken from the baby's heel prior to discharge from the hospital shortly after birth. This blood is absorbed onto a special collection paper, dried and sent to the designated state screening laboratory. The testing is performed by qualified technical experts and the results returned to the hospital and/or designated primary care provider for follow-up. If out-of-range or unsatisfactory specimen test results are reported, then additional testing may be required - in some cases, the follow-up need may be immediate.
Are there any risks involved for the newborn being tested?
The procedure is not considered painful to the baby and it is minimally invasive, with only a small prick of the heel necessary. If follow-up is required as a result of testing results, parents should respond in a timely manner - within the same day, in some cases. Some conditions may cause severe problems or death if follow-up is not performed quickly.
What is the most critical piece of advice you can offer to a parents who wish to to test their newborns?
Parents should be aware of the required testing in their particular state. These tests are given in tabular form at http://genes-r-us.uthscsa.edu/ (see 'Conditions Screened by US Programs'). An interactive map on this website also gives program contact information on a state by state basis and linkages to each program's website. If follow-up is requested, then parents should respond accordingly in a timely way.
Do you have any additional advice or suggestions to offer regarding neonatal screening tests?
Newborn screening is a valuable service that can prevent terrible health problems. Parents should be aware of it and should allow their newborn to receive the required testing. Parents should make themselves aware of the program requirements in their particular state.
For more on neonatal screening tests, please read our Neonatal Screening Test Guide.
