Babies born in Central Texas are required to undergo a newborn genetic screening as part of the state's public health programs. This year, Texas is implementing an expansion of newborn genetic screening from 7 to 27 disorders that can be tested with a sample of an infant's blood. The screening is designed to identify metabolic disorders that cause serious health problems including blindness, deafness, mental retardation, growth disorders, and developmental delay.

"Better technology and science is allowing us to screen for more disorders. As a result, the severe effects of these metabolic disorders can be lessened or prevented if they are caught early," says Central Texas pediatrician Courtney Dudley, M.D. of Lone Star Pediatrics. "As a result, parents should have added peace of mind, especially if they or members of their family have a genetic pre-disposition for any a number of inherited metabolic disorders."

Dr. Dudley informs her expectant parents about the newborn screening before the baby is born. It is done automatically at the facility where the baby is delivered. Although the metabolic disorders are rare in babies with no genetic connection, if your baby is born in Texas, he or she will be screened and your physician will receive a report. Parents can opt out for religious reasons, but most prefer to perform a test that allows for early detection and treatment of metabolic disorders.

"Although these inherited conditions are rare, the earlier they are recognized and treated, the likelihood of a good prognosis increases," says Dr. Dudley. She prepared the following set of questions and answers to assist parents in better understanding the expanded process.

What is newborn genetic screening?

Newborn genetic screening is a public health program that evaluates for potentially treatable genetic disorders of body metabolism. These rare conditions can abnormally affect the physical and mental development of an infant and may even be life threatening depending on the severity of the symptoms. If these disorders are diagnosed early, many of the serious effects can be lessened or completely prevented. The newborn screen also allows for detection of carriers of certain genetic disorders. The Texas Department of State Health Services receives approximately 800,000 newborn screening specimens per year. The screening process returns, on average, 12,000 abnormal results that require follow up and 400 infants are actually diagnosed with a disorder.

How is the test obtained?

This test involves obtaining a sample of blood from the baby's heel. The sample should be obtained at 24 to 48 hours of life at your hospital where your baby is delivered. The blood is allowed to dry on an absorbent piece of filter paper. The local hospital will then deliver the sample to the appropriate laboratory.

What tests are included in the Texas newborn screening program?

Every state varies in the number of disorders that are included in their screen. Lawmakers of each state enact legislation that defines the state newborn screening programs. Most states are currently reviewing and revising existing newborn screening programs.

In December 2006, legislators approved an expansion of the Texas newborn screening program. The current newborn screen in Texas tests for phenylketonuria, galactosemia, congenital hypothyroidism, three hemoglobinopathies, and congenital adrenal hyperplasia. The screen will expand from testing these seven disorders to a total of 27 disorders. The new program will be fully implemented by spring of 2007.

If my baby is born before the expanded test is implemented, where can I obtain an expanded newborn screen?

As many states are in the process of expanding their newborn screening programs, there are additional resources for obtaining an expanded newborn screen if desired. There are 4 testing centers in the United States that offer expanded newborn screening. All testing centers vary in the price and the number of tests offered. These testing centers must be contacted to obtain a newborn screening kit ahead of time. The test can then be performed in the hospital where your baby is delivered or at your pediatrician's office. This kit is then mailed back to the appropriate laboratory. Here are the names of the testing centers, contact numbers, and approximate price and number of tests offered.

1. Pediatrix Screening (1-866-463-6436) : 50 disorders for $95
2. Baylor Medical Center (1-800-422-9567) : 30 disorders for $25
3. Mayo Medical Laboratories (1-800-533-1710) : 35 disorders for $50
4. University of Colorado (1-303-724-3826): 25 disorders for $25

Who should get an extended newborn screen?

Although any newborn can be evaluated with an expanded genetic screen, this test is strongly recommended for newborns with additional risk factors. These risk factors include a positive family history for an inherited metabolic disorder, a previous child affected by a metabolic disorder, or a history of an infant who died suddenly due to a suspected metabolic disorder.

Who pays for newborn screening?

Individual states finance their newborn screening programs in different ways. Some states collect fees of approximately $15 to $60 per newborn. Some health insurance companies and other programs may also cover the cost of this fee. Public health system funding is usually required as these fees may not always fully cover the cost of the screening test.

Public health case management staffs are developing a cost-effective approach to newborn screening expansion. In addition to purchasing new lab equipment, new staff must be hired and physical modifications to current laboratories must be implemented. The price of newborn genetic screening will continue to vary with these revisions and will hopefully result in improved insurance coverage. Contact your insurance company to find out if the screening test is covered on your individual health plan.

Are there resources on the web that will provide more information about newborn screening?

1. National Newborn Screening and Genetics Resource Center
   
2. U.S. Department of Health and Human Services / Maternal Child Health Bureau
   
3. Texas Department of State Health Services
   
4. American Academy of Pediatrics
   

What is the future of newborn genetic screening?

As detection and diagnosis of various genetic disorders improve, it is hopeful that more tests will be added to the newborn screen. The American Academy of Pediatrics (AAP) aspires to create a national screening program that includes all states implementing universal newborn genetic testing. It is the goal of the AAP to establish this national newborn screening program to test all newborns for over 75 genetic disorders.

"We expect the new screening protocol to be fully implemented across the state by February or March," concludes Dr. Dudley.