Expanded Newborn Screening: What Every Parent Should Know

Is Newborn Screening necessary? Helpful? Recently a new technology called Tandem Mass Spectrometry (MS/MS) makes it possible for one blood sample to test for as many as 30 different conditions.

When Lisa Sandoval put her toddler in bed for his afternoon nap on a normal day three years ago, she had no way of knowing that he would have a seizure while sleeping. She also had no way of knowing that the seizure would be caused by an untreated genetic disorder. It never occurred to her that the disorder could have been detected at birth with the use of expanded newborn screening.

Instead, Sandoval returned to her son a few hours later to find him unresponsive, and she frantically called 911. "We rushed him to the nearest trauma center," the California mom recalls. She had to endure several days of her son's hospitalization, testing and even interviews with local authorities, who initially suspected her of child abuse.

Her son survived, but he was diagnosed with a rare metabolic disorder called Glutaric Acidemia Type 1, or GA1, that prevents his body from breaking down certain proteins. The seizure has left him with cerebral palsy and other complications.

If Sandoval had given birth in another state, her son may have automatically been tested for this disorder as a newborn. When diagnosed, he could have started the only treatment available -- a strict vegetarian diet -- that may have prevented his seizure. But her state did not offer the screening.

Newborn screening

Newborn screening is not new. Since the 1960s, all babies born in the US are required to be tested for a genetic disorder called phenylketonuria (PKU).

An infant is pricked on the heel to obtain a small blood sample when they are about 48 hours old, usually on the day they are to be discharged. The sample is sent to a state laboratory for testing. Over the years, screenings for additional diseases have become available, but they usually required separate tests. Recently, however, a new technology called Tandem Mass Spectrometry (MS/MS) makes it possible for one blood sample to test for as many as 30 different conditions, including GA1.

Some states are beginning to mandate MS/MS testing as part of their expanded newborn screening programs. Others states limit testing to a smaller number of diseases. To help explain this disparity, Dr. Jay Goldsmith, a neonatologist at Ochsner Clinic Foundation Hospital of New Orleans emphasizes the need to understand the difference between testing and screening.

"'Testing' is when you suspect a disease. There are signs," he explains, "or a family history of disease." When there are signs, as in Sandoval's case, it is obvious that testing is necessary. "Screening," he says, "is independent of any signs. It is really a public health measure to look at diseases."

Several of these diseases are rare. Other disorders have no known cure, so many states choose not to screen for them.

In addition, states are faced with legal and ethical issues. According to Dr. Goldsmith, some diseases may not "present themselves" for several years. A positive result could limit a parent's ability to obtain insurance for their infant, even though the disorder would not immediately affect the child.

Sandoval understands these concerns, but her objection is that she was not informed that such tests were even available, much less given the choice to use more comprehensive screening. "I wanted to have a chance to say 'yes' or 'no'," she says. Sandoval turned her disappointment into action. She was one of several parents who wrote California Governor Arnold Schwarzenegger urging him to expand newborn screening.

They received a victory this past summer when he signed a bill that nearly tripled the number of disorders screened, and includes GA1.

Private lab options

Parents who want to test their newborns for disorders like GA1, but who do not live in states that offer expanded screening, have the option of using private testing labs. Jane Cooper, CEO of Patient Care, a Milwaukee, Wisconsin patient-advocate company, sees this as part of a larger trend. "The whole healthcare area is changing," she says. "Individuals are becoming more involved." But there is a cost to this involvement. Private screenings can cost up to $90 and may require a separate visit to a pediatrician. Sandoval believes the test is worth it, even if it is not covered by insurance. To date, she estimates that her son's medical expenses have totaled nearly $700,000.

Understanding the results

There may also be an emotional cost to expanded newborn screening. Dr Stephanie Hassel, an Atlanta pediatrician, advises parents to make sure they are emotionally ready to receive a positive result. "Parents should be comfortable with whatever the outcomes of the tests are," she says, "even if there is no cure."

What if there is a positive result? "First, do not panic," advises Dr. Goldsmith. "Second, go to the pediatrician, have a retest and make sure you get the results."

Donna Upchurch is the mother of a toddler who was diagnosed with GA1 after an expanded newborn screening test. "I had never heard of metabolic disorders," she recalls. She received the private screening kit while banking her infant's cord blood. Her pediatrician administered the test, and Upchurch was surprised when it came back positive.

Her daughter was retested and Upchurch was eventually put in touch with specialists who put her baby on a strict diet. Now, her daughter is two years old and thriving. "She's perfectly normal," says Upchurch, except for her diet. The mom encourages families to be informed about expanded newborn screening tests. "Everybody should have a choice. Everybody should be aware," she maintains. "It is to your child's benefit."

More Information

March of Dimes -- www.modimes.org

American Academy of Pediatrics -- www.aap.org

To determine which screening tests are offered in your state, visit the National Newborn Screening and Genetics Resource Center -- http://genes-r-us.uthscsa.edu

Pediatrix (private testing lab) -- www.pediatrix.com