Fewer tests now for newborns

Had David Denney’s condition been detected shortly after birth and treated with a special diet, the boy, now 8 years old, would have developed normally. He would be able to speak and feed himself and wouldn’t need the now ever-present wheelchair.

But David was born before January 2002, when California’s program to screen newborns for serious inherited disorders was expanded from four conditions to about 30. In the 18 months since the expansion, 47 babies -- one in every 7,000 births -- have been diagnosed with disorders that wouldn’t have otherwise been detected in time to treat them properly.

Although the move came too late for David, his parents took comfort in knowing that other babies wouldn’t suffer his fate. That comfort was short-lived.

Even as 29 other states have moved to expand their newborn screening program, California has reduced the number of tests back to the basic four because of budget problems. Those tests, which include screenings for phenylketonuria, or PKU, and congenital hypothyroidism, are simpler and less expensive than the more recent additions.

Both the basic and more high-tech screenings are performed on a blood sample taken about a day after birth, detecting problems that, left untreated, cause mental retardation, seizures, coma or death. California was one of the first states in the nation to offer the additional tests, and the federal government hailed it as a model for other states.

But a one-time allotment of funds to test for the additional disorders, which are rare and detectable only by expensive technology called tandem mass spectrometry, expired last month. The state has no money to renew the pilot program, says Dr. George Cunningham, who directs the newborn screening program for the California Department of Health Services.

Cunningham’s department requested money to continue the program, but the state Department of Finance declined the request in light of the budget crisis.

Doctors, parent activists and public health groups say the program’s lapse will result in more infants going undiagnosed until it’s too late to prevent physical and mental damage. Caring for the few children affected, they say, will cost more than screening all the state’s newborns.

“There is extreme disappointment,” Cunningham says. “I am sure there will be women who are under the impression that their babies are being screened -- and they’re not. There will be misunderstandings and confusion. There will be babies who will be missed and will die.”

David’s mother, Amparo Denney, is furious. “I can’t believe the state,” she says. “I’m sure David will go through his $5-million insurance policy, and then he’ll be on Medi-Cal. It’s so shortsighted. ... Even if the test picks up one kid, it’s worth it.”

At his birth, David seemed to a healthy baby. But by 4 months, he was behind in his development. He soon became unable to keep down his formula. After months of medical tests, he was finally diagnosed with a rare, genetic condition called glutaric acidemia, type 1.

Cunningham says the program’s collapse is due entirely to finances, not philosophy; expanded screening is widely regarded as valuable.

“There is international support for tandem mass spectrometry,” says Dr. Stephen Cederbaum, a professor of pediatrics and medical genetics at UCLA. “We are laggards in California for allowing this program to lapse.”

Tandem mass spectrometry involves breaking apart molecules in blood and weighing the pieces on an atomic scale.

Precise weight measurements allow for the identification of particular molecules, such as certain enzymes, that can be defective and signal an inherited disorder.

Often a diagnosis is made before a baby shows any signs of illness. Babies with a disorder called MCADD, for instance, lack an enzyme required to burn fat. If the disorder isn’t detected soon after birth, a healthy-looking baby who goes without eating for a day or so -- perhaps due to a cold or diarrhea -- can suddenly have a seizure and suffer brain damage or death. Parents who know their baby has the disorder, however, can take preventive measures.

“More than half of these 47 had treatable conditions,” Cunningham says of the children diagnosed since the program began. “The others can still benefit through early diagnosis. So we considered it a successful program.”

The program, which ran for 18 months, operated largely on private fees collected from families or their health insurance providers (about $60 per child). Before January 2002, there was no tandem mass spectrometry screening in California. However, to pay for poor families, $1 million was needed in Medi-Cal funds (matched by $1 million in federal funds).

Expanded screening is cost-effective, proponents argue. According to one analysis, the costs of the initial hospitalization for an undiagnosed baby who suffers a metabolic attack is $25,000, and an additional $175,000 is needed to care for that child over his or her lifetime, says Dr. Edward McCabe, chief physician of Mattel Children’s Hospital at UCLA and a spokesman for the March of Dimes.

But nationwide, many states have hesitated to expand newborn screening due to cost; the tandem mass spectrometry machines are $350,000 each.

As a result, there is widespread inequity among states over how many disorders newborns are screened for, a fact noted in a recent General Accounting Office report that endorses screening. A child with a particular condition can be treated and grow up healthy in one state while a child in a neighboring state with the identical disorder could die in infancy.

“Cost is always an issue,” says Bradford Therrell, director of the National Newborn Screening and Genetics Resource Center in Austin, Texas. “But it’s not terribly expensive when you look at the overall cost of health care.”

“Money should not be the only consideration,” McCabe says. “The March of Dimes has taken the position that if these tests are medically effective, then we should be less concerned about the cost.”

And, adds Cederbaum, “it’s certainly nice when you’re the parent of one of these kids and they’ve dodged a bullet.”

Given national support for expanded screening, the program could be reinstated once the state’s budget crisis is resolved, although that process may take 18 months, says Jennifer Richards, a consultant for Sen. Sheila Kuehl (D-Santa Monica), who wrote the original legislation three years ago to establish expanded screening.

“Once the budget crisis is resolved, we’ll be talking to the Department of Finance and the governor’s office about prioritizing this and getting the program back up and running,” Richards says.

In the meantime, parents expecting a baby can ask their obstetrician to arrange for tandem mass spectrometry testing, which costs $60, through one of several private labs.

“If David had been tested, he would be walking and talking,” Amparo Denney says. “He would be on a special diet to restrict protein. That’s not a biggie. But his damage is.”