The baby in Arkansas seems healthy at birth, but Aiden Cooper can’t keep down formula.
Don’t worry, he’s fine, doctors assure his mother as they leave the hospital. You’re just a first-time mom.
Aiden goes home, but soon his stomach becomes swollen, bulging with veins. He breaks out in a rash. He is limp, pale, won’t eat.
In North Carolina, a baby is born with chubby cheeks and the same button-nose as his big brother. At 11 days old, Garrett Saine turns gray, stops breathing, then turns blue.
Blood pours from the nose and mouth of a newborn boy in Wisconsin. A baby girl in Indiana has seizures, then quits breathing.
In each instance, doctors frantically try to figure out why the baby is so sick. Routine blood samples taken shortly after birth have the answers. But the samples haven’t been tested.
They should have been sent to a lab within 24 hours to be screened for disorders that can often be treated if caught early. But they weren’t. Instead, samples sit at hospitals for a few days. A week. Some samples are lost.
Nearly every baby born in the United States has blood collected within a day or two of birth to be screened for dozens of genetic disorders. The entire premise of newborn screening is to detect disorders quickly so babies can be treated early, averting death and preventing or limiting brain damage, disability and a lifetime of costly medical care.
Yet one of newborn screening’s most important metrics – speed – is ignored for tens of thousands of babies’ tests each year, a Milwaukee Journal Sentinel analysis of nearly 3 million screening tests shows.
Lab results delayed for babies born later in week
In Arkansas, it took 3 1/2 weeks for Aiden’s blood sample to be tested. Infection raged through his tiny body as he lay in neonatal intensive care in Little Rock. Eventually a doctor got Aiden’s test results: abnormal.
The test revealed Aiden has galactosemia, a treatable disorder that prevented his body from digesting sugar in breast milk and formula. So every time he ate, he was being poisoned. Doctors eventually switched him to soy formula and he improved, but damage was done. Now almost 3 years old, Aiden doesn’t say more than two or three words at once. He walks unsteadily and has a hard time feeding himself because of developmental delays.
“Every day is like a new battle for us,” said his mother, Shauna Cooper.
Last year, at least 160,000 blood samples from newborn babies arrived late at labs across the country, according to the newspaper’s analysis of screening tests from 31 states, including Washington and Idaho. The Journal Sentinel also compiled information about newborn screening programs in every state and the District of Columbia. Among the findings:
• Labs in half the country are closed on weekends and holidays, meaning babies born later in the week could have their results delayed two or three days, postponing diagnosis and increasing harm to affected children. In February, Garrett Saine stopped breathing three times on a Sunday while his positive test results sat inside the closed North Carolina state lab. A baby born on a Friday in Colorado died the day before his newborn screening results alerted doctors to a treatable condition.
• In nearly three-quarters of the country, hospitals are supposed to send samples using overnight delivery or courier services. Yet it still takes days for hundreds of thousands of samples to arrive at labs for testing. At one hospital in Phoenix, 70 percent of samples took five or more days to get to the state lab just 7 miles away. Some hospitals still send blood samples through the U.S. Postal Service’s regular mail. It saves them money.
• Many hospitals ignore regulations that require them to quickly send babies’ blood samples to labs, and suffer no consequences when they’re late. Last year in New York, only 60 percent of samples arrived at the state lab within 48 hours of collection – the time period required by state law.
Standardization discussed for years
For nearly 15 years, federal regulators and public health officials have discussed the need to standardize newborn screening systems throughout the country, but little action has been taken beyond increasing the number of conditions tested. Most state-run programs do not follow guidelines issued in 2005. As a result, programs vary so widely that a baby born with a disorder in one state can have a worse outlook than if born in the state next door. Some labs don’t even track how quickly hospitals send samples.
Lab administrators and public health officials in dozens of states have fought to keep the track records of hospitals hidden. Expectant parents have no way of knowing if the hospital where their baby will be born delays sending blood samples for these lifesaving tests.
The Journal Sentinel requested newborn screening data from every U.S. state and the District of Columbia. Twenty-four states and Washington, D.C., would not release information identifying hospital names. Many cited patient privacy, even though children’s names and outcomes of tests were not requested. Other states said releasing such information would be adversarial to hospitals or might reveal their business practices.
Twenty-six states, including those with the highest number of births – California, Texas and New York – released newborn screening data with hospital names. Five others released statewide totals only. The data show for the first time that there are dangerous and deadly delays in a celebrated public health program designed to save babies’ lives.
Edward McCabe, who has been involved with newborn screening since the 1970s, called the delays “ridiculous” for a program that has been refined and developed for decades.
“If we set up a system and undermine its effectiveness, why have we invested so much in the system?” said McCabe, a pediatrician and geneticist who is now chief medical officer for the national March of Dimes. “What the hospitals and people in the nursery are doing is looking at what is convenient for them.
“They think they are saving a few dollars in their budget, but they are putting babies’ lives at risk.”
Many hospitals across the country do send most of their newborn blood samples quickly for testing. Those that don’t blame delays on a variety of factors: New staffers don’t know the protocol; mail or delivery services are delayed; cost-cutting, holidays and vacations reduce the number of workers so samples aren’t sent as frequently.
At some hospitals, staff told the Journal Sentinel that they consider it more efficient to “batch” samples, or send them in bunches periodically instead of each day. This can save the hospitals money on shipping, but it defies adamant warnings from health officials that babies can die or suffer permanent disability from delays in treatment caused by batching. Often, delivery costs are covered by the states or by insurance. The hospitals batch anyway.
Several hospitals with particularly bad records admitted batching their newborn screening samples. When contacted about their hospital’s poor performance, officials told the Journal Sentinel they would change their practices – or said they had just recently recognized the problem themselves.
Newborn screening required by law in all states
Developed 50 years ago, newborn screening is considered a major public health success, identifying disorders in time to improve or save the lives of more than 12,000 newborns in the United States each year.
About one in every 800 babies is born with a potentially severe or deadly condition that can be treated and managed if the child is properly tested. These babies often appear healthy at birth but can become extremely sick within days.
While the disorders are rare, diagnosing a single child early not only can preserve or dramatically improve the life of that infant and his family, but can also prevent millions of dollars in medical bills, follow-up care and lifelong assistance. Babies are screened for as many as 56 conditions or as few as 28, depending on the state.
Newborn screening is required by law in every state. Parents can refuse tests for religious reasons, but nearly 98 percent of the nation’s newborns are tested.
The protocol is straightforward: A baby’s heel is pricked 24 to 48 hours after birth. A few spots of blood are collected in small circles on a filter paper card. The card is to be sent within 24 hours to a lab for testing and should arrive at the lab within three days after the sample is collected, according to 2005 recommendations from a newborn screening committee created by the U.S. Department of Health and Human Services.
Iowa and Delaware were the only states that met that turnaround time for 99 percent of blood samples last year, the Journal Sentinel analysis found.
Throughout the country, tens of thousands of samples in dozens of states – from Arizona to New York, Missouri to Texas – arrive at testing labs five or more days after they’re collected. For the 25 programs that refused to release data, there is no way for prospective parents to know how well their hospitals or labs perform at newborn screening.
The Journal Sentinel used five or more days as a metric for lateness in most states, as that period is considered unacceptable by many lab directors. It is impossible to tell how many children have died or have been negatively affected by late samples because test results are confidential. Although some children diagnosed early may still face health problems, experts agree that early treatment can dramatically improve the outcome of their conditions.
“Any time you have a condition that you know can produce ill effects, you want it to be diagnosed as soon as possible,” said R. Rodney Howell, a professor of pediatrics at the University of Miami’s medical school and chairman of the group that established newborn screening guidelines for the U.S. Department of Health and Human Services in 2005.