Early Newborn Screening Saves Their Lives

By Margarita Nahapetyan

A March of Dimes report released on February 18, 2009 says that from now on all the 50 states and The District of Columbia will require hospitals to screen newborns for a range of life-threatening diseases and medical conditions. These metabolic disorders, more than two dozen in all, are causing disability, mental retardation or even fatal outcomes if not addressed shortly after the baby is born. But if early detected and treated promptly, children with these conditions can be cured and, therefore have normal and healthy lives.

The new regulations put an end to the days when every state had its own individual laws and policies according to which the babies were screened for only certain medical conditions. As recently as 2008, twenty three states and the District of Columbia were screening newborns for 29 core conditions. Another 25 states tested them for 21 or more conditions, while Pennsylvania was the only state which performed screenings for less than 10 conditions.

"It is a milestone," said Jennifer L. Howse, PhD., president of the March of Dimes, which advocated for expanded testing. Screening rates in newborns rose from 38 per cent in 2005, when the organization began its monitoring, to 96 per cent by the end of 2008, she explained. "That is very, very dramatic."

Newborn screening is done by testing of a few drops of blood, usually from a newborn's heel, before discharge from hospital. A positive result does not necessarily mean that the baby has a disorder. If a screening result is positive, the infant is referred for additional testing, and in case of the diagnosis being confirmed the newborn is assigned for treatment as soon as possible.

"Today we announce that expanded screening is required by the states for nearly 100 percent of the more than 4 million babies born each year in the U.S. The clear beneficiaries are babies and their families," said Jennifer L. Howse. "With the help of volunteers, parents and our partners, we have nearly erased the cruel injustice that sentenced babies to an undetected but treatable metabolic or functional condition based on their birth state. This is a success story."

The first such test that was made available was for phenylketonuria (PKU), a potentially devastating illness in which the body cannot process part of a protein called phenylalanine. The disorder strikes about one in every 25,000 babies born in the United States, according to the March of Dimes. If left untreated, phenylalanine will accumulate in the body and is more likely to cause serious brain damage and mental retardation. Soon after the birth a baby must be fed a special diet in order to prevent brain damage, and follow it till the rest of his life.

Other disorders tested include maple syrup urine disease, named so for the child's sweet-smelling urine, which strikes one out of 100,000 babies; congenital hypothyroidism, which affects an estimated one in 5,000 U.S. babies; sickle cell anemia, a blood disease that can cause severe pain, damage to the vital organs, stroke, and sometimes death in childhood, and which affects one in every 400 African-American babies. The March of Dimes also urged hospitals to perform screening for cystic fibrosis and hearing loss, each of which affect one in 5,000 babies.

"Hearing problems are a more frequent occurrence, and it is important to catch when children are newborns," Howse said.

Dr. Howse recommended that parents-to-be talk to their doctor to find out what screening tests are being done in the hospital and, if the testing does not cover all 29 conditions, that parents should arrange to have the additional tests done.

Screening for and revealing rare medical diseases and disorders can do more than just save lives of the children, they can also save states and the federal government billions of dollars in medical treatment.

A complete newborn screening that tests for all 29 conditions costs about $100, according to Howse, and is covered by most insurance companies. "What is more expensive is if the conditions are missed and kids need catastrophic care," she said. "And the human consequences are tragic."

Dr. Jerry Vockley, director of genetics at Children's Hospital of Pittsburgh, recollected one devastating case from the time when there were no screening procedures, in which a child with one of the diseases that is being tested now, ended up in an intensive care for a few months. Vockley said the cost for his treatment was between half a million and one million dollars.

"It does not take too many of those kids to win back the cost of the entire screening program," Vockley said. "It is very cost-effective."

Despite the fact that all these conditions are rare in general, screening and treating of just a single case can save every state thousands and thousands of dollars in special educational and healthcare services that will be needed for a child if left untreated. Not to mention what kind of joy and happiness the newborn screening brings to families.