Fifty years ago, Massachusetts became the first state in the nation to require the routine screening of all newborns for PKU. (Phenylketonuria is an inherited condition affecting the body’s ability to properly metabolize protein, leading to brain damage in young children.) Today, every state mandates newborn screening of just a few drops of blood for over 30 rare pediatric disorders, including neonatal hypothyroidism, cystic fibrosis, and maple syrup urine disease. In addition to blood on a filter paper, other critical screenings occur while babies are still in the hospital nursery, including tests that detect congenital hearing loss and critical congenital heart disease. Add to that all the sophisticated prenatal tests that are available to expectant parents, there is little room for surprises in the delivery room and beyond! The ability to have a heads-up on these beginning-of-life diseases is one of the miracles of modern medicine, allowing children to survive these disorders with normal, or near-normal, lives. Jane E. Brody has a great example:
Giana Swift, a fifth grader in Sherman Oaks, Calif., was one of more than 12,500 babies who benefit from newborn screening each year. The story of her birth in October 2002 was recounted in The Times. Through a pilot screening program, Giana was found to have an inherited metabolic disorder called 3-MCC (3-methylcrotonyl-CoA carboxylase deficiency). It afflicts about 100 babies a year, rendering them unable to process the amino acid leucine. As with PKU, toxic byproducts of the unprocessed amino acid build up in the blood and damage the brain.
Because she was tested at birth, Giana thrived, first on a special leucine-free baby formula, then on a diet nearly free of protein. Her grateful father, David Swift, 44, recently described Giana as “very bright, precocious, happy and a top athlete.”
“That test and the nurse who talked me into having it done saved my daughter’s life,” he told me.
Now these tests are the law. Newborn screening is not cheap, but it is economical in the long run, with lives saved and chronic medical, educational, and living services avoided: truly a win-win for all!