The One Screening That Can Detect 56 Rare Disorders in Newborns

The One Screening That Can Detect 56 Rare Disorders in Newborns

From the moment you find out you're going to have a baby, you are filled with love, but also with a fierce protectiveness of your growing child. That protection is extended to your child at birth with newborn screening—a blood test that can detect potentially dangerous, yet treatable, health conditions.

A Little History of Newborn Screening

In 1963, Massachusetts became the first state to mandate that all newborns be tested for PKU, an inherited disorder that renders the body unable to process a key amino acid (phenylalanine). Fast forward to 2015, and New Jersey is one of the states leading the charge in the advancement of newborn screening.

Using just a few drops of a blood from a simple heel stick, all babies born in New Jersey are screened for a total of 56 rare, but dangerous, disorders. “The number of disorders we now screen for is much higher than when I first started practicing in 2008,” says Virtua pediatrician Eric Dorn, MD.

How Newborn Screening is Saving Lives

Dr. Dorn has seen firsthand how technological advancement in newborn screening has saved lives. “One of my newborn patients tested positive for congenital hypothyroidism, a condition where the thyroid doesn't make enough of the hormone necessary for normal growth and development of the body and brain. By day 4 of his life, he started taking the proper medication. Today, he’s followed by a team of Children's Hospital of Philadelphia (CHOP) pediatric endocrinologists and is doing quite well,” he says.

In the past, congenital hypothyroidism wouldn’t be noticed until symptoms appeared. Even if that happened just a few months after birth, a severe form of the disorder could have already caused failure to thrive and permanent developmental disabilities. “Not every diagnosis is going to be the worst case scenario,” he continues. “For example, I have an older patient who has congenital hypothyroidism and he’s a thriving college student. But he had a rough start in life because he didn’t receive the diagnosis until he had already experienced some difficulties. Had he been screened at birth, he would have had a much healthier childhood.”

Many of the rare conditions included in the current newborn screening panel are metabolic disorders. Babies with metabolic disorders can’t use nutrients in an optimal way to build healthy tissue and maintain energy levels. These disorders are potentially fatal, but usually don’t cause obvious symptoms at birth. Sickle cell disease and cystic fibrosis are among the most well-known metabolic disorders, but there are many others.

“Another one of my patients tested positive for MCAD (Medium-chain acyl-CoA dehydrogenase deficiency),” says Dr. Dorn. “Treatment involves feeding the baby more often than a typical newborn to keep blood sugar levels stable. Had we not known about the condition, and the baby had fasted for an extended period of time for any reason (like from excessive sleepiness that also occurs with this disorder), he could have become hypoglycemic.” Untreated hypoglycemia can have devastating secondary effects, such as seizures, permanent brain damage, or even death.

CHOP at Virtua Brings Pediatric Experts to South Jersey

Virtua is committed to remaining on the cutting-edge of newborn screening protocols, and Dr. Dorn expects many more diseases to be added to the panel in the coming months and years. What’s more, Virtua pediatricians like Dr. Dorn can take full advantage of Virtua’s partnership with Children’s Hospital of Philadelphia, where some of the most innovative research on rare childhood diseases and disorders is happening at breakneck pace. “When a newborn screen is positive for a disorder, the specialists at CHOP are a very helpful resource in working with families to quickly develop the best treatment plan,” says Dr. Dorn.

Updated August 28, 2017

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