With a simple blood test, doctors often can tell whether newborns have certain conditions that eventually could cause problems. Although these conditions are considered rare and most babies are given a clean bill of health, early diagnosis and proper treatment can make the difference between lifelong impairment and healthy development.
Many of these are metabolic disorders (often called "inborn errors of metabolism") that interfere with the body's use of nutrients to maintain healthy tissues and produce energy. Other disorders that screening can detect include problems with hormones or the blood.
In general, metabolic and other inherited disorders can hinder an infant's normal physical and mental development in a variety of ways. And parents can pass along the gene for a certain disorder without even knowing that they're carriers.
Screening: Past, Present & Future
In the early 1960s, scientist Robert Guthrie, PhD, developed a blood test that could determine whether newborns had the metabolic disorder phenylketonuria (PKU). People with PKU lack an enzyme needed to process the amino acid phenylalanine, which is necessary for normal growth in kids and for normal protein use throughout life. However, if too much phenylalanine builds up, it damages brain tissue and eventually can cause substantial developmental delay.
If kids born with PKU are put on a special diet right away, they can avoid the developmental delay the condition caused in past generations and lead normal lives.
Since the development of the PKU test, researchers have developed additional blood tests that can screen newborns for other disorders that, unless detected and treated early, can cause physical problems, developmental delay, and in some cases, death.
The federal government has set no national standards, so screening requirements vary from state to state and are determined by individual state public health departments. Many states have mandatory newborn screening programs, but parents can refuse the testing for their infant if they choose.
Almost all states now screen for more than 30 disorders. One screening technique, the tandem mass spectrometry (or MS/MS), can screen for more than 20 inherited metabolic disorders with a single drop of blood.
Know Your Options
Because state programs are subject to change, you'll want to find up-to-date information about your state's (and individual hospital's) program. Talk to your doctor or contact your state's department of health for more information.