Newborn screening began in 1962, with testing to identify infants with phenylketonuria (PKU). It has since been expanded to include many different endocrinological, metabolic and hematologic disorders, which test over 4 million babies in the United States each year. This testing helps to identify about 3,000 babies with serious diseases each year, so that they can be treated early, usually before symptoms develop.
Prior to being sent home from the nursery, newborns have blood drawn (usually by a heel stick) and the specimen is placed on a special filter paper, which can then be sent to a centralized lab for testing. A repeat or second newborn screen is usually performed at a later time, often at the two week checkup, especially if the first test was done in the baby's first twenty-four hours of life. Some states, including Texas, mandate by law that two screens be done.
The purpose of the newborn screen is to test or examine for the presence of a disease before symptoms develop (although some children may develop symptoms before the results are known) and to help identify those infants that at most at risk for developing the particular disease. Unfortunately, normal children sometimes have an abnormal newborn screen. These children are then retested or other more comprehensive tests are done to identify those children who really have the illness. It is important to keep this in mind if you are told that your child has an abnormal newborn screen, since he may not have the illness. A positive test always has to be confirmed before a child is diagnosed with a disorder.
It depends on which state you live in as to which diseases your newborn will be screened for. In all states, at least phenylketonuria (PKU) and congenital adrenal hyperplasia (CAH) are screened for, and most also test for galactosemia (except LA, Pennsylvania, and Washington) and Sickle Cell Disease (except Idaho, North Dakota, South Dakota, Utah). Other states also include testing for Maple Syrup Urine Disease (21 states), Homocystinuria (14 states), Biotinidase Deficiency (22 states), Toxoplasmosis (New Hampshire and Massachusetts), Cystic Fibrosis (6 states), Tyrosinemia (Georgia), HIV (New York), MCAD (Massachusetts, Maine, North Carolina, Wisconsin), G6PD (Washington DC), and/or universal hearing screening (27 states).
In Texas, newborns are screened for phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), hypothyroidism, galactosemia and their hemoglobin type is determined to identify children with sickle cell disease.
According to a recent March of Dimes report, only 21 states test for their 9 minimum disorders, including phenylketonuria (PKU); congenital hypothyroidism; congenital adrenal hyperplasia (CAH); biotinidase deficiency; maple syrup urine disease; galactosemia; homocystinuria; sickle cell anemia; and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
That means that if your child is born with biotinidase deficiency, but happens to be born in a state that doesn't screen for it (like California or Texas), then he will likely develop seizues and mental retardation. On the other hand, if he was born in a state that does screening for biotinidase deficiency (like Oregon or New Mexico), then those complications could be prevented if he was identified and simply given extra biotin.
I was called and told that my baby's test needs to be repeated. Does that mean that my baby has a disorder?
Often times not. Reasons that your newborn screen may need to be repeated include:
- Unsatisfactory specimen: There was a problem with the sample, so that the test could not be run.
- Abnormal Test Result: This means that the test result was out of the normal range, but it still does not mean that your child has the disorder, it only means that further testing needs to be done. Unless your child is having symptoms, such as persistent vomiting, poor weight gain, lethargy, etc., then it is best to just repeat the test, as it is often normal on the repeat newborn screen.
Also, many nurses and doctors inappropriately state that the 'PKU was abnormal,' when they really mean that some other part of the newborn screen was abnormal. Many people inappropriately say use the acronym 'PKU' as a generic term for newborn screen.
In addition to having the regular newborn screening tests, some parents are choosing to also have Supplemental Newborn Screening. These additional tests are provided through Institute of Metabolic Disease lab at Baylor University Medical Center in Texas and include testing for over 29 rare metabolic disorders which are not routinely tested for by the state screens (plus it also tests for PKU which is routinely included in all state screens). Pediatrix and some other laboratories also provides this service (see the links below).
|Supplemental Newborn Screening tests include testing for over 29 rare metabolic disorders which are not routinely tested for by the state screens.
Does your child need supplemental testing?
The metabolic disorders that are tested for are very rare, for example, while hypothyroidism occurs in 1 in 5,000 newborns and CAH occurs in 1 in 12,000 newborns, some of the disorders tested for by the supplemental screen, such as methylmalonic acidemia, propionic acidemia, and isovaleric acidemia, only occur in 1 out of every 50,000 newborns (but this compares to 1 in 60,000 for galactosemia which is in most state screening programs).
The important thing to keep in mind, is that while these disorders are very rare and they do not have cures, early treatment (usually with restrictive or alternative diets) can prevent the serious effects that they have on children (which can include mental retardation or even death).
If you are interested in supplemental screening, you can visit the Baylor Newborn Supplemental Screening web site, or call them at 1-800-422-9567 and request a kit that you can give to your doctor to complete. This can usually be done in the hospital at the time of the regular screen.
You can also get supplemental newborn screening done through Pediatrix, Mayo Medical Laboratories, and the University of Colorado Health Sciences Center Biochemical Genetics Laboratory.
Why don't all states use all of the newborn screening tests that are available, including the supplemental tests?
You should contact and lobby your local and state government officials if you would like your state to include more newborn screen testing for its babies. With time, hopefully the most important newborn screen testing, including universal hearing screens will be available for all newborns.
You might also participate in a letter writing campaign to raise awareness and get more states to do testing.
Some states, including Massachusetts, are already including optional expanded supplemental screening (for 20 disorders) as part of a pilot research study.
- Baylor Newborn Supplemental Screening: web site for the Baylor University Medical Center newborn screening program.
- Pediatrix Screening: another service for performing supplemental newborn screening. With links to news articles from CBS News and US News & World report.
- Save Babies Through Newborn Screening: "a non-profit voluntary organization whose mission is to improve the lives of babies by preventing mental retardation and death resulting from disorders detectable through newborn screening. A greater understanding and awareness of these tests and disorders will help to prevent unnecessary complications since most can be effectively treated when caught early." Includes comprehensive info and links to other sites that describe the illnesses included in most newborn screen programs.