Technology to screen newborns for about 30 serious genetic disorders is now widely available, yet whether your baby automatically receives many of these tests depends on where you live. "State health departments vary greatly on which tests they require, putting many babies at a disadvantage when it comes to detecting genetic diseases," says Edward McCabe, M.D., Ph.D., physician-in-chief at Mattel Children's Hospital at University of California, Los Angeles, and cofounder of the American Academy of Pediatrics section on Genetics and Birth Defects.
In fact, a recent congressional report found that the number of mandated tests ranges from a low of 4 in states such as Washington, Kansas, and California to more than 30 in Oregon and North Carolina. The March of Dimes recommends testing for at least 9 metabolic disorders that can cause serious health problems without treatment. Although the organization hopes for some form of universal screening throughout the country, the costs of testing each newborn may prevent that from happening anytime soon. Here's what you need to do to protect your baby's health:
* Know what your state provides. The most up-to-date way to find out which tests are required where you live is to contact your state health department (check the phone book for listings) or visit its website.
* Talk to your doctor. Before your baby is born, ask about the tests, the screening procedures, and the delivery of results and what they mean. Every state requires at least two tests, one for PKU, an enzyme deficiency treated by limiting certain things in your baby's diet, and the other for congenital hypothyroidism, treated by replacement of a thyroid hormone. If your state offers only a few tests, ask about the merits of paying to screen for other disorders when the newborn screen is done -- new technology called tandem mass spectrometry can test for up to 30 disorders with a single blood sample.
* Have your baby tested. All tests are done with a blood sample drawn from your baby's heel at 24 to 72 hours. If you're interested in tandem mass spectrometry and your state doesn't offer it, there are four private labs that will do the screening for a fee that ranges from $25 to $70. Order a testing kit well before your due date, and give it to the delivery nurse when you're in labor; the blood is drawn when the newborn screen is done and then mailed to the lab. (Your doctor may have an account with one of the labs, which can make it easier to get kits and results.) Log on to Save Babies (888-454-3383) for lab contact information.