Newborn screenings seeks inherited diseases
If you’ve delivered a baby in Washington state or have been around a newborn, you may recall the baby’s feet being poked for a blood sample shortly after birth. The blood sample is taken for a screening test to detect inherited diseases (also called genetic). In our state, newborns are screened for 29 different treatable, inherited conditions. Many of these conditions do not cause any symptoms initially and babies appear perfectly healthy. However, by the time any symptoms happen, the condition can be more difficult to treat and risk of serious complications like brain damage, organ damage and death increases.
Sickle cell disease is one of these conditions, as I discussed in my last column. Others include phenylketonuria (1 in 10,000 babies will have this condition), hypothyroidism (1 in 4,000) and classic galactosemia (1 in 60,000). You can find complete lists of the screening tests done in Washington and the other 49 states at the Baby’s First Test website, http://www.babysfirsttest.org/. (Idaho tests for 46 different conditions.)
If results from any of the screening tests are abnormal, more tests are done to confirm the result. If the abnormal result is confirmed, treatment needs to begin as soon as possible under the guidance of your baby’s physician. Treatments, designed to prevent or lessen the harmful effects of these conditions, may include a special diet, medication, or specific monitoring.
For example, a baby with phenylketonuria (PKU) needs to go on a special diet that is low in this amino acid. Babies with this condition cannot break down phenylalanine and high levels will develop in their bodies if they consume it. High levels can, over time, cause brain damage. In hypothyroidism, the thyroid gland does not make enough thyroid hormone, which is crucial for metabolism, growth and development. Babies with this condition are prescribed a daily thyroid hormone to maintain normal growth and brain development.
Many of these conditions require lifetime management and regular follow up to prevent complications. Parents need special education about how to manage their child’s diet or medications, special vaccinations may be needed, and other follow up with specialists can be necessary. Early diagnosis is crucial to help this to happen.
Cost for newborn screening in Washington is about $70 and this fee includes a small portion of the money going to support special clinics providing services for children who have one of the conditions for which screening is done. Insurance usually covers this cost.
Screening for these conditions is routine at most hospitals. But if your baby was not born in a hospital or was not screened, you should take him or her to a hospital or health clinic for screening within a few days of birth. It usually takes 5 to 7 days to get the results. Because some conditions cannot be tested for accurately immediately after birth, a second screening between 7- and 14-days-old (at a well child visit for example) is recommended by the Washington State Board of Health.
Screening of babies for inherited conditions is an important step we take to insure the health of babies born in our state. Prevention means early detection and diagnosis as well as support for the family once a diagnosis is made.