What is Newborn Screening?
Newborn screening is the process of testing newborn babies for potentially treatable genetic conditions. Left untreated, these conditions may negatively affect a baby's normal physical and mental development.
- In these genetic conditions, early diagnosis and proper treatment can make the difference between lifelong impairment and healthy development.
- Newborn screening is performed after the first 24 hours of life, but within the first 2 or 3 days by collecting a small sample of the baby's blood using a heal prick. This blood is applied to a filter paper and then sent to a lab designated by the hospital or state.
- Many of the conditions screened for are inherited metabolic conditions, which are disorders that interfere with the body's use of nutrients to produce energy and maintain healthy tissue function.
- Many states also require a newborn's hearing to be screened before they are discharged from the hospital. If not, it is important to have a newborn hearing test performed by their pediatrician.
Who Performs Newborn Screening?
Most states have their own mandatory newborn screening programs set up by their state health department. In some states, however, screening is not mandatory. Because the federal government has not set national standards, screening programs vary greatly from state to state. This means that states routinely screen from 4 to upwards of 30 conditions.
State health programs are often required to make a number of considerations when deciding on which conditions to screen for. Some common considerations may include:
- Does the condition have a high enough frequency in the population?
- Can the state budget afford screening?
- Is the screening reliable?
- Can delaying diagnosis for a condition result in irreparable damage, such as physical or mental impairment?
- Is there an available, proven treatment(s) that can improve health?
- Is this condition often missed (or not apparent) at birth?
Expanded newborn screening uses a technique called tandem mass spectrometry (or MS/MS), which is capable of screening for more than 20 inherited metabolic conditions at one time. Expanded newborn screening is currently available in about 25 states, and there is debate over whether national standards should be made to ensure that all states offer expanded newborn screening or at minimum all screen for the same conditions.
More information about which conditions are being screened in each state can be found at: National Newborn Screening & Genetics Resource Center.
Newborn Screening Results
Different labs have different procedures for notifying families or doctors of screening results or if a retest is necessary.
- Some labs send them to the hospital where the child was born (this may delay the notification).
- Some labs send them directly to the child's doctor by mail.
- Some labs/states have a system that allows doctors to access them by phone or via the internet.
- If a test result should come back abnormal, this does not necessarily mean the child is affected with a genetic condition. Additional follow-up with the child's doctor and perhaps a genetic consultation may be recommended to discuss if additional testing or treatment is necessary.
Reasons to Consider a Genetic Consultation
Here are some reasons beyond an abnormal newborn screening result that a family or doctor may want to consider a genetic consultation:
- If there is a positive family history of an inherited condition.
- If there has been a previous birth of a child who passed away from a known or suspected inherited condition in the family..
- If there is reason to believe that a child may be at risk for a specific condition
What is Supplemental Newborn Screening?
If expanded newborn screening is not available in the hospital or state, supplemental newborn screening may be a consideration.
Supplemental newborn screening often screens for more than 30 metabolic conditions and is available anywhere in the United States. The labs send out kits that are used to collect an additional blood sample by the hospital or physician at the same time as the baby's regular newborn screening. The sample is then mailed back for analysis. The cost of supplemental screening can range from about $25 to $200 dollars.
Supplemental newborn screening is available online (over the internet). Go to the Tests tab to link to the best providers, compare providers and read provider reviews.