When a baby is born, parents naturally want to ensure their child is healthy and thriving. One of the most important tools for safeguarding newborn health is the newborn blood test screening panel—a routine test that can detect serious medical conditions early in life, often before symptoms appear.
There are a number of potentially devastating diseases that can be present in newborn babies but hidden at the time of birth. One example of such an illness is Krabbe Disease.
What is a Newborn Blood Test Screening Panel?
Newborn blood test screenings—also known as heel-prick tests or newborn blood spot tests—are simple blood tests performed within the first 24 to 48 hours of a baby’s life. A small blood sample is collected from the infant’s heel and put onto a filter paper to create several “dried blood spots.” Next, the newborn screening card is sent to the state laboratory for analysis. Most states screen for the majority of conditions included on the Recommended Uniform Screening Panel (RUSP) which include many rare but serious disorders.
These diseases that are tested vary by state or country but typically include tests for:
- Metabolic disorders (e.g., phenylketonuria or PKU)
- Endocrine disorders (e.g., congenital hypothyroidism)
- Blood disorders (e.g., sickle cell disease)
- Genetic conditions (e.g., Krabbe Disease)
We maintain a list of states that include Krabbe Disease screening in their newborn screening panels, as well as states where there are active efforts to start including Krabbe Disease in testing panels.
Why is Early Diagnosis Through Newborn Screening So Important?
Many of the conditions screened for in newborn panels are not apparent at birth. Left untreated, these disorders can lead to irreversible health problems such as developmental delays, organ damage, or even life-threatening complications. In the case of Krabbe Disease, treatment options may not be available once symptoms appear, so early diagnosis and intervention through newborn screening can help significantly improving the child’s quality of life and chances of survival.
What Should Parents Know About Newborn Blood Test Screening Panels?
Every state in the U.S. has a newborn blood test screening program that screens newborns for many serious diseases. These screenings are one of the most powerful tools in modern medicine for preventing severe illness and lifelong complications. Although every state has a screening panel, not all states screen for the same diseases.
Newborn screenings are routine, safe and accurate. A very small amount of blood is taken from the baby’s heel through a minimally invasive prick. In general, testing is done quickly and parents can expect to receive results within a few days if results are normal.
What Happens if a Newborn Screening Test Result is Abnormal?
If any results from a newborn screening come back as abnormal, parents should speak to their pediatrician. Many diseases require additional diagnostic exams or tests to verify a diagnosis. Once diagnosed, parents can work with their pediatrician to create a treatment plans and formulate next steps.
How is Krabbe Disease Screened in Newborn Babies?
States that screen for Krabbe disease do so by measuring the activity of galactocerebrosidase (also known as galactosylceramideA galactolipid that is an important component of the normal turnover of myelin in nerve fibers. When there is an enzyme deficiency, excess galactosylceramide and psychosine (both galactolipids) store beta-galactosidase and GALCA specific enzyme that receives its instructions from the GALC gene. When the GALC gene isn’t working properly, the enzyme, galactocerebrosidase, is unable to break down certain fats called galactol More) in the dried blood spots collected from the newborn screening. All Krabbe patients have very low GALC activity. When the GALC activity level is below the norm, screening laboratories perform additional tests on the dried blood spot samples to assess the patient’s risk of developing Krabbe disease. Most newborns who have an initial GALC activity value below the newborn screening cutoff will not develop Krabbe disease, but state laboratories institute cutoffs with the initial screening at a relatively high value to minimize the risk of missing a baby with Krabbe disease.
Not All States Screen for Krabbe Disease. Does Yours?
