Newborn Screening: Frequently Asked Questions

(Note: Text for this page has been compiled and provided by Dr. Richard Erbe, Chief of Genetics at Women’s and Children’s Hospital, and Dr. Patricia Duffner, Neurologist, and Clinical Director of the Hunter James Kelly Research Institute.)

Q.     Why is New York State performing newborn screening?

A.      Newborn screening allows your doctor to diagnose certain conditions before symptoms appear.  If diagnosis is delayed until the baby is symptomatic, irreversible damage may occur.

 

Q.      Does a positive newborn screening test mean my baby definitely has the disease?

A.      No.  Screening tests are not diagnostic.  In order to not miss any affected children, far more children are “screen positive” than actually have the disease.  Additional tests are necessary to confirm whether or not your baby has the disease.

 

Q.      Will my baby be given treatment on his/her first visit with the specialist?

A.      In most cases, no treatment will be given until the results are confirmed with either blood or other diagnostic tests.  For example, children who “screen positive" for cystic fibrosis will have a sweat test performed.  For a few other diseases, such as maple syrup urine disease, urea cycle disorders, and galactosemia, treatment is given before the confirmatory test results are back in order to prevent damage to the baby.

 

Q.      Are my other and future children at risk for this disease?

A.      Many, but not all, of the diseases identified on newborn screening are inherited.  Questions about your baby’s specific condition should be addressed to your baby’s specialist.

 

Q.      My baby was diagnosed with Krabbe disease.  Why is my doctor recommending other tests?

A.      Although most children with Krabbe disease have the severe, infantile form (which may require bone marrow/umbilical cord blood transplantation), others may have a milder form that will not cause symptoms for several years.  Unfortunately, while the blood test tells your doctor that your baby has the disease, it cannot provide any information regarding the severity of the disease.  Therefore, the Center for Krabbe Disease (the clinical arm of the Hunter James Kelly Research Institute in Buffalo), along with child neurologists and inherited metabolic disease experts around New York State have developed a schedule of neurologic examinations and neurodiagnostic tests to help decide if your baby has the severe form of Krabbe disease and should be considered for bone marrow/umbilical cord blood transplantation.  Since symptoms may begin at various times (especially during the first year of life), repeated testing may be necessary.  Transplantation is only effective if the child has either no or very limited symptoms.
        
With your permission, copies of your child’s records will be collected and sent to the Center for Krabbe Disease where they will be securely stored.  After all identifying characteristics (with the exception of child’s birth date) have been removed, the data will be entered into a clinical database/registry.  This data will be reviewed every six months by your doctor, other participating child neurologists, and inherited metabolic disease experts to determine which tests provide the best predictive information regarding prognosis.  Those tests that are not found to be helpful will be eliminated.

 

Q.      Tell me about bone marrow/umbilical cord blood transplantation for Krabbe disease.

A.      Bone marrow transplantation (BMT), using umbilical cord blood, is currently the only available treatment for Krabbe disease.  Duke University in North Carolina has had the most experience using this technique in newborns with Krabbe disease.  Columbia University in New York City also accepts newborns.  There are currently no sites in Buffalo where BMT for infants is performed.

BMT involves a hospitalization period of 1-2 months and requires close follow-up afterwards.  Because children undergoing BMT receive high doses of chemotherapy, they are at risk for bacterial, viral, and fungal infections.  They are also at high risk for Graft Versus Host disease, which can cause serious problems with skin, liver, and gastrointestinal tract.  Some also develop bleeding problems. There is approximately a 5% mortality risk associated with the procedure.  Although transplanting a baby is a high-risk procedure, at this time it is the only therapy available to infants with Krabbe disease.