The Connecticut Newborn Screening Program
Frequently Asked Questions
Q: What is newborn screening blood spot testing or “PKU testing”?
A: Newborn screening blood spot testing is the practice of testing every newborn for certain harmful or potentially fatal disorders that aren't otherwise apparent at birth (the baby may appear healthy). Some health care providers refer to blood spot screening as “PKU testing”. PKU (Phenylketonuria) was one of the first disorders detected by newborn screening, however it is only one of dozens of disorders that we can detect with routine newborn screening today. The term “PKU” testing is misleading when referring to newborn screening blood spot testing and should not be used.
The test is performed by pricking the baby’s heel to obtain several drops of blood. This blood is sent to the Connecticut State Laboratory where screening tests are performed. These tests often can tell whether newborns have certain conditions that eventually could cause problems. Although these conditions are rare, early diagnosis and proper treatment sometimes can make the difference between lifelong impairment and healthy development.
For more information on Newborn Screening please go to:
Q: Which disorders does the Connecticut Newborn Screening Program screen for?
A: The Connecticut Newborn Screening program screens for many types of disorders including Amino Acid Disorders, Fatty Acid Oxidation Disorders, Organic Acid Disorders, Endocrine Disorders, Peroxisomal Disorders, Hemoglobin Disorders, Hemoglobin Traits, Immune Disorders, Biotinidase Deficiency and Disorders of Galactose Metabolism. For a list of all disorders screened for in Connecticut click here.
Q: How does the Connecticut Newborn Screening Program decide what disorders to screen for?
A: The federal government, publishes national newborn screening recommendations, called the Recommended Uniform Screening Panel or RUSP. For a disorder to be added to the RUSP, certain criteria must be met:
The disease process must be well understood
There must be evidence-based treatment available for the disorder
Pilot studies must have been completed at the state level
There must be reliable screening and diagnostic tests available that can be used on a broad scale
These guidelines and other factors guide the decision to add a disorder to Connecticut’s Newborn Screening panel. Some of the other factors that influence the decision of whether or not to add a disorder to Connecticut’s Newborn Screening Panel include:
Are adequate resources available to conduct the testing and follow-up on results?
Is the technology available that would allow the program to screen for the disorder?
Is there adequate staffing in place to assure that all newborns are screened and that those with an abnormal result are promptly reported to the appropriate diagnostic/treatment center?
Are Connecticut’s diagnostic/treatment centers prepared to follow-up on these results?
Is there funding available to support the implementation of screening?
Has the Connecticut State Legislature approved the addition of the disorder to Connecticut’s Newborn Screening Panel?
Legislative approval is required to add a condition to the Newborn Screening panel in Connecticut.
Q: What does a positive or out of range result mean?
A: A positive result or out of range result is another way of saying that a result is abnormal. It is important to remember that an out-of-range screening result does not mean that your baby has a condition or that you baby is sick. In fact, most babies with out-of-range newborn screens are healthy and have follow-up test results within the normal range.
If your baby has an out of range result, the Connecticut Newborn Screening Program may contact your baby’s doctor and request that another heel stick specimen be collected for repeat newborn screening or we may report the result to a specialist on the disorder your baby screen positive for , who will work with your baby’s doctor to order follow-up testing.
For more information on out of range Newborn Screening results, please go to:
Q: How do I obtain my baby’s newborn screening results?
A: The quickest way to obtain your baby’s newborn screening results is to ask your baby’s doctor.