What is newborn screening?
Newborn screening is a special test your baby receives after birth to protect your baby's health. State law requires all babies born in Pennsylvania to be screened for six inherited genetic disorders, even if your baby is born at home. Parents are encouraged to have their newborn screened for additional disorders at the same time. The additional screening tests are commonly referred to as supplemental screening. All screening laboratories in PA are required to report the screen test results of 23 additional disorders to the Department for follow-up. A baby born with a serious medical or genetic disorder may appear to be healthy at birth. By screening, these disorders are detected early and treated. Problems due to these disorders are often prevented.
What inherited genetic disorders is my baby screened for in Pennsylvania?
Your baby must be screened for the following inherited genetic disorders:
- Congenital adrenal hyperplasia (CAH);
- Congenital hypothyroidism (CH);
- Galactosemia (GAL);
- Maple syrup urine disease (MSUD);
- Phenylketonuria (PKU);
- Glycogen Storage Disease Type II (Pompe Disease) (GAA); and
- Sickle Cell Disease and other Hemoglobinopathies (HGB).
The results of these screenings are reported to the Department of Health as well as to the newborn's physician identified by the parents on the filter paper. It is therefore very important that you provide the current contact information for yourself and for the newborn's primary care provider who will care for your baby after birth.
Parents may choose to have their newborn screened for additional disorders at the same time. This screening panel is commonly referred to as supplemental screening. Pennsylvania legislation requires the screening results for 23 of the supplemental disorders to be reported to the Department of Health.
What is supplemental newborn screening?
Each hospital or birth facility may screen for 50 or more additional disorders called supplemental screening. If you have questions about supplemental screening, ask your health care provider or prenatal instructor which supplemental screens are available at the birth facility where your baby will be born. Most of the newborn screening disorders are rare, but their presence may lead to mental retardation, serious health problems and even death if not promptly diagnosed and treated.
Is there a fee for my baby to have a newborn screen done?
Pennsylvania does not charge for your baby to be screened for the six inherited genetic disorders. The cost for supplemental screening may be covered by your insurance carrier. The new law does not change how payment is made for the supplemental disorders. The same blood sample taken for the inherited genetic disorders are used for the supplemental screening test - no additional blood is needed.
How is my baby screened?
Before you and your baby leave the hospital or birth facility, a nurse or technician will prick your baby's heel. Small drops of blood will be placed on a special filter paper. This is usually done when your baby is 24 to 48 hours of age. The filter paper is then sent to a laboratory to be tested. The results of the screen test are reported to all parties listed on the filter paper, including the hospital or birth facility where your baby was born, your baby's primary care provider you identified, and to the Department of Health.
How can I find out the results of my baby's newborn screen?
Your baby's health care provider should be able to give you the results. The results are usually available in seven to 10 days after your baby is born. It is important that you give the birthing facility the correct name of the health care provider who will care for your baby after birth. This information is placed on the filter paper. This allows your baby's health care provider to be contacted quickly if further testing is needed. It is also important as a parent to give your correct address and phone number so you may be contacted.
Why would the screening need to be repeated?
The screen will need to be repeated if it was taken before your baby was 24 hours of age or if the first specimen results were unclear. If you are contacted about the need to return to the hospital or birth facility for another screening, please do so right away. This does not necessarily mean your baby has a genetic disorder.
What happens if my baby's filter paper is abnormal?
When your baby's newborn screening results are abnormal, your baby's health care provider will contact you and talk to you about the results. An abnormal result does not confirm that your baby has a disease. Your baby's health care provider will talk to you about the next steps to take. You may need to take your baby to a specialist for more specific testing. Follow the health care provider's instructions right away. The earlier these conditions are diagnosed, the earlier treatment can be started. Early treatment gives your baby the best chance at a healthy life.
If my child has one of the screened disorders is there a cure?
There is no cure for
these disorders but there is treatment. Treatment varies by disorder
and may include medication, special diets or a special formula. If
the disorder is identified early, your baby may lead a healthy life
with the help of these treatments. If you need more information about a
specific disorder, visit this link to the Pennsylvania Department of
Screening and Follow-Up Brochure or visit
our Links to Newborn
Screening and Genetics page to find a variety of
additional information and resources that may be helpful to you.
Where can I get more information?
If you have questions about your baby's newborn screening results, contact your baby's health care provider or visit the Links to Newborn Screening and Genetics page for additional website information and for phone numbers for various Commonwealth services.
Fact sheets about disorders commonly screened for by expanded newborn screening