Doctors’ Notes
BackPA Newborn Blood Screening
The Newborn Screening is a blood test, required by law in Pennsylvania, that babies receive after being born. This test helps make sure babies stay healthy by testing for six inherited genetic disorders. There is also a supplemental screening that screens for 23 other disorders.
Many babies born with these conditions and genetic disorders seem healthy when they’re born. These tests detect any problems early so that they can be treated and at times prevent very serious problems related to these disorders.
WHAT THEY’RE SCREENING FOR
The inherited genetic disorders screened for in the Pennsylvania test are:
CAH- Congenital Adrenal Hyperplasia
Babies have a defect in an enzyme the body needs, and this can cause dehydration, shock, or death within days of birth if not identified and treated.
CH- Congenital Hypothyroidism
Babies do not have a thyroid hormone. They seem healthy at birth, but over time the lack of the hormone can cause slow growth and mental retardation.
GAL- Galactosemia
Babies cannot digest galactose, a simple sugar in breast milk, most formulas, and milk products. It can cause eye, liver, and brain damage.
MSUD- Maple Syrup Urine Disease
Babies cannot digest part of a food protein, which can cause them to suffer severe mental retardation and even death.
PKU- Phenylketonuria
Babies cannot digest a different part of food protein, which can lead to nerve and brain cell damage.
HGB- Sickle Cell Disease and other Hemoglobinopathies
Babies have abnormalities in the blood that can cause problems with circulation and low iron in the blood.
THE SCREENING PROCESS
Prior to leaving the hospital after birth, your baby, usually when she is 24-48 hours old, will have blood taken from a prick on the heel. Several small drops of blood are needed for the test. The blood is placed on a special paper called filter paper. The special paper is then sent to a laboratory to be tested. Again, the results are reported to your health care provider, the hospital, and the state Department of Health. No additional blood is needed to test for the supplemental screening. PA law does not allow a baby’s blood filter paper for research without your signed permission.
RE-TESTING
If the test needs to be repeated, it does not mean one of the diseases is or may be present. The test may need to be repeated if it was completed before the baby is 24 hours old, or if the blood sample is too small. If you’re contacted to have the test completed again, it’s important to get it completed in a timely manner. To get the re-test, you return to the hospital where your baby was born.
SCREENING RESULTS
The results of the screening, which typically take 7-10 days, are reported to the Department of Health, your doctor, and the hospital where your baby was born. Most of these newborn screening disorders are (thankfully) rare, but they may cause mental retardation, serious health problems and even death if not diagnosed and treated in a timely manner, so the screening is very important. There is no charge for babies to be screened for the six genetic disorders. The cost of the supplemental screening may be covered by insurance.
If there are any concerns with the blood work results, parents are contacted directly.
If other testing is recommended or needed, your baby’s doctor will discuss what the next steps will be. You may need to take your baby to a specialist for additional testing. The earlier a problem is identified and diagnosed, the earlier treatment can be initiated. This early treatment gives the babies the best chance at having a healthy life.
There is unfortunately no cure for these disorders, but there are treatments. These treatments differ with each disorder and may include special medications, specials foods/formulas, and other treatments. Early treatment and identification can help ensure the healthiest life for a baby with any of these identified conditions.
Jonette McClelland, a Certified Registered Nurse Practitioner, joined Kids Plus in 2012.