What is this service?
The Nova Scotia Newborn Screening Service at the IWK Health Centre offers testing for new babies to identify newborns with certain rare, serious disorders of body chemistry that are treatable. The vast majority of babies in Nova Scotia are healthy at birth. However, occasionally a baby is born with a disorder that may be dangerous to his/her health. Early diagnosis and treatment can result in normal growth and development. It can also prevent many of the medical problems associated with these disorders.
Who is tested?
All newborns within Nova Scotia. Most parents want to be informed and participate in decisions about what is important to their baby’s health, so they can be sure that their child receives the best medical care available. Testing newborns for these disorders is an important part of good healthcare.
How is my baby tested?
A few drops of blood are taken from your baby’s heel in the first two days of life, usually before he/she goes home from hospital. The blood is placed on a special type of absorbent paper and sent to the laboratory at the IWK Health Centre for testing.
How much will these tests cost?
These tests are free of charge.
Why should my baby be tested?
Babies with these disorders often appear perfectly normal at birth and are generally from healthy families. These disorders are quite rare, and your baby will not likely have any of them. However, by the time problems arise; permanent damage may already have been done. The safest thing to do is to have your baby tested. If one of the disorders is present, your baby can begin treatment immediately.
What is my baby being tested for?
Tests are carried out for several disorders. These disorders can be effectively treated if discovered early in life.
Your baby will be tested for the following common disorders:
¨ PKU (Phenylketonuria)
This disorder is caused when a baby’s body is not able to break down the amino acid, phenylalanine that is found in the protein of foods. If detected early and the baby is started on a special low protein diet, severe brain damage can be prevented.
¨ Congenital Hypothyroidism
This disorder is caused by the lack of thyroid hormone, which can lead to poor growth and mental development. If found early and treated with thyroid medication, a child will grow and develop normally.
¨ MCAD (Medium Chain acyl-CoA Dehydrogenase) Deficiency
Babies with MCAD deficiency are healthy under normal circumstances. However, they can become very ill, or even die, during illnesses when the child does not eat properly. These complications are prevented with simple dietary measures such as frequent feedings during illnesses.
Other disorders include:
¨ Carnitine Reuptake Deficiency
¨ CPTI and CPTII (Carnitinepalmitoyl Transferase Type I and II)
¨ CTL (Carnitinepalmitoyl Translocase Deficiency)
¨ GAI and GAII (Glutaric Acidemia Type I and II)
¨ Isovaleric Acidemia
¨ LCHAD (Long Chain Hydroxy acyl-CoA Dehydrogenase Deficiency)
¨ MSUD (Maple Syrup Urine Disease)
¨ VLCAD (Very Long Chain acyl-CoA Dehydrogenase Deficiency)
How will I be given test results?
Your baby’s test results are sent back to your family doctor and/or the hospital where the baby was born. You will not be called if they are normal (negative). If additional testing is needed to determine if your child has one of these disorders, your family doctor is informed immediately. If you are notified that your baby needs additional testing, do not delay. In many cases, the repeat test will show that your baby is, in fact, not affected.
I was called and told that my baby’s test needs to be repeated. Does this mean my baby has a disorder?
Not always. There are several reasons why your baby’s doctor may have asked to have your baby retested including:
Unsatisfactory specimen: There was not enough blood to complete all the required screening tests, or the sample does not work for other reasons.
“Too Early” specimen: If the blood specimen was taken before your baby was 16 hours old, a second sample will have to be taken as soon as possible to ensure accurate test results.
Abnormal Test Result: An initial positive test result does not mean that your baby has a disorder. It does mean that your baby needs further testing to determine whether or not he/she has one of these disorders.
What does a “negative” test result mean?
A negative test results means your baby does not have any of the disorders he/she was screened for. Newborn screening only provides information about certain rare disorders of body chemistry. It is very important for your baby to have regular check-ups with your family doctor. This is an opportunity for you to talk about any concerns you have about your baby’s health.
The Nova Scotia Newborn Screening Service is designed to identify babies with rare, serious disorders within a few weeks of birth. This service has been available to Nova Scotia families since 1979. Currently 99.9% of babies born in the province are being tested.
As a parent, you can help to assure the health of your child and of the next generation by participating in the Newborn Screening Service.
If you have any questions, or would like additional information about the Screening Service, please visit our website www.iwk.nshealth.ca