Newborn screening

Newborns receive newborn screening to check for rare diseases or medical conditions and identify them very early, before your baby shows any signs or symptoms. Babies affected by these disorders or conditions can appear healthy at birth, but if they have one of these conditions they may be at risk for health problems like developmental disabilities and serious illnesses. That’s why doctors strongly recommend routine screening for all newborn babies because catching these diseases or conditions very early allows for early treatment and is more likely to prevent permanent damage, or in some cases, even death.

What are newborns tested for?

The tests look for over 40 rare diseases. About one in 1,000 babies born in Manitoba are affected by these conditions. Some conditions screened for are:

• Cystic Fibrosis, a serious condition that affects lungs and digestion.

• Hypothyroidism, which can affect growth and development.

• PKU, or phenylketonuria, which affects how certain foods are processed and can cause intellectual disabilities.

• Sickle cell disease, a blood disorder that can be painful and cause damaging complications. 

• SCID, or Severe Combined Immunodeficiency, which can cause life-threatening immune system problems.

Newborns also receive hearing screening testing. About 1 in 500 babies is born with hearing loss. Finding a hearing problem early helps to prevent speech and language delay and allow for typical social development. 

What does screening involve?

For rare disease testing, a small blood sample is taken by pricking your newborn’s heel and it is sent to Cadham Provincial Lab for testing. The sample should be taken between one and five days after your baby is born. 

For newborn hearing tests, a small señor or earphone is used to check how your baby responds to sound. Soft sounds are played, and a computer measures the response from your baby’s ears. Many babies sleep during the test, and you can even hold or breastfeed your baby. 

When is screening done?

Testing is generally done before your baby leaves the hospital. In some cases, you may be referred for screening if it is not done in hospital. If your baby was born outside of a hospital, talk to your doctor or midwife to ensure testing is done within a few days of birth. 

How are the results shared?

For rare disease testing, over 99% of babies test negative, so no action is required. You will be contacted if:

• Another test is required, which happens sometimes when the first sample was insufficient.

• There is a concerning result that requires follow up. This does not necessarily mean your baby has a rare disease, but rather that further testing may be required. You will be contacted by your baby’s doctor or a specialist.

For hearing screening, if your baby does not pass the initial screening test, they will be referred for a second test, which is a different type of test. If that test does not rule out hearing loss, your baby will be referred to an audiologist for further testing and advice. 

Can I decline routine screening for my baby?

Doctors strongly recommend routine newborn screening for all babies because catching these diseases or conditions early makes it easier to treat them, easier to prevent permanent damage or death, and helps to keep your baby healthy and developing normally. However, you can decline this test for your baby if you wish. 

Before declining this testing, we recommend talking to your doctor first to learn about the benefits of testing and to discuss your concerns. It’s best to discuss these concerns before your baby is born. While newborn screening is considered a routine standard to ensure the health and well-being of your baby, parents do have the right to decline the testing.

Learn more

You can learn more about newborn screening from the resources below:

• Rare Disease Newborn Screening (Cadham Provincial Lab) 

• Manitoba Universal Newborn Hearing Screening (Manitoba Health)