When a baby is born in Canada the child will undergo newborn screening. This routine battery of tests checks for rare but serious medical conditions—many of which, if detected early, can be treated to avoid lifelong disability or even death.
What Is Newborn Screening?
Newborn screening is a standardized program of tests performed shortly after birth, typically involving:
- Heel-prick blood test (also called the Guthrie test): A few drops of blood are collected from the infant’s heel and sent to a public health laboratory.
- Hearing screening: A quick and painless test to check for congenital hearing loss.
- Pulse oximetry: A sensor placed on the baby’s skin measures blood oxygen levels to help detect critical congenital heart defects.
A variety of metabolic, genetic, endocrine, and hematologic disorders are tested for, including:
- Phenylketonuria (PKU) – a metabolic disorder that can cause intellectual disability if untreated
- Congenital hypothyroidism – can lead to growth and developmental delays
- Cystic fibrosis
- Severe combined immunodeficiency (SCID)
- Sickle cell disease
- Galactosemia (metabolic disorder)
- Spinal muscular atrophy (SMA)
Why are These Conditions Tested?
The key principle behind newborn screening is early detection and intervention. The conditions included in screening programs are tested for because they can cause severe disability, intellectual impairment, or death. Importantly, while a baby may appear healthy symptoms can develop symptoms rapidly and early intervention can significantly improve outcomes.
What Can Go Wrong with Newborn Screening?
Although newborn screening is routine and widely trusted, errors can occur. Common issues include:
1. Failure to Collect the Sample Properly
- The heel-prick blood test wasn’t taken at the right time (too early or too late)
- Sample was insufficient, contaminated, or mishandled
2. Laboratory Errors
- The lab misread or misreported the results
- Positive results were classified as normal (false negative)
- Delay in processing the sample or reporting results
3. Failure to Notify or Follow Up
- Healthcare providers failed to inform parents of abnormal results
- Follow-up testing or referrals were not made in a timely manner
- Critical treatment windows were missed as a result
4. Miscommunication Between Providers
- Discharge before results were reviewed
- Lack of communication between birthing facility and pediatrician
Impact of Delayed or Missed Diagnoses
The newborn screening panel includes conditions that require rapid medical attention. A delay in administering treatment can lead to:
- Permanent brain damage (i.e. from untreated PKU or congenital hypothyroidism)
- Cardiac arrest or death (i.e. from undiagnosed critical congenital heart defects)
- Progressive muscle wasting and paralysis (i.e. from missed spinal muscular atrophy)
- Seizures, developmental delay, or liver failure (i.e. from metabolic conditions like galactosemia)
If your child was diagnosed too late with a condition that should have been detected early — and has suffered a catastrophic outcome as a result — you may have grounds for a medical negligence claim.
