From a New Test to New Hope


There are few moments in life that are as precious as the arrival of a newborn baby into the world.

After 40 weeks of pregnancy, it is a highly anticipated event filled with emotion. To top it all off, lots of information is provided to new mothers, which can be a little overwhelming, including information about breast feeding, swaddling, diapers, cord blood banking, newborn screening, car seats, baby baths, and the list goes on.

As the newborn screening coordinator for Newfoundland and Labrador, it doesn’t surprise me when I call new mothers about newborn screening results and they often don’t seem to remember that their baby received this screening while in hospital.

My Path to Newborn Screening

Newborn screening is a blood test that is collected between 24 and 72 hours of life that screens for a variety of metabolic disorders, congenital hypothyroidism and cystic fibrosis. All of these disorders are treatable.

Sara Fernandez, newborn screening coordinator with Eastern Health

Sara Fernandez, newborn screening coordinator with Eastern Health

Identifying these conditions early can reduce and often prevent serious complications that can significantly, sometimes fatally, affect a baby’s development. Cystic fibrosis was added to the list of conditions screened for in June 2015, and that is where my story began!

I am originally from Montreal where I received my master’s degree in genetic counselling. After graduation, I moved to St. John’s, NL, working in various specialties including general genetics, prenatal counselling, hereditary cancer and newborn screening. Although my involvement with newborn screening was initially small, the idea that I was part of a program that helped newborns be healthy and can save lives was thrilling!

Cystic Fibrosis

Made possible by funding by the Provincial Government, Eastern Health expanded its newborn screening profile in June 2015 to include testing for cystic fibrosis. Cystic fibrosis is a disease that can have various effects on the body, but it mostly affects the digestive system and lungs. That is why early intervention is absolutely critical to slow the progression of the disease, as it can help to reduce irreversible lung damage and impediments to physical growth.

When cystic fibrosis was added to the panel of conditions screened for by newborn screening, I jumped at a new opportunity that became available, taking on the role of newborn screening coordinator! I knew that some challenges laid ahead of me since there had never been a person fully dedicated to newborn screening before; I knew I had a lot to learn and I was so excited!

I became aware very quickly how many people were involved in making newborn screening happen. From the nurses, medical lab technologists and biochemists who help collect samples and run the testing, to the nurses, physicians and clinicians who help coordinate follow-up for positive screens and affected babies – everyone has their role to play in making newborn screening happen.

Being Screened

Newborn screening starts with a blood sample obtained by pricking a baby’s heel and placing the blood on a special paper card. Once the sample has been collected, it is sent to the biochemistry lab at the Health Sciences Centre where a variety of tests are performed that are designed to look at different markers that can be higher or lower in babies with the conditions screened for through newborn screening.

Yvette Jesso, medical lab technologist, punching blood dot cards

Yvette Jesso, medical lab technologist, punching blood dot cards

Making the Call

Once each test has been completed, medical lab technologists notify me of any positive results. My job is to contact the parents of babies with positive newborn screening results and make sure that follow-up testing is arranged to clarify if their baby has the disorder they screened positive for or not. No matter how many times I make that call, it still is never easy to tell a new parent that there is an increased chance that their child could have a condition that could seriously affect their health.

Sara Fernandez, newborn screening coordinator, calling a parent with test results

Sara Fernandez, newborn screening coordinator, calling a parent with test results

Although early treatments significantly improve the outcomes for these babies, this is often the last thing parents hear when I call to follow-up on these results. An important message that I try to get across during this phone call is that many newborn screens are “false positives,” meaning that follow-up testing is normal, suggesting that the baby is likely not affected. I also try to emphasize the significant impact that early diagnosis and treatment can have on the health of babies identified through newborn screening.

This is often a tough job because it is hard to provide reassurance to new parents when a seed of worry has been planted in their mind. Nonetheless, it is a job I am happy to do as these new parents need someone to help guide them through the process of determining if their child could have one of these disorders. I will do whatever I can to help them through it!

Follow-up Testing

Although I am always a phone call away to answer any questions, many times, all we can do is wait until we have the result of the follow-up testing. Parents often find themselves looking for any sign that their child could be affected. Every cough, sneeze, cry turns into a possible sign that something is wrong. However, the reality is that symptoms are often not apparent at this young age, which is why newborn screening generally allows us to detect conditions before we would be able to diagnose them clinically.

If follow-up testing confirms that everything is normal, I get to call the parents back and give them the good news! I must admit, these are my favorite calls to make. Parents are often anxiously awaiting my call and it makes me so happy to be able to reassure them that the follow-up testing was negative. Their relief is always easy to hear, and hopefully the stress initially experienced becomes a memory soon to be forgotten.

Being Diagnosed

If the follow-up testing confirms a diagnosis, the next step is a referral to a specialty clinic where the parents and their baby will meet with an amazing team of staff, including physicians and clinicians with knowledge and experience following children with their disease.

Dr. Lesley Turner, geneticist who oversees newborn screening and follows babies with metabolic disorders in Eastern Health’s metabolic clinic

Dr. Lesley Turner, geneticist who oversees newborn screening and follows babies with metabolic disorders in Eastern Health’s metabolic clinic

In the case of cystic fibrosis, thanks to the various treatments that have become available over the years, the average life expectancy of individuals with the condition continues to increase and is now 51 years of age. With the introduction of newborn screening and the drive to continue to improve treatment options, hopefully the life expectancy will be even higher for the children who are identified with the condition today. This is what motivates me every day to do what I do!

Group picture of Sara Fernandez and her peers (l-r) Anne Collins, medical lab technologist; Dr. Lesley Turner, geneticist; Sara Fernandez, newborn screening coordinator; Yvette Jesso, medical lab technologist; Sergei Likhodi, biochemist

Group picture of Sara Fernandez and her peers
(l-r) Anne Collins, medical lab technologist; Dr. Lesley Turner, geneticist; Sara Fernandez, newborn screening coordinator; Yvette Jesso, medical lab technologist; Sergei Likhodi, biochemist

Well, as you can see, newborn screening is quite a process and it would not be possible without the hard work and expertise of all the nurses, medical lab personnel, clinicians and staff who come together every day at Eastern Health to make it happen! I am truly honoured to be a part of this amazing team and to help our newborns be as healthy and as strong as they can be.

This story was written by Sara Fernandez, newborn screening coordinator with Eastern Health.

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