Q&A: Public transit signs educate Chicago parents on newborn screening, cystic fibrosis

Key takeaways:

• In addition to public transit signs, billboards and digital ads are spreading awareness of newborn screening.
• Parents desire discussion on newborn screening before birth.

To educate parents on the importance of newborn screening, following up after abnormal results and detecting cystic fibrosis, the Ann & Robert H. Lurie Children’s Hospital of Chicago unveiled a new campaign, according to a press release.

This campaign includes public transit signs, billboards and digital ads to spread awareness, the release said.

As Healio previously reported, when asked about newborn screening tests, nearly half of 1,596 U.S. parents with a child aged 0 to 12 years did not know the conditions included on these tests. In response to, “Did you know that cystic fibrosis (CF) is a disorder that can be detected with newborn screening?” only 48% of the total cohort said yes.

These and other survey findings informed the campaign, according to the release.

Healio spoke with Susanna McColley, MD, FAAP, ATSF, pediatric pulmonologist at Lurie Children’s and professor of pediatrics at Northwestern University Feinberg School of Medicine, to learn more about the awareness campaign, CF detection on newborn screening and how clinicians can advise parents to be proactive about newborn screening and follow-up.

Healio: How prevalent are CF diagnoses at birth?

McColley: The estimated birth prevalence of CF is currently around 1:4,000 live births in the U.S., with state-by-state variation. I’ve seen citations of 1:3,700 to 1:4,400.

Healio: What problems linked to CF could be prevented when parents quickly follow up on abnormal newborn screening results?

McColley: Our research has shown that infants who have delays in their first CF Center evaluation have worse nutrition at ages 1 year and 5 years compared with infants who are evaluated within 2 weeks of birth. At 1 year, both weight and height are decreased, whereas at 5 years, height is decreased. This is important because preschool weight and height percentiles predict later lung function and survival to adulthood. Infants evaluated later also had a higher rate of hospitalizations for respiratory problems than infants evaluated earlier.

There are also severe complications of CF that sometimes occur when diagnosis is delayed. Salt loss in the sweat can cause low sodium levels in the blood that can cause heart rhythm problems, seizures and death. Blood clotting is dependent on vitamin K, a fat-soluble vitamin that is not absorbed into the bloodstream when the pancreas does not break down fat. Avoiding these complications was one of the reasons that newborn screening was implemented.

Healio: In your experience/research, what patient populations are assessed at a later age? What may be the reasons for this?

McColley: Our research shows that infants who have only one CFTR variant identified on a newborn screening test are seen at a later age than infants who have two CFTR variants identified.

Our research also found that public health newborn screening follow-up personnel experienced delays in or even lack of physician referral based on race and ethnicity. Our group also found that infants from racial and ethnic minority groups were more likely to have only one variant or even no variants on the genetic testing done by newborn screening laboratories. So, in combination, we have strong evidence that both the testing strategies and physician behavior are major reasons that infants from racial and ethnic minority groups are evaluated later than white children.

Having said that, we also found lower awareness of CF in parents who identified themselves as being Black, Hispanic and Asian on a large survey we conducted.

The purpose of our newborn screening campaign is to raise awareness of newborn screening overall, and CF newborn screening in particular, so that parents get their infant’s results and get evaluated within the recommended window for any positive screening test. In CF, that’s within the first month of life, but it’s also recommended that infants whose newborn screening tests are positive are evaluated for CF within 3 days of parental notification. This allows implementation of therapy and family education.

We also continue to work on health care practitioner awareness of CF, both to promote quick referrals of every child with a positive screening test and so that children with symptoms of CF get evaluated quickly. With the best current newborn screening technology, we will still miss at least 5% of CF cases. Some babies have immunoreactive trypsinogen (a pancreatic protein that is the first measurement for CF newborn screening) levels below the threshold that leads to testing for gene variants, and as noted above, some gene variants will be missed. There are also specific types of gene variants that aren’t tested for in most programs due to analytic complexity.

Healio: What do the public transit signage and billboards say? What images do they include? Why did you choose that wording/those images to convey the importance of follow-up?

McColley: Our public transit signs have graphics with brief messages about the importance of knowing your infant’s newborn screening results and taking action if there is a positive screening test. One version also explains what types of disorders are tested for, and another specifically talks about CF. Hearing tests, tests for severe congenital heart disease, and tests for genetic and metabolic disorders are all part of newborn screening.

We based our messages on our survey research findings and focused on plain language. We used images that represented babies with a range of skin and hair colors to be representative. Most importantly, we had two focus groups of parents who reviewed the messages and gave feedback, after which we updated them. We translated them all into Spanish, using professional interpreters, since Spanish is the primary language for many people in our metropolitan area.

Healio: What is your advice for clinicians in making sure parents are proactive about newborn screening and follow-up?

McColley: Another finding from our focus groups was that parents want to learn more about newborn screening before their infant is born. This means that it should be addressed during obstetrical visits with a doctor or midwife, and also when parents have prenatal visits with a pediatrician or other health care provider who will care for the child.

I again want to reiterate that there are gaps in newborn screening public health and health care provider practice. To a great extent, our campaign goal is that parents/caregivers are informed and activated after the birth of their child and seek those results.

Because of the importance of timely and equitable newborn screening, the Cystic Fibrosis Foundation sponsored development of a cystic fibrosis newborn screening practice guideline. I had the honor of co-chairing that committee. We recently submitted the guideline for publication after a public commentary period that added valuable perspectives and are hopeful that it will be published within the next months.

For more information:

Susanna A. McColley, MD, FAAP, ATSF, can be reached at smccolley@luriechildrens.org.

References:

• Cystic fibrosis newborn screening: Findings for health care professionals. https://www.luriechildrens.org/en/specialties-conditions/newborn-screening-for-cystic-fibrosis/findings-for-health-care-professionals/. Accessed March 14, 2025.
• Lurie Children’s campaign urges parents to follow up right away if newborn screening results are abnormal. https://www.luriechildrens.org/en/news-stories/lurie-childrens-campaign-urges-parents-to-follow-up-right-away-if-newborn-screening-results-are-abnormal/. Published Feb. 1, 2025. Accessed Feb. 3, 2025.
• Lurie Children’s cystic fibrosis 2023 national indicator report. https://www.luriechildrens.org/globalassets/media/pages/specialties--conditions/conditions/cystic-fibrosis/cystic-fibrosis-national-indicator-report-2024.pdf. Published July 2024. Accessed March 14, 2025.