Newborn screening: Limited grasp of results, lack of support reported

Only half of parents surveyed knew CF was part of screening programs

Patricia Inácio, PhD avatar

by Patricia Inácio, PhD |

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Most parents of newborns diagnosed with cystic fibrosis (CF) or a different disease as part of U.S. newborn screening programs said understanding the test results was difficult and about a third said they lacked support from their child’s healthcare team, according to a national survey.

“Although all U.S. states screen for at least 33 metabolic and genetic disorders using blood spots collected in the first days of life, we found that parents don’t know enough about newborn screening and need more support from clinicians if their infant has an abnormal test result,” Marie Heffernan, PhD, the study’s lead author, said in a press release.

The survey was led by Ann & Robert H. Lurie Children’s Hospital of Chicago and was conducted over almost three weeks in 2023. The youngest child of the parents invited to take part was not older than 12.

Participants reported on their understanding of newborn screening and their recollections of it. Those who had a child who tested positive also reported on the social and emotional outcomes of the screening processes.

Ashley Hayes presented the results in the poster “Parents’ Awareness, Understanding, and Experiences with Newborn Screening with an Emphasis on Cystic Fibrosis” at the recent Pediatric Academic Societies meeting in Toronto.

CF is caused by mutations in the CFTR gene, which codes for a protein that controls the flow of chloride into and out of cells. As a result, people with CF accumulate a thick and sticky mucus in various organs, including the lungs, digestive tract, and pancreas, impairing their function.

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CF and newborn screening

In the U.S., and many other countries including Canada, Australia, and most of Europe, newborns are tested before leaving the hospital for a range of health conditions, including CF. Detecting CF very early may enable treatment to be started before symptoms arise. Improved nutritional outcomes and better lung function are some of the benefits associated with implementing newborn screening programs in the U.S.

A total of 1,596 parents finished the survey, which had a completion rate of 93.7%. Among the participants, 61% were white, 19% Hispanic/Latino/Spanish, 13% Black or African American, and 7% Asian. Among the respondents, 79% had heard of CF, but only 51% said they knew which conditions are included in newborn screening programs. About half the patients (52%) were unaware that CF was screened.

Among the parents who’d heard about CF before the survey, the percentage was higher in white respondents (87%) than in Hispanic/Latino or Spanish (66%), Black or non-Hispanics participants (68%), or Asians (63%). The percentage of parents who knew CF can be detected with newborn screening was around 50% in all the groups.

“Our results also indicate the need for greater public awareness of newborn screening. Specifically, we need more awareness among providers and the public that infants of all racial and ethnic backgrounds can have cystic fibrosis,” said Susanna McColley, MD, senior author on the study and professor at Northwestern University Feinberg School of Medicine.

The risk of false positive results, which indicate the baby has a disease when in fact they don’t, was known by 58% of the parents. And 54% knew that false negatives were possible, which happens when a test has normal results, but the baby has a disease.

“Our main message to parents is to know your baby’s newborn screening results and follow up immediately if the test is abnormal. Not all babies with an abnormal screening test have the disease that is identified, but timely treatment can make a huge difference for the baby’s health, development and survival. This is certainly true if newborn screening identifies cystic fibrosis,” Heffernan said.

Among 447 parents who had a child with a positive test, 75% said they had difficulties understanding the results and 34% reported they didn’t feel supported by their child’s healthcare team.

“To improve outcomes of conditions like cystic fibrosis that are included in newborn screening tests, stronger partnerships are needed between clinicians and new parents,” McColley said.