• Posted May 6, 2024

Parents of Infants With Cystic Fibrosis Often Feel Confused, Unsupported: Survey

Parents of newborns diagnosed with cystic fibrosis often are confused about both the disease and their next steps, a new national survey has found.

In fact, about half of new parents don’t even know that newborns are routinely screened for the genetic disorder, the poll found.

This confusion can lead to a delay in treatment that will have long-term consequences for a child’s health, researchers said.

“To improve outcomes of conditions like cystic fibrosis that are included in newborn screening tests, stronger partnerships are needed between clinicians and new parents,” senior researcher Dr. Susanna McColley, scientific director for interdisciplinary research partnerships with the Stanley Manne Children’s Research Institute at Lurie Children’s Hospital of Chicago, said in a news release.

“Our results also indicate the need for greater public awareness of newborn screening,” she added. “Specifically, we need more awareness among providers and the public that infants of all racial and ethnic backgrounds can have cystic fibrosis.”

Close to 40,000 children and adults are living with CF in the United States, according to the Cystic Fibrosis Foundation.

In people with CF, genetic mutations cause mucus in various organs to become thick and sticky.

This can cause the lungs to become clogged with mucus, leading to infections and respiratory failure. In the pancreas, mucus buildup prevents the release of digestive enzymes that help the body absorb food and nutrients. Mucus blockage also can lead to liver disease.

Treatment of CF prior to symptoms appearing can lead to better long-term health, researchers said, which is why it is included in newborn screening tests. Unfortunately, CF diagnosis is often delayed or even missed, especially in Black, Hispanic and Asian newborns, researchers said.

Studies have shown that initial cystic fibrosis follow-up visits often are delayed as much as four weeks after birth, later than the recommended schedule for best outcomes, researchers said in background notes.

This delay is associated with worse nutrition, more lung disease and poorer growth in childhood, which predicts the long-term health of children with CF, researchers said.

In the national survey of nearly 1,600 parents, about 4 in 5 (79%) had heard of cystic fibrosis, results show.

However, about half (52%) didn’t know CF was included in newborn screening tests, the poll found.

And among parents who had a child with a positive newborn screening test, 3 in 4 (75%) had difficulty understanding the test results and 1 in 3 (34%) didn’t feel supported by their child’s health care team.

“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,” lead researcher Marie Heffernan, survey science lead with the Stanley Manne Children’s Research Institute at Lurie Children’s Hospital of Chicago, said in a news release.

The poll also found that parents don’t know that the screening tests can be wrong, and require follow-up. About 58% didn’t know there could be false positive results – in which a child is healthy but the test shows disease – and 54% didn’t know that false negative results were possible.

“Our main message to parents is to know your baby’s newborn screening results and follow-up immediately if the test is abnormal,” Heffernan said. “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.”

More information

The Cystic Fibrosis Foundation has more about cystic fibrosis.

SOURCE: Lurie Children's Hospital of Chicago, news release, May 5, 2024