United States: Survey results indicate that parents of newborns with CF are in a dilemma about the nature of the disease and are unaware of the steps ahead.
On the other hand, the survey indicates that new parents have little information on the fact that they routinely screen their newborn babies for a very rare disorder that they may be unfamiliar with. This absence of awareness could result in late treatment with a negative impact on the child’s health, placing scientists in a state of grief.
Dr. Susanna McColley, the senior researcher and scientific director for interdisciplinary research partnerships with the Stanley Manne Children’s Research Institute at Lurie Children’s Hospital of Chicago, 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,” as US News reported.
Moreover, “Our results also indicate the need for greater public awareness of newborn screening,” she said.
Further, “Specifically, we need more awareness among providers and the public that infants of all racial and ethnic backgrounds can have cystic fibrosis,” She added.
More about the study
The Cystic Fibrosis Foundation reports that around 40,000 people, including children and adults, are living with CF in the United States.
In individuals with CF, gene defects cause mucus in various organs to become thick and syrupy.
This thick mucus can become trapped inside the lungs, leading to mucus buildup that spreads infections and causes respiratory failure. In the pancreas, mucus buildup slows or prevents the release of digestive enzymes, affecting food absorption and nutrition uptake into the body. Liver disease can also result from these issues.
CF can be treated even before symptoms arise; therefore, the diagnosis process occurs during newborn hearing screening tests. Unfortunately, the diagnosis is often delayed or missed in Black, Hispanic, and Asian babies, researchers note.
Research has found that the timing of appointments for children with cystic fibrosis can be critical. Appointments might be scheduled four weeks after birth, later than the recommended date, for better outcomes, according to researchers.
During this time, nutritional status can deteriorate, and lung disease can develop more frequently in children, which is associated with poor growth in childhood and predicts health status throughout their lives.
According to a nationwide survey of about 1600 parents, approximately 8 in 9 (79 percent) were familiar with cystic fibrosis.
Contrarily, with the data collected from the survey, it was found that a little above fifty percent (52 percent) of the people weren’t aware of the fact that CF is screened in newborn screening tests.
Another revelation from the survey showed that at least (75 percent) of parents have very little knowledge about the meaning of child screening test results, while one-third (34 percent) were not even supported by their child’s healthcare providers.
What is the lead researcher saying?
Marie Heffernan, the lead researcher and survey science lead at the Stanley Manne Children’s Research Institute at Lurie Children’s Hospital of Chicago, said, “Although all US 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,” as reported by US News.
Furthermore, a survey revealed that parents are ignorant that the diagnostic tests can deceive, what is, they need further checkups to be sure.
Somewhere between 58 percent and 60 percent of the parents were unaware of the fact that false positive results are possible with a disease diagnosis, which wrongly indicates a healthy child as having the disease.
Moreover, 54 percent of the respondents were not aware of the false-negative outcomes of the test which means that if this test shows a healthy child as without the disease is also possible.
Heffernan said, “Our main message to parents is to know your baby’s newborn screening results and follow-up immediately if the test is abnormal,” and “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.”