Psychological Effects of False-Positive Results in Cystic Fibrosis Newborn Screening: A Two-Year Follow-Up

Objective

To evaluate parental stress after a false-positive result at the time of the cystic fibrosis (CF) newborn screening (NBS), attributable to heterozygotism or persistent hypertrypsinemia.

Study design

A prospective study was conducted in 86 French families at 3, 12, and 24 months after NBS. A psychologist conducted interviews with a questionnaire, the Perceived Stress Scale, and the Vulnerable Child Scale.

Results

Overall, 96.5% of parents said they had been anxious at the time of the sweat test. However, 86% felt entirely reassured 3 months after the test. The mean Perceived Stress Scale score did not differ from that observed in the French population. Mean Vulnerable Child Scale scores were high, associated with a low Parental Perception of Child Vulnerability. These results did not differ significantly at 1 and 2 years. In total, 86% to 100% of families no longer worried about CF. All parents stated that they would have the test performed again for another child.

Conclusions

CF NBS can lead to false-positive results, causing parental anxiety, which quickly decreases after a sweat test performed soon after the phone call.

CF, Cystic fibrosis, CFTR, Cystic fibrosis transmembrane conductance regulator, CRCM, Specialized cystic fibrosis centers, HZ, Heterozygous, IRT, Immunoreactive trypsin, NBS, Newborn screening, PHT, Persistent hypertrypsinemia, PPCV, Parental Perception of Child Vulnerability, PSS, Perceived Stress Score, VCS, Vulnerable Child Scale