Newborn screening can cause lingering anxiety for some parents
Worry often persists in people whose children are found to be mutation carriers
Parents face significant anxiety and uncertainty after their newborn screens positive for a lysosomal storage disorder (LSD) like Pompe disease, but these emotions usually resolve over time once families receive clear, comprehensive information, a new study finds.
However, researchers warn that this anxiety often persists in parents whose children are identified as carriers of these conditions, suggesting a need for more focused counseling after newborn screening (NBS). These parents often report lingering concern and a perceived vulnerability similar to those whose children had true positive or inconclusive results.
The findings come from parental surveys and interviews conducted by researchers at Children’s Mercy Medical Center, in Missouri, and published in Molecular Genetics and Metabolism, in a study titled “Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder.“
LSDs are inherited diseases caused by the buildup of substances that cells cannot properly break down. In Pompe disease, for example, mutations prevent the breakdown of glycogen, a large sugar molecule, leading to symptoms such as progressive muscle weakness and heart problems.
In recent years, newborn screening programs have been implemented to test for several LSDs, including Pompe, Fabry disease, Krabbe disease, and mucopolysaccharidosis type I. These programs enable earlier diagnosis and treatment, but they may also bring psychological stress for parents awaiting or processing results.
Study design and participant groups
To better understand these effects, researchers assessed 130 parents of children who tested positive for one of these LSDs as newborns. Fifty were followed prospectively, completing surveys at several time points after screening, and 80 were evaluated retrospectively, at least a year after receiving results.
The prospective group was subdivided into two groups. PC1 included parents whose children completed confirmatory testing in a NBS referral center right after receiving their results. PC2 included parents whose children had confirmatory testing before the referral center visit.
Among prospective participants, those in the PC1 group showed a significant decline in uncertainty between enrollment at the NBS referral center and later follow-ups, as measured by the Parent Perception of Uncertainty Scale.
Anxiety, assessed with the Hospital Anxiety and Depression Scale-Anxiety subscale, also fell between enrollment and a two-week follow-up, although it remained stable afterward. No similar changes were seen in PC2, where children had received confirmatory results before the referral visit.
When comparing across groups, the researchers found no major differences in final uncertainty or anxiety scores. Still, in PC2, parents of children with true positive or inconclusive results reported higher uncertainty than those of carriers. Parents of children with true-positive results also reported significantly greater intrusive and avoidant thoughts than those with inconclusive or carrier results.
In the retrospective group, anxiety levels among parents of carriers were comparable to those with true positive or inconclusive results, but significantly higher than among parents of false positives.
Overall, parental anxiety, uncertainty, and satisfaction varied significantly by confirmatory result type and group, with false positives being consistently associated with poorer psychological outcomes.
I think that I’ve kind of cherished him a little bit more just going through that and knowing what it would feel like to think I was losing him.
Impact on parent-child bonding
Interview data also revealed that even parents whose children were ultimately unaffected sometimes continued to think about the NBS and their child’s health. Others described how counseling and communication helped ease their fears.
“During that appointment, they really took the time to go through and field all of my questions and kind of check in with me and things of that nature,” said a parent of a 2-month-old child with Pompe.
Most parents reported the NBS experience did not affect their relationship with their child, though some admitted being more watchful or protective afterward. For some, that brought closeness; for others, overprotectiveness.
“I think that I’ve kind of cherished him a little bit more just going through that and knowing what it would feel like to think I was losing him,” said a parent of a Pompe disease carrier.
A few parents also reported the stress of waiting for results interfered with early bonding.
“In the emotional response of trying to protect myself, I didn’t want to get too close to her,” said a parent of a Krabbe disease carrier.
Expressions of protectiveness or heightened concern were more frequent among parents with greater anxiety and perceptions of vulnerability, indicating these measures may influence parent-child relationships.
“The findings confirm the initial uncertainty and anxiety experienced by parents in the NBS process and demonstrate that these feelings resolve over time and with receipt of confirmatory testing results for most parents,” the researchers concluded.
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