False-Positive Newborn Screening: What Do Parents Experience?

Background: New technologies (e.g. Tandem Mass-Spectrometry), have made it possible to test newborns for over 25 treatable genetic diseases. Such testing is now mandatory across the United States. While this testing has been shown to improve the health of thousands of children, an unfortunate outcome is that many parents receive “false-positive” (FP) results, where the initial newborn screening test (NBS) is positive, but further testing later shows that the child does not have the condition. For every true positive found, there are about six false-positives. Thus large numbers of parents today experience a false-positive NBS. In order to improve the process of NBS, it is important to understand how parents experience a false positive NBS. This qualitative study explored the experience of parents whose baby had a NBS which turned out to be a false-positive.

Methods: Informants were recruited through the Health Departments in two states. Parents who participated in this study had children aged 6-13 months old who needed repeat testing after NBS, and whose follow-up test results indicated that the NBS result was a FP. Data were gathered through in-depth interviews and focus groups. Grounded theory methods were used to guide the data analysis. Interviews and focus groups were transcribed and analyzed using Nvivo7. Trustworthiness was enhanced through prolonged engagement, triangulation and member-checking.

Results: Twenty parents participated in semi-structured interviews, and fourteen participated in focus groups. The analysis identified five distinct stages of the parental experience: 1) receiving the news, 2) getting the follow-up test, 3) waiting for resolution, 4) learning the follow-up test result, and 5) adapting to life after NBS. All parents experienced anxiety upon learning of the initial test result, ranging from mild to severe. The waiting period between follow-up testing and receiving the final test result was the most difficult. The use of coping mechanisms such as information seeking and social support was problematic for these parents. Those who explored the internet sometimes learned that the disease was serious or life-threatening. The decision whether to seek social support was equally complex, because some parents wanted to protect loved ones from unnecessary anxiety Upon receiving confirmation that their child did not have the disease, most parents experienced immediate dissipation of their anxiety, but a few had some lingering anxiety, and continued to check their child for signs of illness. Many described positive impacts, such as gaining new perspective on life, achieving confidence as a parent, and learning empathy.

Conclusions and Implications: The identification of five distinct stages of parental experience implies that educational materials should be tied to the information and support needs of parents at each of the specific stages. There are also implications for training health providers, including social workers, to provide appropriate information in advance and to help parents as they go through NBS testing. The results of this qualitative analysis have informed the development of a structured telephone questionnaire that is currently being used to further explore the FP experience in a larger sample of parents in three US states.