| Description |
Newborn screening (NBS) is the largest application of genetic testing in health care. False-positives are a common risk of the NBS program. Screening of babies in the United States results in tens of thousands of false-positive results annually. Even with subsequent normal follow-up results, some parents continue to experience distress, potentially leading to adverse effects on family functioning and overuse of health care for their infants. The current literature lacks theoretical explanations for the underlying processes of the distress parents experience. The Uncertainty in Illness Theory guided the study. The specific aims were to determine (a) the relationship of maternal uncertainty and distress, (b) the mediating role of uncertainty in the relationship between maternal NBS knowledge and maternal distress following a false-positive NBS, and (c) the relationship of uncertainty and health care utilization for infants. Seventy-nine mothers whose children had a false-positive NBS completed surveys. An existing uncertainty scale was adapted for the present study and called the Uncertainty in Screening Scale (UISS). It demonstrated strong reliability and concurrent validity. Uncertainty was positively associated with distress. Mothers' NBS knowledge was unrelated to distress; therefore, no mediational analysis was conducted. Uncertainty and health care utilization were also unrelated. Although most mothers in this study had a high level of knowledge about the standard process of NBS, qualitative findings suggested this information was inadequate and that they needed information about the meaning of the abnormal screen and the confirmatory testing process. Approximately 10% of the mothers remained uncertain at the time of the survey. Open-ended responses to questions about the NBS false-positive process were content analyzed and four themes emerged: communication, satisfaction with health care providers, distress, and gratefulness. Although the key study objectives were not achieved, the potential contributions of this project to the field include the following: (a) the UISS has the ability to identify a subset of parents who are at risk for prolonged uncertainty about a false-positive NBS, and (b) the study identifies types of information parents need about an abnormal NBS and the confirmatory testing process. With further research, specific tools could be developed for providers and extra resources could be directed towards parents who are at greatest risk for prolonged adverse emotional effects. |
