Psychosocial impact on mothers receiving expanded newborn screening results

Abstract

Expanded newborn screening (NBS) for genetic disorders has improved diagnosis of numerous treatable diseases, positively impacting children's health outcomes. However, research about the psychological impact of expanded NBS on families, especially mothers, has been mixed. Our study examined associations between maternal experiences of expanded NBS and subsequent psychosocial functioning and parenting stress in mothers whose infants received either true negative (TN), true positive (TP) or false positive (FP) results after a 4- to 6-month period. The Parenting Stress Index and the Depression, Anxiety and Stress Scale were used to assess symptoms of anxiety, stress and depression in 3 sets of mothers, whose infants received TN (n = 31), TP (n = 8) or FP (n = 18) results. Multivariate analyses of variance (MANOVA) results revealed no significant differences among these three groups of mothers regarding overall anxiety, stress and depression. However, FP mothers experienced lower levels of stress related to their own health compared to TN group. Two potential trends were also identified; results suggested TN mothers might experience higher levels of isolation than mothers in the TP group and that FP mothers might report higher stress levels in relation to spousal relationships compared to the TN group. FP mothers seemed to report similar or better levels of psychosocial functioning than TN mothers. Our findings are encouraging with respect to impacts of NBS on maternal well-being. We also identify key areas for improvement (parental education) and research (isolation and spousal relationships).

“We needed this”: perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy

“…This is particularly relevant for newborns who may not develop infantile onset disease, and therefore are at risk of over-surveillance or over-treatment secondary to a neonatal screening result [11] . Concerns about the potential for psychosocial disruption to familial bonds from NBS programs have focused on parents receiving false-positive results [12] . There are few studies to date that have prospectively explored the psychosocial sequalae on families with genetic true-positive screen results after NBS, with no literature on the early impact of NBS for SMA.…”

Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency

“…False-positive results of NBS should be avoided. Guardians can be exposed to unnecessary stress by such results [ 14 , 15 ],. Perinatal stress of mothers could affect neuronal and behavior development of the baby [ 16 ].…”

Elements of genetic counseling for inborn errors of metabolism

“…For primary care providers who are often the first to contact a family about abnormal newborn screen results, it is essential that they assess how the family responds to the information to help guide them for prompt follow up. A decrease in distress has been shown for parents of children with true and false positives from metabolic newborn screening when the caregivers were connected with a metabolic center/expert providers to support them at the time of the initial screen results [14].…”