Experiences of cystic fibrosis newborn screening and genetic counseling

Abstract

Abstract The South Carolina cystic fibrosis (CF) newborn screening (NBS) program changed in 2019 to include CFTR genotyping for babies with top 4% immunoreactive trypsinogen, which improves sensitivity and timeliness, but increases carrier detection. Carrier identification has genetic implications for the family and parents of NBS+ babies have increased emotional distress. Genetic counseling (GC) may increase parent understanding and reduce anxiety yet is not uniformly offered at CF centers. We report our early results after implementing GC for NBS+ families at the time of sweat chloride testing (SCT). Sixteen mothers participated in an online survey about their experience. The child’s pediatrician notified 10 (62.5%) of the NBS+ result. Parents felt they were notified in a timely manner (68.8%), by someone knowledgeable about NBS (62.5%), SCT (62.5%), CF (43.8%), and genetics (43.8%) and who cared about them (81.3%). Parents felt worried (81.3%), confused (81.3%), empowered (25%) and other (sad, shocked, scared, overwhelmed, devastated, defeated). Most (87.5%) sought additional information before SCT. Sadness and anxiety increased transiently with NBS+ result; bondedness with the baby was not affected. Nine mothers received GC with suggestion of reduced distress. Knowledge was high among both cohorts. GC was rated very helpful, informative, comforting, and minimally distracting. Data from this single-center study suggest benefit of GC and that families would value earlier contact with an expert.