Parental awareness of newborn bloodspot screening in Ireland.

Abstract

There is little known regarding how familiar parents are with the newborn bloodspot screening (NBS) test or how well parents of a child with a screen-detected condition understand that condition initially. The study aim was to examine parental NBS awareness and conditions screened. Two studies were conducted: [1] Parents of children with cystic fibrosis (CF) detected via NBS and subsequently, diagnosed (n = 124) completed a telephone questionnaire regarding information they received at the time of NBS. [2] A cross-sectional study of women (n = 662 (58%) antenatal; n = 480 (42%) postnatal) attending three large maternity hospitals completed a questionnaire addressing NBS awareness. Mothers incorrectly identified diabetes/asthma (35% postnatal; 70% antenatal) and sickle cell disease (26%) as conditions on NBS in Ireland. Phenylketonuria was correctly identified by 48/26%, CF by 82/64%, and congenital hypothyroidism by 35/13% postnatal and antenatal women respectively. Of parents of children screen-detected and subsequently, diagnosed with CF, only half (n = 63; 51%) reported awareness at the time of NBS that CF was included. These results should be used to improve the information provided to expectant mothers and to inform health professionals' initial discussions with parents about their child's diagnosis, building on parents' pre-existing knowledge.