Psychological consequences of neonatal screening for alpha 1-antitrypsin deficiency. Parental reactions to the first news of their infants' deficiency

Abstract

Medical record information and retrospective parental reports at interview indicated that the 61 families were typically first contacted about the child's alpha 1-antitrypsin deficiency (ATD) during its first 6 months of life, when a physician called the mother on the telephone and told her at least something about the child's ATD. Most parents felt they had received unclear or inadequate information. A majority initially conceived of ATD as representing an imminent, serious danger to the child's health. Most of the mothers (78%) and many of the fathers (58%) reported having immediately had negative emotional reactions, most often worry, anxiety and fear. These reactions were often long-lasting and, in mothers, typically strong.