Nation-wide neonatal screening for alpha 1-antitrypsin deficiency (ATD) in Sweden was discontinued due to observations that identification of ATD in newborns seemed in some cases to have negative psychological effects on the parents and the parent-child relationship. A multifaceted study was developed to investigate systematically the psychological and psychosocial consequences of the identification of ATD in the neonatal period, as studied five to seven years after it took place. The study's basic goals, hypotheses, design, samples and methods are described.