Clinical Follow‐up and Parental Attitudes Towards Neonatal Screening

Abstract

Infants (200,000) born in Sweden between Nov. 1972 and Sept. 1974 were screened at birth for .alpha.1-antitrypsin (.alpha.1 AT) deficiency. At age 4 yr, 172 of 183 children with .alpha.1 AT deficiency were examined and compared with 80 randomly selected control children. The children with .alpha.1 AT deficiency had the following Pi types: 118 PiZ, 50 PiSZ, 2 PiZ-, 1 PiS- and 1 PiFZ. Two PiZ children have severe liver cirrhosis and 1 PiZ boy had died of aplastic anemia. Abnormal levels of serum alanine aminotransferase (S-ALAT) were found in 1 PiSZ and 47 PiZ children. Upper and lower respiratory infections, otitis, eczema, urinary infections or complications of child diseases did not occur more often in children with .alpha.1 AT deficiency than in controls. More parents of .alpha.1 AT deficient children had stopped smoking and their fathers smoked significantly less. Forty parents of children with .alpha.1 AT deficiency PiZ answered a questionnaire concerning their reaction to, knowledge about and attitudes towards neonatal screening for .alpha.1 AT deficiency. Many parents reported having reacted with lack of understanding, shock or depression upon learning that the child had .alpha.1 AT deficiency. Approximately 4 yr later, 44% still reported lack of understanding, and 18% depression or feelings of guilt. Approximately 2/3 had not fully understood why .alpha.1 AT deficiency had been identified, despite the fact that they had seen their doctor 3-4 times for check-ups and counseling since birth.