A future for neonatal alpha(1)-antitrypsin screening?

A WHO expert group recommends neonatal screening for alpha(1)-antitrypsin d eficiency (alpha(1)ATD). Homozygous alpha(1)ATD PiZZ occurs in 1 in 5000 of the U.S. Caucasian population and up to 1 in 500 individuals of the Europe an population, with a large regional variation. It is a risk factor that pr edisposes mainly to liver disease in early infancy and emphysema in early a dulthood. Most importantly, smoking decreases the duration of the asymptoma tic phase and life expectancy by 10-20 y. The Swedish alpha(1)AT screening programme and subsequent information and advice prevented the majority of a dolescents from starting to smoke. The involved parents and alpha(1)ATD ado lescents retrospectively recommended neonatal screening. Potential advantag es of neonatal alpha(1)AT screening are: early diagnosis and treatment of n eonatal liver disease, optimal treatment of fever and bacterial infections theoretically preventing liver eel damage, genetic advice and information a bout the consequences of passive and active smoking. Potential advantages o f postponing screening until age 11-12 y are identification of alpha(1)ATD close to the age when smoking may start, and possibility for the child to t ake part in the screening decision. Disadvantages of alpha(1)AT screening a re: psychosocial reactions-the mother probably being most vulnerable in the neonatal period-and discrimination by insurance companies and employers. Important uncertainties are: lack of knowledge concerning participation in a voluntary alpha(1)AT screening, psychosocial reactions and the efficacy o f anti-smoking advice if the information is given to school-age children an d families. Thus the question Whether and when to screen for alpha(1)ATD is still the topic of lively debate.