The load of genetic and partially genetic disorders in man I. Congenital anomalies: estimates of detriment in terms of years of life lost and years of impaired life

摘要: Abstract This paper represents an attempt to estimate quantitatively, the detriment associated with spontaneously arising congenital anomalies in man. The system used International Classification of Diseases (Chapter XIV, entries 740–759) has been followed classify anomalies. Detriment was assessed using estimates years life lost, potentially impaired and actually impaired, as indicators. data on birth prevalences for various conditions were derived from several epidemiological surveys carried out Hungary Hungarian Congenital Malformation Registry. Most information mortality profiles obtained records Central Statistical Office, Budapest. An overall comparison prevalence figures those U.S. (this study aimed at complete ascertainment) Canadian province British Columbia (in this study, ascertainment is believed be incomplete) showed that, Hungary, least certain classes anomalies, particularly some less severe ones, have under-ascertained. Since are heavily dependent accurate prevalences, we believe that arrived may also underestimates. In total all isolated major order about 600/104. Our calculations show these cause, per 104 livebirths, 4800 loss, 37 000 4500 life. calculations, it assumed average life-expectancy live general population 70 years. These considerably higher than made by Carter monogenic disorders.