The prevention and management of autosomal recessive conditions. Main example: alpharantitrypsin deficiency

Abstract

In populations in which a particular autosomal recessive disorder is treatable and relatively common, and for which there is a simple diagnostic test, newborns can be screened and treated. For some disorders, such as alpha 1-AT, young people can be screened and given appropriate advice to ameliorate the future symptoms. For some severe common and non-treatable autosomal recessive disorders, for example cystic fibrosis, carrier tests will probably soon be available for population screening of young people. Couples found to be carriers can then be offered prenatal diagnosis and termination of the pregnancy, if the fetus is affected. In the not-too-distant future the approaches will hopefully be treatment and correction of these disorders in the affected fetus or newborn.