Prenatal Exclusion of Alpha1-Antitrypsin Deficiency in a High-Risk Fetus

Publisher Website
Google Scholar
Abstract
To the Editor: One of the most common metabolic diseases,α1-antitrypsin deficiency, is associated mainly with cirrhosis in children and with chronic obstructive lung disease in adults.1 2 3 This antitrypsin is the major protease inhibitor (Pi) of human serum. We should like to report our first prenatal study for α1-antitrypsin deficiency in a fetus at high risk for this disease. The fetal blood was obtained by means of fetoscopy.With use of the electrofocusing technic, the microheterogenous patterns in serum of the normal Pi MM, the heterozygote Pi MZ and the deficient homozygote Pi ZZ phenotypes can be . . .