Prenatal diagnosis of severe combined immunodeficiency with defective synthesis of HLA molecules

The immunodeficiency associated with a defective expression of HLA molecules is an autosomal recessive disorder leading to death during childhood. We have performed prenatal diagnosis for six fetuses at risk for this disease by membrane immunofluorescence on blood lymphocytes and monocytes, using specific monoclonal antibodies for HLA class I and II molecules. Two pregnancies have been found to be affected. The diagnosis has been confirmed on each abortus by the study of the membrane expression of HLA class I and II molecules on blood lymphocytes and monocytes, and on thymic and splenic cells. The four other cases were found to be normal both during pregnancy and after birth. The detection of the defect as early as the 20th week of gestation allows selective termination.