PRENATAL-DIAGNOSIS OF 3 CASES OF SEVERE COMBINED IMMUNODEFICIENCY - SEVERE T-CELL DEFICIENCY DURING THE 1ST-HALF OF GESTATION IN FETUSES WITH ADENOSINE-DEAMINASE DEFICIENCY

  • 1 January 1984
    • journal article
    • research article
    • Vol. 56  (2) , 223-232
Abstract
The prenatal diagnosis of severe combined immunodeficiency (SCID) was made in 3 fetuses by staining fetal blood obtained at fetoscopy with a panel of monoclonal antibodies. There were < 100 T cells/mm3 of fetal blood in these 3 cases compared to 2,500/mm3 in 14 immunologically normal fetuses. Cells bearing the cortical thymocyte antigen (NA1/34) were not detected in any of the normal or affected fetal blood samples. Two of the affected fetuses were also homozygous for a deficiency of adenosine deaminase (ADA) with undetectable levels of red cell ADA. All 3 affected fetuses were aborted and postmortem tissue was obtained in 2 cases. In both of these cases the thymus was markedly hypoplastic and contained no lymphoid cells. One of these fetuses was homozygous for ADA deficiency and the virtual absence of T cells or thymocytes during the 2nd trimester of pregnancy indicates that placental access to the maternal circulation does not prevent damage to the T lineage stem cells in this disease. Prenatal diagnosis of SCID has previously only been possible in patients with a defined metabolic defect such as ADA deficiency, but these studies indicate that prenatal diagnosis now may be offered for most at risk pregnancies.