[Prenatal diagnosis of severe hereditary immunologic deficiencies]

The recent progress in antenatal diagnosis methods led us to develop the antenatal diagnosis of several forms of hereditary and severe immune deficiencies (ID): severe combined ID (13 cases), combined ID associated with a defective expression of HLA (2 cases), X-linked agammaglobulinemia (4 cases), chronic granulomatous disease (1 case). Antenatal diagnosis was performed by studying by micromethods lymphocyte markers and functions in fetal venous blood samples obtained under foetoscopy (20 cases) or echography (1 case). Cytological studies were coupled with microscopical examination of the skin and the hair of a foetus at risk for a Chediak-Higashi disease. These methods allowed the continuation of the pregnancy in 16 cases. Thirteen neonates were normal and two pregnancies go on. In one case, the diagnosis of the integrity of the immune system led to the birth of a child suffering from a severe combined ID not yet described. This child was cured with a HLA semi-identical bone-marrow transplantation. An abortion was proposed for two fetuses affected with severe combined ID which was confirmed by histological examination. Two accidental abortions occurred, one of them probably as a consequence of the fetoscopy.