Prenatal testing for inherited immune deficiencies by fetal blood sampling

Abstract
In an attempt to develop a prenatal diagnosis in [human] fetuses at risk for immunodeficiency, fetal blood sampling was performed under fetoscopy at 18-22 wk of gestation. Normal values were obtained from 35 control fetuses whose blood punctures were undertaken for the diagnosis of hemoglobinopathies. Surface markers and in vitro mitogen-induced proliferation of the fetal lymphocytes were studied by micromethods. Two fetuses at risk for 2 different types of severe combined immunodeficiency were then examined. Their immunological integrity was established, hence avoiding an unjustified termination of pregnancy. This immunological integrity was confirmed after birth.