Tests appropriate for the prenatal diagnosis of ataxia telangiectasia

A fetus ‘at-risk’ for ataxia telangiectasia (A-T) was monitored prenatally by several approaches which, in concert, might yield information of diagnostic value: measurement of amniotic fluid AFP levels; the clastogenic potential of ‘at-risk’ amniotic fluid; and cytogenic evaluation of fetal amniocytes. All three parameters proved negative and normality, based primarily on the chromosomal study of fetal cells, was therefore presumed. This conclusion was confirmed shortly after birth by normal serum AFP levels and the lack of increased spontaneous or clastogen-induced chromosome breakage in the infant's cells. Based on previous observations from four normal and one affected fetus, the coordination of these techniques provides adequate methodology for the antenatal assessment of the phenotypes associated with A-T.