Prenatal diagnosis of β-thalassemia using selective hemolysis of maternal cells contaminating fetal blood sample
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The prenatal diagnosis of the severe, hereditary anemias may be impossible when a placental blood sample which contains a high percentage of maternal rather than fetal cells is obtained. An incubation system described by Boyer et al.  with minor modifications, was applied to mixtures of blood from prematures and adults in order to increase the proportion of premature cells. After 40 min incubation, 95% or more of adult red cells were destroyed, whereas 30–60% of premature red cells were recovered, as determined by several independent methods.
In a pregnancy at risk for β-thalassemia, a placental blood sample which was purely fetal was obtained. Complete lack of in vitro β-globin synthesis showed the fetus to have homozygous β-thalassemia. When fetal blood was mixed with maternal blood in a ratio of 1∶15, β-globin synthesis in the mixture was comparable to that of normal fetuses. In contrast, when the cell mixture was subjected to selective hemolysis prior to separation of globins, β-globin synthesis again was not detectable. Thus, using selective hemolysis, the correct diagnosis could be established from a blood sample containing only about 6% of fetal cells.
Key wordsPrenatal diagnosis Thalassemia Selective hemolysis
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