ABSTRACT

The prenatal diagnosis of the hemoglobinopathies became a realistic goal when Huehns and his associates found evidence that hemoglobin A is present in small amounts in the red cells of the human fetus. A synthesis that employed radioisotopic labelling of the relevant hemoglobins or globin chains of the intact red cells of mid-trimester fetuses. The number of attempts necessary to achieve an adequate sairple often requires multiple aspirations, increasing the clanger of hemorrhage and abruptio placenta. It is, however, a technique that requires no special instrumentation other than ultrasonic placental localization. Fibroblasts have defied efforts to induce than to express their globin genes in a manner that would permit reliable prenatal diagnosis, but as progress in molecular and cell biology continues, couples at risk will be beneficiaries. The fetal explications have been higher in the placental aspiration group and the yields of fetal red cells lower.