European Journal of Pediatrics

, Volume 127, Issue 3, pp 197–204 | Cite as

Prenatal diagnosis of β-thalassemia using selective hemolysis of maternal cells contaminating fetal blood sample

  • M. Jensen
  • V. Zahn
  • K. H. Orend
Original Investigations


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. [3] 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 words

Prenatal diagnosis Thalassemia Selective hemolysis 


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  1. 1.
    Alter, B. P., Modell, C. B., Fairweather, D., Hobbins, J. C., Mahoney, M. J., Frigoletto, F. D., Sherman, A. S., Nathan, D. G.: Prenatal Diagnosis of Hemoglobinopathies. A review of 15 cases. N. Engl. J. Med. 295, 1437 (1976)Google Scholar
  2. 2.
    Alter, B. P.: Pers. comm.Google Scholar
  3. 3.
    Boyer, S. H., Noyes, A. N., Boyer, M. L.: Enrichment of erythrocytes of fetal origin from adult-fetal blood mixtures via selective hemolysis of adult blood cells: an aid to antenatal diagnosis of hemoglobinopathies. Blood 47, 883 (1976)Google Scholar
  4. 4.
    Chang, H., Modell, C. B., Alter, B. P., Dickinson, M. J., Frigoletto, F. D., Huehns, E. R., Nathan, D. G.: Expression of the β-thalassemia gene in the first trimester fetus. Proc. Natl. Acad. Sci. 72, 3633 (1975)Google Scholar
  5. 5.
    Cividalli, G., Nathan, D. G., Kan, Y. W., Santamarina, B., Frigoletto, F.: Relationship of beta to gamma synthesis during the first trimester. An approach to prenatal diagnosis of thalassemia. Ped. Res. 8, 553 (1974)Google Scholar
  6. 6.
    Clegg, J. B., Naughton, M. A., Weatherall, D. J.: Abnormal Human Hemoglobins: Separation and characterization of the α- and β-chains by chromatography, and the determination of two new variants, Hb Cheasapeake and Hb J (Bangkok). J. Mol. Biol. 19, 91 (1966)Google Scholar
  7. 7.
    Drysdale, T. W., Righetti, P., Bunn, H. F.: The separation of human and animal hemoglobins by isoelectric focusing in polyacrylamide gel. Biochem. Biophys. Acta 229, 42 (1971)Google Scholar
  8. 8.
    Hobbins, J. C., Mahoney, M. J.: In utero diagnosis of hemoglobinopathies. Technic for obtaining fetal blood. N. Engl. J. Med. 290, 1065 (1974)Google Scholar
  9. 9.
    Jensen, M., Zahn, V.: Fetoskopie, eine neue Methode in der pränatalen Diagnostik. Münch. Med. Wschr. 118, 625 (1976)Google Scholar
  10. 10.
    Jensen, M.: UnpublishedGoogle Scholar
  11. 11.
    Kan, Y. W., Nathan, D. G., Cividalli, G., Crookston, M.: Concentration of fetal red blood cells from a mixture of fetal and maternal blood by anti-i serum: an aid to prenatal diagnosis of hemoglobinopathies. Blood 43, 411 (1974)Google Scholar
  12. 12.
    Kan, Y. W., Golbus, M. S., Trecartin, R., Furbetta, M., Cao, A.: Prenatal Diagnosis of homozygous β-thalassemia. Lancet 1975II, 790Google Scholar
  13. 13.
    Kan, Y. W., Golbus, M. S., Trecartin, R. F., Filly, R. A., Valenti, C., Furbetta, M., Cao, A.: Prenatal Diagnosis of Beta-Thalassemia and Sickle Cell Anemia. Experience with 24 Cases. Lancet 1977I, (8006): 269Google Scholar
  14. 14.
    Kleihauer, E., Braun, H., Betke, K.: Demonstration von fetalem Hämoglobin in den Erythrozyten eines Blutausstrichs. Klin. Wschr. 35, 635 (1957)Google Scholar
  15. 15.
    Matsaniotis, N., Kattamis, C.: Thalassemias, a social problem in Greece. Ann. Soc. Belg. Med. Trop. 49, 223 (1969)Google Scholar
  16. 16.
    Sell, J. E., Petering, H. G.: Carbonic anhydrase from human neonatal erythrocytes. J. Lab. Clin. Med. 84, 369 (1974)Google Scholar
  17. 17.
    Weatherall, D. J., Clegg, J. B.: The Thalassemia Syndromes. 2nd Ed. Oxford: Blackwell Sci. Publ. 1972Google Scholar

Copyright information

© Springer-Verlag 1978

Authors and Affiliations

  • M. Jensen
    • 1
  • V. Zahn
    • 2
  • K. H. Orend
  1. 1.KinderpoliklinikUniversity of MunichGermany
  2. 2.2nd Hospital for WomenUniversity of MunichGermany

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