Prenatal diagnosis of sickle hemoglobinopathies: The experience of the Columbia University Comprehensive Center for Sickle Cell Diseases

M. C. Driscoll, N. Lerner, K. Anyane-Yeboa, J. Maidman, D. Warburton, K. Schaefer-Rego, R. Hsu, C. Ince, J. Malin, M. Pallai

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Abstract

We report here an evaluation of 55 pregnancies at risk for a sickle hemoglobinopathy prenatally diagnosed by restriction-endonuclease analysis, with the endonucleases MstII and HpaI, of aminocyte DNA. The diagnosis was completed in all cases. Eleven fetuses were predicted to be affected, of which six were terminated. Forty-one of the 55 cases were confirmed. One false-negative was reported in a case predicted to be hemoglobin AS but that was determined to be hemoglobin SS at birth. We estimate that the 55 cases represent only 5% of the pregnancies at risk for a sickle hemoglobinopathy in the New York metropolitan area during the study period. We conclude that the prenatal diagnosis of sickle hemoglobinopathies by molecular methods is reliable. However, the efficiency of utilization of effectiveness of prenatal testing is dependent on the early prospective identification of couples at risk and on the education of communities concerning (1) the significant morbidity of the sickle hemoglobinopathies and (2) the reproductive choices now available to them.

Original languageEnglish (US)
Pages (from-to)548-558
Number of pages11
JournalAmerican Journal of Human Genetics
Volume40
Issue number6
StatePublished - Sep 9 1987

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Driscoll, M. C., Lerner, N., Anyane-Yeboa, K., Maidman, J., Warburton, D., Schaefer-Rego, K., Hsu, R., Ince, C., Malin, J., & Pallai, M. (1987). Prenatal diagnosis of sickle hemoglobinopathies: The experience of the Columbia University Comprehensive Center for Sickle Cell Diseases. American Journal of Human Genetics, 40(6), 548-558.