Prenatal diagnosis of sickle hemoglobinopathies: the experience of the Columbia University Comprehensive Center for Sickle Cell Disease.

@article{Driscoll1987PrenatalDO,
  title={Prenatal diagnosis of sickle hemoglobinopathies: the experience of the Columbia University Comprehensive Center for Sickle Cell Disease.},
  author={Marykate Driscoll and Narcinda Lerner and Kwame Anyane-Yeboa and Jack E Maidman and Dorothy Warburton and K E Schaefer-Rego and Richard Hsu and C Ince and J H Malin and Michele Pallai},
  journal={American journal of human genetics},
  year={1987},
  volume={40 6},
  pages={548-58}
}
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 amniocyte 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… CONTINUE READING

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