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

Research output: Contribution to journalArticle

9 Citations (Scopus)

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 - 1987
Externally publishedYes

Fingerprint

Hemoglobinopathies
Sickle Cell Anemia
Prenatal Diagnosis
Sickle Hemoglobin
Pregnancy
DNA Restriction Enzymes
Fetus
Parturition
Morbidity
Education
DNA

ASJC Scopus subject areas

  • Genetics

Cite this

Driscoll, M. C., Lerner, N., Anyane-Yeboa, K., Maidman, J., Warburton, D., Schaefer-Rego, K., ... 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.

Prenatal diagnosis of sickle hemoglobinopathies : The experience of the Columbia University Comprehensive Center for Sickle Cell Diseases. / Driscoll, M. C.; Lerner, N.; Anyane-Yeboa, K.; Maidman, J.; Warburton, D.; Schaefer-Rego, K.; Hsu, R.; Ince, C.; Malin, J.; Pallai, M.

In: American Journal of Human Genetics, Vol. 40, No. 6, 1987, p. 548-558.

Research output: Contribution to journalArticle

Driscoll, MC, 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, vol. 40, no. 6, pp. 548-558.
Driscoll, M. C. ; Lerner, N. ; Anyane-Yeboa, K. ; Maidman, J. ; Warburton, D. ; Schaefer-Rego, K. ; Hsu, R. ; Ince, C. ; Malin, J. ; Pallai, M. / Prenatal diagnosis of sickle hemoglobinopathies : The experience of the Columbia University Comprehensive Center for Sickle Cell Diseases. In: American Journal of Human Genetics. 1987 ; Vol. 40, No. 6. pp. 548-558.
@article{3687b67e97334e0e9fc5c04a192a8a6e,
title = "Prenatal diagnosis of sickle hemoglobinopathies: The experience of the Columbia University Comprehensive Center for Sickle Cell Diseases",
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.",
author = "Driscoll, {M. C.} and N. Lerner and K. Anyane-Yeboa and J. Maidman and D. Warburton and K. Schaefer-Rego and R. Hsu and C. Ince and J. Malin and M. Pallai",
year = "1987",
language = "English (US)",
volume = "40",
pages = "548--558",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "6",

}

TY - JOUR

T1 - Prenatal diagnosis of sickle hemoglobinopathies

T2 - The experience of the Columbia University Comprehensive Center for Sickle Cell Diseases

AU - Driscoll, M. C.

AU - Lerner, N.

AU - Anyane-Yeboa, K.

AU - Maidman, J.

AU - Warburton, D.

AU - Schaefer-Rego, K.

AU - Hsu, R.

AU - Ince, C.

AU - Malin, J.

AU - Pallai, M.

PY - 1987

Y1 - 1987

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0023184791&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023184791&partnerID=8YFLogxK

M3 - Article

VL - 40

SP - 548

EP - 558

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 6

ER -