Prenatal diagnosis of classic hemophilia

S. I. Firshein, L. W. Hoyer, J. Lazarchick, B. G. Forget, J. C. Hobbins, L. P. Clyne, F. A. Pitlick, W. A. Muir, Irwin R. Merkatz, M. J. Mahoney

Research output: Contribution to journalArticle

69 Citations (Scopus)

Abstract

Prenatal diagnosis of classic hemophilia (hemophilia A) in mid-trimester was achieved by means of immunoradiometric assays for factor VIII on fetal plasma and amniotic-fluid mixtures obtained by fetoscopy. Samples were analyzed from six male fetuses at risk for severe hemophilia and from nine control fetuses for which fetoscopy was carried out to attempt prenatal diagnosis of other genetic disorders. The factor VIII coagulant-antigen values for the control (non-hemophilic) samples were 17 to 94, and the factor VIII related-antigen concentrations were 50 to 155 U per deciliter. Three of the fetuses at risk for hemophilia had factor VIII values in the control range, and these infants were normal at birth. The other three fetuses had low concentrations of factor VIII coagulant antigen but normal concentrations of factor VIII related antigen. These values and the diagnoses of severe hemophilia were confirmed with blood from the abortuses.

Original languageEnglish (US)
Pages (from-to)937-941
Number of pages5
JournalNew England Journal of Medicine
Volume300
Issue number17
StatePublished - 1979
Externally publishedYes

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Hemophilia A
Prenatal Diagnosis
Factor VIII
Fetus
Fetoscopy
von Willebrand Factor
Immunoradiometric Assay
Inborn Genetic Diseases
Amniotic Fluid
Parturition

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Firshein, S. I., Hoyer, L. W., Lazarchick, J., Forget, B. G., Hobbins, J. C., Clyne, L. P., ... Mahoney, M. J. (1979). Prenatal diagnosis of classic hemophilia. New England Journal of Medicine, 300(17), 937-941.

Prenatal diagnosis of classic hemophilia. / Firshein, S. I.; Hoyer, L. W.; Lazarchick, J.; Forget, B. G.; Hobbins, J. C.; Clyne, L. P.; Pitlick, F. A.; Muir, W. A.; Merkatz, Irwin R.; Mahoney, M. J.

In: New England Journal of Medicine, Vol. 300, No. 17, 1979, p. 937-941.

Research output: Contribution to journalArticle

Firshein, SI, Hoyer, LW, Lazarchick, J, Forget, BG, Hobbins, JC, Clyne, LP, Pitlick, FA, Muir, WA, Merkatz, IR & Mahoney, MJ 1979, 'Prenatal diagnosis of classic hemophilia', New England Journal of Medicine, vol. 300, no. 17, pp. 937-941.
Firshein SI, Hoyer LW, Lazarchick J, Forget BG, Hobbins JC, Clyne LP et al. Prenatal diagnosis of classic hemophilia. New England Journal of Medicine. 1979;300(17):937-941.
Firshein, S. I. ; Hoyer, L. W. ; Lazarchick, J. ; Forget, B. G. ; Hobbins, J. C. ; Clyne, L. P. ; Pitlick, F. A. ; Muir, W. A. ; Merkatz, Irwin R. ; Mahoney, M. J. / Prenatal diagnosis of classic hemophilia. In: New England Journal of Medicine. 1979 ; Vol. 300, No. 17. pp. 937-941.
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AU - Clyne, L. P.

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