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Science 2 April 1971:
Vol. 172. no. 3978, pp. 61 - 64
DOI: 10.1126/science.172.3978.61
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Articles

Tay-Sachs Disease: Prenatal Diagnosis

John S. O'Brien 1, Shintaro Okada 1, Dorothy L. Fillerup 1, M. Lois Veath 1, Bruce Adornato 1, Paul H. Brenner 1, and Jules G. Leroy 1

1 Departments of Neurosciences and Obstetrics and Gynecology, and University Hospital, School of Medicine, University of California at San Diego, La Jolla 92037

Fifteen pregnant women with a 25 percent risk of delivering a child with Tay-Sachs disease were monitored by amniocentesis and hexosaminidase A assays of amniotic fluid, uncultured amniotic cells, and cultured amniotic cells. Tay-Sachs disease was diagnosed prenatally in six fetuses; the diagnosis was confirmed in one child after birth and in five fetuses after therapeutic abortion. Prenatal diagnosis indicated the absence of Tay-Sachs disease in nine other fetuses; this diagnosis was confirmed postnatally in six, three are still in utero.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Tay-Sachs Disease-- Carrier Screening, Prenatal Diagnosis, and the Molecular Era: An International Perspective, 1970 to 1993.
M. Kaback, J. Lim-Steele, D. Dabholkar, D. Brown, N. Levy, K. Zeiger, and for the International TSD Data Collection Network (1993)
JAMA 270, 2307-2315
   Abstract »    PDF »
Ocular Pathology of Infantile Niemann-Pick Disease: Study of Fetus of 23 Weeks' Gestation.
E. L. Howes Jr., I. S. Wood, M. Golbus, and M. L. Hogan (1975)
Arch Ophthalmol 93, 494-500
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The Lipid Storage Diseases: New Concepts and Control.
R. O. BRADY (1975)
Ann Intern Med 82, 257-261
   Abstract »    PDF »
Fetal Globoid Cell Leukodystrophy (Krabbe Disease) Pathological and Biochemical Examination.
W. G. Ellis, E. L. Schneider, J. R. McCulloch, K. Suzuki, and C. J. Epstein (1973)
Arch Neurol 29, 253-257
   Abstract »    PDF »
Ultrastructure Manifestations of GM1 and GM2 Gangliosidosis in Fetal Tissues.
A. K. Percy, U. M. McCormick, M. M. Kaback, and R. M. Herndon (1973)
Arch Neurol 28, 417-419
   Abstract »    PDF »
New Prospects for Understanding and Control of Genetic Diseases.
J. E. Seegmiller (1972)
Arch Intern Med 130, 181-185
   Abstract »    PDF »


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