First-trimester prenatal diagnosis of Tay-Sachs disease

G. A. Grabowski, J. R. Kruse, J. D. Goldberg, K. Chockkalingam, R. E. Gordon, K. J. Blakemore, M. J. Mahoney, R. J. Desnick

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23 Scopus citations


The prenatal diagnosis of Tay-Sachs disease was made in two at-risk fetuses by the analysis of chorionic villi obtained at 9 and 11 menstrual weeks, respectively. The diagnoses were based on the absence of β-hexosaminidase A activity as determined by: (1) specific enzyme assays, (2) anion-exchange chromatography, and (3) cellulose acetate gel electrophoresis. The enzymatic diagnoses were confirmed on fetal tissue as well as by ultrastructural demonstration of the first-trimester fetal neuropathology. Optimal assay conditions for β-hexosaminidase A in chorionic villi were established for the prenatal diagnosis of Tay-Sachs disease. Importantly, it was noted that a small amount of decidua or maternal blood could lead to misdiagnosis. Thus, extreme care must be taken in the preparation of chorionic villi for Tay-Sachs as well as other prenatal metabolic diagnoses.

Original languageEnglish (US)
Pages (from-to)1369-1378
Number of pages10
JournalAmerican journal of human genetics
Issue number6
StatePublished - Dec 1 1984
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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