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  • Title: First-trimester prenatal diagnosis of Tay-Sachs disease.
    Author: Grabowski GA, Kruse JR, Goldberg JD, Chockkalingam K, Gordon RE, Blakemore KJ, Mahoney MJ, Desnick RJ.
    Journal: Am J Hum Genet; 1984 Nov; 36(6):1369-78. PubMed ID: 6240199.
    Abstract:
    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 beta-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 beta-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.
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