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Tay-Sachs Disease-Carrier Screening, Prenatal Diagnosis, and the Molecular Era
JAMA 270:2307-2315, Kaback,M.,et al, 1993
See this aricle in Pubmed

Article Abstract
Data from all centers in the international TSD network in experience with TSD carrier testing and prenatal diagnosis since 1974 indicated that more than 36000 heterozygotes were identified and 1056 couples found to be at risk for TSD in their offspring.A total of 2416 pregnancies at increased risk for TSD were monitored by amniocentesis or chorionic villus sampling. A dramatic decrease in the incidence of TSD in the Jewish populations was demonstrated.With both serum and leukocyte proficiency testing,there have been only 16 instances(of 845 cumulative laboratory evaluations)of one or more errors reported by a laboratory since 1983 resulting in nonaccreditation.
 
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gangliosidosis GM2
genetic counselling
genetic diagnosis,prenatal
genetic neurologic disorders
genetic screening
hexosaminidase-A
molecular genetics
prenatal diagnosis by amniocentesis
prevention of neurologic disorders
Tay-Sachs disease

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