Who should have TSD carrier testing?
• Individuals of Eastern European Jewish, Quebec French Canadian, and Cajun ancestries. • Individuals with a family history of TSD, regardless of ancestry. • Both mother and father during pregnancy if one or both have Jewish, Quebec French Canadian, and Cajun ancestry and carrier testing has not been performed by 13 weeks LMP. (ACOG No.93, March 1991). Which other disorders occur more often with Jewish ancestry? • BLOOM SYNDROME (BS) BS is a rare disorder characterized by growth retardation, decreased immune system function, sun-sensitivity erythema and a high rate of cancer. About half of affected individuals die of cancer before age 30. • CANAVAN DISORDER (CD) CD is a progressive, neurodegenerative disorder caused by lack of the enzyme, aspartoacylase. This deficiency results in a progressive mental retardation and poor muscle control. Severity and life expectancy vary with some children dying in the first year of life and others surviving into their teens. • CYSTIC FIBROSIS (CF) In
