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A screening test for the genetic mutation responsible for Tay-Sachs disease has also been developed. This condition is more common in Jewish people of Eastern European and Russian (Ashkenazi) origin. About one out of every 3,600 babies born to Ashkenazi Jewish couples will have the disease. Tay-Sachs is also more common among certain French-Canadian and Cajun French families.
Tay-Sachs is, unfortunately, a fatal genetic disorder in which harmful quantities of a fatty substance accumulate in the nerve cells in the brain. Infants with the condition appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, mental and physical abilities decline. The child becomes blind, deaf and unable to swallow. Muscles begin to atrophy and paralysis sets in. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures hexosaminidase A activity. Both parents must be carriers in order to have an affected child. When both parents are found to carry a genetic mutation, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. If at all possible, this test should be requested before trying to conceive if you and your partner are part of the population with increased risk. Even in early pregnancy, this test is not routine, so you need to fill your doctor in on your ethnic background and family history and then request the test.
Ultrasound
Most women have only one ultrasound throughout their entire pregnancy, and it's usually in the second trimester. But if there's a need for early dating, possibly as part of genetic screening, or when the mother has experienced a problem, an ultrasound may be done during the first trimester. If your pregnancy is normal, you'll just have to wait a little longer to see your baby on the big screen!
