1. Medical Research to Prevent the Inheritance of Ataxia-Telangiectasia
Approximately one percent of the population carries the recessive gene mutation that causes Ataxia-Telangiectasia. Because of the rarity of the disease, which occurs in less than 100,000 individuals worldwide, there are no current screening methods to determine whether an individual is a carrier of the gene mutation. For the disease to be inherited a child must inherit the recessive gene from both parents. Even in cases where both parents carry the recessive gene, the chances of conceiving a child who has A-T is only 25 percent. Research is being conducted that would make it possible for parents to be screened for the Ataxia-Telangiectasia gene mutation prior to conception. As of now, however, these tests aren't readily available.
2. Discovering Fetal Abnormalities With Prenatal Genetic Testing
Genetic testing can be done on the developing fetus to determine whether the child will be born with Ataxia-Telangiectasia. Such a test can ease the mind of worried parents or give them the option of terminating the pregnancy. These tests are generally done in the first trimester or early in the second trimester to give parents an option as to whether they want to continue the pregnancy.
One of the most common prenatal tests for Ataxia-Telangiectasia is known as haplotyping. This test requires blood samples from the fetus, each parent and any siblings who may be carriers of the disease.
3. Additional Options for Carrier Parents
For some parents, the 25 percent chance that their child could have Ataxia-Telangiectasia is too great. To prevent the disease altogether, these parents consider other avenues to parenthood, including artificial insemination and adoption. For those who choose to use donor sperm, the risks of having a child with A-T become very low, as there is only a 1 in 100 chance of the donor having the mutated gene.
