My husband is a carrier of Usher Syndrome, will my baby be affected by the abnormality or would the disease skip him? I'm 4 months pregnant now and I'm afraid to do a chromosome test.
Usher syndrome is a hereditary disease that causes deafness and gradual vision loss. The trait is recessive, meaning the condition occurs only if both parents carry the recessive genetic code for the trait.
Usher syndrome is inherited as an autosomal recessive trait. The term autosomal means that the mutated gene is not located on either of the chromosomes that determines a person’s sex; in other words, both males and females can have the disorder and can pass it along to a child. The word recessive means that, to have Usher syndrome, a person must receive a mutated form of the Usher syndrome gene from each parent. If a child has a mutation in one Usher syndrome gene but the other gene is normal, he or she is predicted to have normal vision and hearing. People with a mutation in a gene that can cause an autosomal recessive disorder are called carriers, because they “carry” the gene with a mutation but show no symptoms of the disorder. If both parents are carriers of a mutated gene for Usher syndrome, they will have a one-in-four chance of having a child with Usher syndrome with each birth.
Therefore, only if both of you carry the gene the baby will be affected.
DON'T be afraid to go ahead with the test, and mostly your child will not be.
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