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Old 06-07-2011
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Question Tay sachs genetic counseling

question from a forum, but no answer:

couple comes to you, the husband is jewish but not ashkenazi, they both do not have family history for TS, and they are worried if their children would get it, whats the next step?
1- test husband, if negative, no need to test wife
2- do nothing

what do you think?
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Old 06-09-2011
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Default Ar-tsd

TSD is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% (1 in 4) risk of giving birth to an affected child. 50% (1/2) risk of unaffected carrier and 1/4 chance of unaffected child.

When a child has two defective copies of an autosomal gene, he is affected.

For that reason, if the father doesn't carry the gene, the child is not affected. However, he may well be unaffected carrier (1/2 chance).

I think your option-1 sounds reasonable.

But there is no family history of the disease in both parents. If they're 100% sure, I don't think we need to do any test. Unless there is another genetic abnormalities such as sporadic mutation which I don't think is the case in TSD to my knowledge.

Let's hear what others think!
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