Question 1

I have already had children who are healthy and we still plan to have more. Surely I don’t need to be tested?

Ester Unterslak · Accepted Answer

Unfortunately there is a misconception that because you have healthy children, neither parent is a carrier for the same condition. Ashkenazi conditions follow an autosomal recessive inheritance pattern. This means both mother and father need to be a carrier for the same condition. If they are, with EACH pregnancy- there is a 25% chance of having an affected child, 25% unaffected and 50% carrier. Carriers are asymptomatic and it will not affect them

Question 2

I have already had children who are healthy and we still plan to have more. Surely I don’t need to be tested?

Ester Unterslak · Accepted Answer

Unfortunately there is a misconception that because you have healthy children, neither parent is a carrier for the same condition. Ashkenazi conditions follow an autosomal recessive inheritance pattern. This means both mother and father need to be a carrier for the same condition. If they are, with EACH pregnancy- there is a 25% chance of having an affected child, 25% unaffected and 50% carrier. Carriers are asymptomatic and it will not affect them