Post # 1
For those of you TTC and undergoing various types of pre-conception screening, I would highly suggest requesting the SMA carrier testing from your OB. I have never heard of the disease, but found out it is a very serious (sometimes fatal) genetic disease. I recently found out I am a carrier and we are in the process of testing my SO to see if/how our baby will be affected. I think its always helpful to have the knowledge even though I know testing is a personal decision.
Good luck on TTC.
Post # 3
I agree that it’s a good idea. It’s a simple blood test. I too was positive, and you’re right, its a very, very serious condition. If DH was positive, we had a 1 in 4 chance of our child having it (and therefore likely not suriviving infancy). I was very glad that he tested negative! I hope your DH will as well.
Post # 4
@HopefulForLittleOne: To confrim that I’m getting the right info, if your SO is negative no further testing is needed. Altough its likely that your child will be a carrier as well right?
Post # 5
@RedBullFueled: If you are negative no further testing is needed because it doesn’t matter if your SO is positive – you both have to be carriers for the baby to have a chance of getting it. Remember punnet squares from biology?
Just as an example, it’s like if you were both positive, you’d both be “Ss”. You each give one of the “S”s to the baby – if you both give a “big” S, the babydoesn’t have the disease and isn’t a carrier. If one gives a Big S and one gives a little s, the baby is a carrier. If you both give a little s, the baby has the disease (since it is a non-dominant trait).
If one of you is a carrier and the other is not, you’d be Ss and SS respectively. Since it isn’t possible to pass on the diseased little s from the second parent, the child can be a carrier (25% chance) but can’t get the disease. So, if whoever they test first is negative, no further testing is required.