Genetic Testing Results

[AnnieMaeMommy2]

I just found out my test results came back for Genetic testing & I have a higher rate for Triscromy 18 (Edwards Syndrome), which is fatal. Normal is 1:6000 & I'm 1:61, which in the big picture is 2%. Still I'm a ratio type of girl & the number makes me nervous. They want to do amniotic fluid testing, which I heard is painful & can actually cause 1:200 miscarriage, BUT is almost 100% accurate. Any feed back on ladies of similar experience? I'm 26, 2nd time mom, 17w+2d.

[AnnieMaeMommy2]

I planned to carry no matter what. I'm a planner and it was only to prepare ourselves and 8yo daughter. As it stands, I'm done with testing I'm opting out of amniotic tests. We will know more as the baby grows :) Thanks for the advice ladies!

[edensinterstate]

I can understand not caring to know if it was something like downs or other genetic disorders because you would love your child no matter what but trisomy 18 is fatal. 50 percent of babies will be stillborn and only 10 percent make it to their first birthday. Honestly, if it were me, id do the amnio just for trisomy 18. This way, If it's negative you don't have to stress your whole pregnancy. Amnio causing miscarriage is not as common as people think.

[jaceandkhimommy]

Hi I also have a high chance with my daughter coming out with downs but hubby and I decided to not do the amnio and love her regardless because it is just that a chance.  God can do great things. My suggestion to you is to think of what you really want and make an informed decision there. I would never do the amnio I dont like the risk. Now I did think about it but through prayer family and support from the ladies here because I cried non stop it is no longer a worry. Good luck

[megadams]

I did the 12 week nuchal translucency screening and the blood work with it. Should have results any day now. For me, it wouldn't change if I carried the baby to term, but would allow me to be prepared in case the baby has special needs. I think you have to decide if your baby does have it would it matter? Andif you would consider termination, get the amnio
. If not.. then don't risk it.

[BCD13]

I think the ratios aren't enough to really worry about with a lot of these tests. .
A one in hundreds chance that bub MAY have one of about 50 disorders... the innacuracy made me rethink having the tests done too, because why worry about nothing? Like Raspberry said above,  if you're going to love bub regardless then there's little more you could do to prepare for a positive reading result anyways

[rasberryxtreme]

I had a false positive 1:275 They also wanted to do an amnio but we opted not to due to the risks. Baby girl was perfectly healthy when she was born. Our doc said a lot.of ladies get false positives. Honestly if you will love your child either way why risk the amnio imo.

[rdeli]

I had similar problem, but mine was with q 22 my baby had heart defects, and low white blood Cell. I had amnio test it wasn't  bad, but it is very risky.  Unfortunately i lost  5 days after.

[nikel24]

Sorry you are in such a tough position. I have not had a similar situation. There is still a high probability that everything is okay. I did genetic screening also but husband and I decided we would not do amnio if it was ever suggested. We decided that no matter the outcome of an amnio was I would carry to term, and accept what god had given us. We did not like the risk of miscarrying a perfectly healthy baby from doing the amnio. The screening was just to give us a possible heads up for anything we needed to possibly prepare for. The reason I say all that is I was wondering if you two have discussed whether the results would change whether you carried to term or not? Good luck to you...I pray everything works out in your favor. Like I said still high probability that your baby doesn't have it.

[AnnieMaeMommy2]

Thank you :)

[brooke_13]

I haven't had a similar experience but I wish you all the best and a healthy baby!