Genetic Testing / Cell Free DNA

[Kosmo37]

Hi I am hoping that someone out there has some encouraging story for me. I am 37 and pregnant with our 3rd. My first two kids were born naturally and healthy. My son had an increased nuchal fold and we had a CVS done at 12 weeks. It took two weeks for the results and everything was ok. I opted to do the cell free DNA based on my OB's advice and now I wish I hadn't. I wish I had just gone ahead and done the CVS test. I am scheduled to have another ultrasound and possible CVS test in week and I will be almost 13 weeks....and then it takes two weeks for the results. If we are faced with a termination, I will be 15 weeks!!!! I am petrified. On the cell free DNA test I tested positive for Trisomy 18 with a 53% chance of the baby being affected. I was told that there can be cases of false positives so I am trying to be positive. The ultrasound tech told me the baby is measuring at 4.06 and they would have preferred to see it measure at 4.50 so its slightly smaller. I am going nuts with worry......any encouragement is helpful.

 

[Scout]

Best of luck, hun. I had the MaterniT21 test back when I was pregnant with daughter bc I had a risk of 1:11 for trisomy 13, 18, but that test comes back with a positive or negative, not a percentage. I haven't read up on any of the tests except the Materni, but with that one, and I'd assume the others, if you get a positive result the accuracy is less. I had read a lot on the MaterniT21 forum and there were several ladies who got a positive result and went on to have a CVS which turned out fine; they had healthy babies. Hopefully that's the case for you. Again, I wish you all the best and hope baby is healthy.

 

[tag74]

I would skip the CVS and go straight to the Amnio. I have been in your exact position before. An amnio is much more accurate and in my opinion, less risky. You can do it as early as 13 weeks despite what some reports say. You'll get results in 24 hours and the full results two weeks later. My situation our son unfortunately had full T18 amongst other complications and we lost him at 20 weeks gestation. I am here to answer any questions you have...I have a lot of knowledge unfortunately on this topic.

Hang in there - we're here for you. xo