Cell Free Fetal DNA testing *TW loss*

DragonMom2

Any moms have this test done? I have to get it done because I'm a carrier of Tay Sachs Disease, my youngest son passed away due to this horrible disease. I didn't even know this simple blood test could reveal so much... Anyways my question is, if you had it done how reliable was it in detecting whichever you were getting tested for??? I want to make sure this is the right test to do. Thanks in advance!!

tgortney

I'm so sorry for your loss.

I had it done at 13w3d and this is my first pregnancy. We got it done even though I am low risk and no family history. We just wanted the peace of mind. All came back negative for me, I even got the CF, spina bifida, fragile X done. Also, we did the NT and first/second tri blood work for genetic defects, which also came back negative.

We got the Verifi test through Progenity. One of the perk is finding out the sex of the baby as early as 10 weeks because they look for aneuploidy in the XY chromosomes (along with 18, 21 etc).

We found out we were having a baby boy and turns out, at my 18 week AS, it was correct!

Keep in mind, this test is a screening not diagnostic like amino or CVS.

lillebowski23

I had a cell free DNA screen for chromosomal defects. They gave me the option because I am generally low risk, but am still "elderly primagravada" (over 35). I wanted something less-invasive, however the blood work is only a screen so I will only fall into a low or high risk category for chromosomal abnormalities. Still waiting for
results which take 7-10 business days, so I will know by 12 / 23.

Edit for update:

Dr called on Fridat 12/18 results came back low-risk (yay! ) and we're having a girl (yay!) Wishing similar good news for you!

DrillSergeantCat

I had the Harmony test done because like pp I'm "elderly." It's a simple blood test. I had mine done on Wednesday and had the results the following Monday. It is just a screen, though, so if the test comes back with an elevated risk of chromosomal abnormalities, you'll need either an amniocentesis or CVS to get the full results. 

DragonMom2

Thanks ladies, I'm nervous and scared that Tay Sachs will rear its ugly head again. My SO is not the father to my son that passed but he doesn't know if he is in the ethnic groups that carry the disease and my Dr wants to test for peace of mind. I only want the best for all my children, it sucks big donkey butts that we even have to worry about diseases like this. But thanks ladies so very much!

cmerribury

I think it's smart to do the cell free DNA if you or your SO are at risk of being a carrier. We were also tested for "elderly" reasons (insert massive eyeroll here) and due to previous losses and it was wonderful and did provide the peace of mind I needed. We had Panorama done (the genetic counselor will likely inform you of the test that would make the most sense for you...for me it was Panorama because they tested for triploidy and Harmony did not). 

DragonMom2

I am 100℅ a carrier of the disease. And we aren't sure about my SO.

seasalt123

It's a very simple test. I got it done at 10 weeks and had the result within the week. It gave me peace of mind and I would do it again.

cmerribury

DragonMom2 said:

I am 100℅ a carrier of the disease. And we aren't sure about my SO.

Sorry, I realized I worded my comment really strangely. I meant to say that it's worth if to see if your SO is a carrier since you know you are. The test is really simple, just two small vials of blood. Odds are you'll find he's fine and you'll have peace of mind. I'm sorry for the loss of your child and wish you the very best.

DragonMom2

I asked them if they knew where he could get genetic testing done for cheap because he doesn't have insurance and they didn't. We will just continue with scheduled blood test on January 5. Very nervous but very ready. Thanks soooo much for all of yalls help!!

BostonBaby1

Might I suggest that he get the Councy Family Screening test done? Your OB or MFM should be able to set it up and it costs $99 out-of-pocket. It is a test for over 100 genetic diseases and that would give you a lot of reassurances for any future pregnancy if he is or is not a carrier. You may also want to get the test to see if there's anything else that you carry.

DragonMom2

Thanks, I will mention it at my next appointment