High Risk Trisomy 18

weaverinc

We found out today that based on my first trimester blood tests we have a 1 in 20 chance that our baby will have Trisomy 18. Our Doctor is recommending an amnio but I have some reservations. I know the risk of miscarriage is low but I don't know that I am willing to take any additional risk at all. The US didn't show any markers. Anyone else dealing with this OR anyone that has had an amnio and can give me some insight? I've been researching all afternoon/night and I think I actually found the end of the internet.

Thanks!

MarchABC

Woke up in the middle of the night and read your post. I have no experience but just wanted to say I'm sending many good thoughts your way.

Based on simply "what would I do?": like you, I'd research the heck out of it. I'm not one for excessive medical intervention (really, who is?) but if you trust your doctor, I would follow his/her lead. Have you read the stats on amnio safety (0.06% loss rate when done between 15-20 weeks?)? For me, knowledge is power. Whatever would give me the best chance of helping my child and making the best decision about his/her health and care would be my course of action. I know that it may be a lesser of two evils scenario.

Again, I'm sorry you are going through this and will think about you and pray for peace.

sla626

That is a tough choice. I fully understand. If your baby does happen to have trisonomy they will need a lot of extra support and monitoring while in the womb so you may want to find out for sure. Also it may ease your mind if it turns out the baby doesn't have trisonomy. Prayers for you that you can come to the right decision for you and your family.

ash413

Can you ask for a free fetal cell genetic testing instead
It is just a blood test for you so no risk to the baby and after 10 weeks it is over 99% accurate. I am doing verifi by progeny but there are several different companies that provide it.

That way you can have piece of mind with a confirmed answer but no risk to the baby.

So sorry you are going through this.

mmk29

ash413 said:

Can you ask for a free fetal cell genetic testing instead
It is just a blood test for you so no risk to the baby and after 10 weeks it is over 99% accurate. I am doing verifi by progeny but there are several different companies that provide it.

That way you can have piece of mind with a confirmed answer but no risk to the baby.

So sorry you are going through this.

This is exactly what I was going to suggest. Good luck with everything!! Thoughts and prayers are with you.

weaverinc

Thanks. I'll ask about the blood test on Monday. I appreciate the information

tugskenyonkel+1

Sending prayers your way hun.
Do whatever you feel is best, but I personally would want to know what I am dealing with.

Knottie36392871

Thinking good thoughts for you and your little one! I just had a CVS yesterday after having a concerning NT scan. For us, it was important to know what we're dealing with as soon as possible. I know an amnio is different than CVS, but from what I know, the risk of miscarriage is slightly lower with amnio and there are more experienced doctors performing them.

The free-cell based DNA tests are highly accurate, but are still only screening tests so they can't tell you if the baby has a specific condition. The only diagnostic tests are an amnio or CVS.

I'm so sorry you are going through this. It's terrifying and hard to know what to do.

kestes946

The DNA tests like Harmony and Maternity21 test for 3 chromosome syndromes, Triosomy 13, 18 and Down Syndrome but those are the only diagnostic testing results. This new test just came out within the last year and is over 99% accurate. Praying for you and hope you can get all the answers you need!

jkerouac

kestes946 said:

The DNA tests like Harmony and Maternity21 test for 3 chromosome syndromes, Triosomy 13, 18 and Down Syndrome but those are the only diagnostic testing results. This new test just came out within the last year and is over 99% accurate. Praying for you and hope you can get all the answers you need!

From this post and the other one we've been chatting on, I'm not sure you are understanding these DNA tests, they are not diagnostic. As @Knottie36392871 says, the only diagnostic tests are amnio and CVS. The cell free DNA tests are great and I've decided to use them instead of getting an amnio or CVS but I know that they are not a 100% yes or no result.

jkerouac

To the OP good luck whatever you decide, I think it's a really good idea to move onto the cell free DNA tests and then depending on how the results come back, you can decide whether to proceed with an Amnio.

OSUJaydee

kestes946 said:

The DNA tests like Harmony and Maternity21 test for 3 chromosome syndromes, Triosomy 13, 18 and Down Syndrome but those are the only diagnostic testing results. This new test just came out within the last year and is over 99% accurate. Praying for you and hope you can get all the answers you need!

What is the name of this test? I just had my genetic counseling at maternal fetal medicine and it wasn't mentioned. Just the cell free fetal DNA tests (Materniti21, Harmony, Panorama, and Verifi) which are not diagnostic though they are more accurate than the older first trimester screening methods. I was told that the only diagnostic tests are a CVS or an amino.

OP, I'm sorry you are going through this. Ask the doctor who would be performing the amino what his/her miscarriage rate is with the tes, perhaps that will set your mind at ease in having it done.

ewhitledge

I think amnio/cvs is the only actual diagnostic test. Not much advice to offer, just well wishes. Good vibes sent your way!

oxley09

When I was pregnant with my first, there were some concerns after our anatomy scan and I was advised to have an amniocentesis to rule out Trisomys and Down Syndrome, and I did decide to do it after meeting would genetic counselors. For me, I needed as much info as possible and I took comfort in knowing that it was a low risk test that could prepare me to better take care of my baby. The amnio itself was pretty straight forward, mostly painless. While my baby was born with some defects that weren't pinpointed by the amnio, the results did give me the peace of mind to know what we WEREN'T dealing with - which was just as important to me.

I also had an amnio with our last child, to test for lung maturity at 38 weeks. Again, simple, quick, and relatively painless - although uncomfortable laying on my back while they did it.

Wishing you the best as you make this decision, and I hope that you get the answers you need one way or another. ❤️

kestes946

I guess my doctors mislead me because that's what I thought they said. I had the harmony test done the spring of 2014 and they told me it tested for the 3 most common genetic abnormalities, as mentioned in my previous post. But yes, the amnio is 100% accurate in diagnosing. Sorry for all the confusion.

Elysag

I had an amnio with my first and I'm having one on Friday with my second. I was very nervous the first time but then it turned out to be not so bad. I looked away so I never saw the needle. Once it went in, I didn't feel it. I did it on a Friday so I could rest over the weekend. I felt better knowing 100% that everything was ok. They can test for even more things now than when I had it the first time 2 years ago. I'm in NYC so the risk is lower than the national average (a lot of people have them here). I know it's scary but it's relatively fast and painless. Good luck!

weaverinc

Thanks for all of the input ladies. I have actually decided to wait until we get back to the mainland (we currently live in Hawaii) to follow up on this. The military hospital here has had one issue after another with my record. They gave me the results above on a Friday, then on Tuesday the same doctor kept calling my telephone asking for Mrs. Riviera (not my name, Weaver is my last name). I got a call in the afternoon from a nurse indicating the doctor had been trying to reach me all day to offer another blood test. I just don't feel that this guy is competent. Something I didn't include in my initial post is that the test I had was a screening yet when he called me to tell me the results the first words out of his mouth were "i am sorry to have to give you this really bad news but your baby has trisomy 18 which is not sustainable with life". Who in their right mind says that to someone over the telephone ESPECIALLY when it's only a screening? I am not disputing the results and that my ratio is 1:20 but that does not indicate that my baby actually does in fact have it.  We went ahead and scheduled a gender ultrasound for next Saturday the 23rd and are going to continue on as normal for now. We move back to the mainland on June 3rd and I will start my medical care with someone there once we arrive.

canalvarado

I'm sorry you are going through this. I know how you feel. I had a normal ultrasound scan but the blood work came back saying I had a 1:30 risk of trisomy 21. It's very confusing and overwhelming. I go to the genetic counselor on Monday so am hoping to get more clarity then, but doctor is pushing for the CVS test. I'm not comfortable with such an invasive test so am having a hard time with figuring out what to do. I'm trying to do as much research as possible before my appointment. It's emotionally tough! I wish you all the best and good luck!

cbolton19

I'm so sorry. Sending good thoughts your way. I don't have any specific experience, but my mom had amnio with my younger brother (he is now 22). Everything ended up fine with the test for her, and she had no complications after. I don't know how much that helps. I hope everything works out for the best.

babysteinsmom

My blood work didn't show a high risk but my US did.  My doctor told me that the Nuchal Translucency on the back of the babies neck is large which puts the risk at 1 in 5 for down syndrome.  I'm having blood work done this week that my doc says is 99% accurate.  I don't know what the name of the test is but I'll be sure to post when I find out!

sla626

babysteinsmom said:

My blood work didn't show a high risk but my US did.  My doctor told me that the Nuchal Translucency on the back of the babies neck is large which puts the risk at 1 in 5 for down syndrome.  I'm having blood work done this week that my doc says is 99% accurate.  I don't know what the name of the test is but I'll be sure to post when I find out!

I had the same risk with my first sone because of his neck fold and he doesn't have Down's syndrome. The materna 21 blood tests showed that. He is supper healthy and happy. Try not to stress.

skabanak

I've had 4 CVS tests done and all were straight forward. Depending on where your placenta is (anterior or posterior) u either get the testing done with a needle through the abdomen just like a amnio, or they can go through your cervix, which is basically like a PAP test you get at your doctors office. I've had all mine done through my cervix and they were pretty straight forward and not too scary!!! Good luck