genetic testing

[cierramommy]

Anyone over 35 not getting genetic testing? My husband and I are torn over it. I had my first baby at 33 and all was fine. This time I am 37. Advice?

 

[kel21]

I am not getting tested either. If my 20 week scan shows something I probably would just so we can be prepared, but other than that I am just not going to stress! I will be 38 when this lo is born.

 

[StranjeGirl]

Which test are you talking about? I was 36 and got the ultrasound done and the blood work to give you your odds, but did not do an amnio. Now they can do a simple blood test at 10-11 weeks to tell you if there are any trisomy issues with the same accuracy as an amnio. If I get pg again I will do that so I am prepared if there are any issues.

 

[Nikko88]

I have a background in genetics/development, this is our first - probably only- and it was covered by insurance, so we opted for the blood-based genetic testing. It was a relief to know everything was developing normally and to get the gender.

However, it's a personal decision and there's nothing wrong with not getting tested.

 

[Jencocoa]

I opted out of all. Won't change what I do so no point. I prefer to skip the risk, enjoy the pregnancy, and leave it I'm gods hands.

 

[Jencocoa]

My midwife said that patients of hers who got it and got bad news regretted it because it ruined their preg and they were no more prepared. Thought that was interesting

 

[wookie130]

I am 35, and opted to get the MaterniT21 test done at 12 weeks. Much to my relief, the results showed a healthy baby boy. Now, after my 20 week scan, I've learned that we actually have a SUA baby (single umbilical artery, also known as a two-vessel cord), which can be a soft marker for certain issues with the baby. However, since I've my MaterniT21 tests came back normal, we know that it is not likely that baby boy has chromosomal/genetic defects...I'm having a Level 2 ultrasound done on Thursday of this week, so we'll see. Now that this has come up, I am very thankful I had some genetic screening done beforehand.

 

[SonAmyMom]

We're debating over it, too. I'm 36, will be 37 when baby comes. We wouldn't terminate anyway, but at the same time, it would be nice to have time to prepare.

With my last pregnancy, the regular tri-screen blood test came back high AFP (risk factor for SB). We had u/s and determined everything was ok, but I do remember the panicky, sad feelings for that long weekend wait, and I don't want to feel that way again. But the reassurance (and with MaterniT21, knowing the gender) would be nice. If all comes back well...

 

[Warby]

I am 35, and opted to get the MaterniT21 test done at 12 weeks. Much to my relief, the results showed a healthy baby boy. Now, after my 20 week scan, I've learned that we actually have a SUA baby (single umbilical artery, also known as a two-vessel cord), which can be a soft marker for certain issues with the baby. However, since I've my MaterniT21 tests came back normal, we know that it is not likely that baby boy has chromosomal/genetic defects...I'm having a Level 2 ultrasound done on Thursday of this week, so we'll see. Now that this has come up, I am very thankful I had some genetic screening done beforehand.

I had a similar experience. I was 33 and pregnant with my third. The only tests I had were ultrasounds. I had the nuchal ultrasound at around 12 weeks and the results indicated an extremely low risk of genetic abnormalities. At my 18 week ultrasound, they noted a "shadow" on the baby's heart. As my doctor explained, in the vast majority of cases it is nothing, but occasionally it is an indicator of a genetic problem. I was in a panic at first but then calmed down when I remember my good results from the nuchal screening.

 

[jzgrace]

I have a background in genetics/development, this is our first - probably only- and it was covered by insurance, so we opted for the blood-based genetic testing. It was a relief to know everything was developing normally and to get the gender.

However, it's a personal decision and there's nothing wrong with not getting tested.

Hi Nikko! I just read your post here and was wondering if the test you had was materni21? This is the test I was offered at my first ob appt. I set an appt but was and am still unsure about following through. If this is the test you had how accurate do you think it will be ? (I'd trust your opinion given your background) Is this test also able to confirm gender?

 

[Nikko88]

I also posted in your other thread. I had the MaterniT21 test. It's 100% accurate for the genetic abnormalities it tests for. Either the baby has the extra chromosomes/micro-deletions or not.

It cannot screen for other abnormalities that arise in utero due to non-genetic factors. Additionally, there may be other more rare genetic abnormalities that occur that are not apart of the panel.

It offered me peace of mind that the other morphology diagnostics and QUAD tests cannot. They tell you risk (1/#) whereas the MaterniT21 test is a yes/no for the mutations it tests for.

The test does reveal gender, but you can opt not to know. Results were back in less than a week with only an arm blood draw to retrieve the cells.

All prenatal testing is a matter of choice. Let me know if you have any questions.

 

[jzgrace]

I also posted in your other thread. I had the MaterniT21 test. It's 100% accurate for the genetic abnormalities it tests for. Either the baby has the extra chromosomes/micro-deletions or not.

It cannot screen for other abnormalities that arise in utero due to non-genetic factors. Additionally, there may be other more rare genetic abnormalities that occur that are not apart of the panel.

It offered me peace of mind that the other morphology diagnostics and QUAD tests cannot. They tell you risk (1/#) whereas the MaterniT21 test is a yes/no for the mutations it tests for.

The test does reveal gender, but you can opt not to know. Results were back in less than a week with only an arm blood draw to retrieve the cells.

All prenatal testing is a matter of choice. Let me know if you have any questions.

Oh thank you Nikko! I do actually have a question or two. What tests should I request for non-genetic abnormalities. I may be worrying too much about this. But I'd like to be prepared. I'm almost 35, I do have two healthy children 10&15. But I was so much younger when pregnant and there is so much more info that I'm aware of online now adays. And it is all so scary to me. My midwife did say that my bloods came back perfect. She said "well jenny your blood tests came back perfect!" I usually don't like being called jenny but it felt warm and comforting when she said it. Lol Also should I just ask for the yes/no answer or is that the only way they answer. I don't like the ratio type answer.that's why I ask. Thank you for your replies. This forum is wonderful!!

 

[Nikko88]

Non-genetic abnormalities will be picked up on later ultrasounds. The 20 week scan is a big one for picking up problems with bone growth, basic heart development, kidney development and function, brain development etc. I actually just got back from my 19/20 week scan. Very cool to be able to see all the different structures.

I may have to go back in a month or so because of a echo in the heart that is most likely nothing and will resolve. If it doesn't, it could become a concern (potential heart tumor).

Later ultrasounds will confirm continued normal development and watch for other in utero problems.

I opted not to do the QUAD test that looks for spinal/cerebral fluid and other components in mom's blood that would indicate spinal issues. This is a test for soft markers (things that may indicate a problem or not, like the echo on my baby's heart) for chromosomal abnormalities. Since I had done the genetic testing and the QUAD test would have to be followed up at the 20 week scan, I didn't feel it would give me any more info.

Talk to your medical provider to see what tests they would offer you. For me, the genetic tests and ultrasounds cover all the bases.

As far as I am aware, results are usually no abnormalities or some concern requiring follow up. But if your baby has an extra chromosome it means trouble. If you baby has a particular micro deletion, a genetic counselor can give you an idea of the range of health problems you would expect.

The extent of the outcome will vary. Look at Down syndrome. The range of severity is really large. There are many functional and independent people with Down. However, knowing a baby has Down would give the parents and doctors a heads up to keep an eye on cardiac development and prepare for the needed neonatal care.

So even if there is a hit on the genetic screen it doesn't have to mean an automatic termination. It really depends on how severe the baby is affected and how the parents feel about caring for a special needs baby.

 

[jzgrace]

I will talk with my midwife when they do the blood work for m21. I think I'm gonna just do like you did and do the m21 and ultrasounds. Is there any result that would make them suggest termination? Cause I don't see that as an option. I will be destroyed if that were to happen.

 

[jzgrace]

I will keep you and baby in my prayers. Do you get a lot if people constantly asking you questions? I hope I'm not bothering you.

 

[Nikko88]

All a genetic counselor can do is give you information, options and follow up.

The worse genetic abnormalities would have resulted in a failure of development before now. Most of the ones that would be detected from here on out will affect the development of organs and systems (heart, brain, kidneys etc.), complications with carrying to term, chances of survival beyond birth, level of care needed for the rest of life etc.

I wouldn't recommend looking into the worse genetic abnormalities. They can be pretty scary. But rare. I already know what they are because I read about them in mouse models every day.

Chances are there's nothing wrong with your little one.

 

[Nikko88]

Nope I don't get many questions. The sonographers on the board get a lot more and are great about reassuring mommies-to-be about read-outs and potential concerns.

Most of us worry too much but what else are we going to do?

 

[jzgrace]

Lol you're right. I guess its part of our job to worry. Well you've been great in helping reassure me so thank you very much! I'm looking forward to finding out the gender too. I've seen a lot of people here say that its not very accurate. Not sure the accuracy percentage on the gender are ya? I'm soooooo sorry to keep asking questions!

 

[Nikko88]

Genetic testing for gender is near 100% as with the other genetic screens. There are some exceptions of having an XX male or XY female but these are rare genetic abnormalities and usually come with their own complications.

Here's the accuracy information for the MaterniT21 test:
https://laboratories.sequenom.com/maternit21plus/maternit21-plus-better-results-born-better-science

An interesting article that explains the test:
https://sandiegobiotechnology.com/t...uenom-test-for-down-syndrome-highly-accurate/

At any rate, the 20 week scan is pretty good at showing gender as long as the little one cooperates.

 

[mommasamittc]

I had my 3rd son last year (37 years old). My Quad screen came back 1:25 for downs. I had a level II u/s, panicked and cried for a couple weeks only to find out our little peanut was perfect. I'm now 4 weeks pregnant with #4 and will not be getting the quad screen this time. Where I'm located, the Mat21 test is $400. I just wasn't willing to shell that out. I totally understand why women do though. And my understanding is that it will give you gender too. Just depends on the lab that does it.