Confusion with early testing

[westiemom]

Hi! This is my first baby so I basically know nothing. I keep seeing things about NT testing, harmony testing, amnio (I know this is invasive) etc.... We want to do something to make sure our baby is healthy though we will have this baby (God willing) either way. We have done ivf with pgs and most my embryos had chromosomal issues. This pregnancy was a surprise so we are a bit nervous.

What do y'all plan to do? Are these extra or included?

Thanks for explaining this to me!

Here are some dessert apples (gotta be healthy right) for your time!

[Deleted]

Extra for the most part unless you have a history to warrant them, which is sounds like you might. Not sure since it's your first pregnancy how that would work.

I get the NT scan because I have a history of pregnancies with neural tube defects due to MTHFR. Probably won't get any further testing unless something comes up in a scan.

[tincupchalice]

For a normal pregnancy, not really necessary. Your case might be different, as LED said, but I would ask about the blood test - Harmony? I think there are a few. My cousin got it done for both of her pregnancies, but I don't know if she had a medical indication or she just asked for it.

[emc]

I have an autosomal dominant genetic disorder, so we will be doing CVS or amniocentesis to determine if the baby has it. If it does, there are screening tests that need to occur shortly after birth. I think if you are looking at trisomies and Down syndrome screening, you can first do the Harmoni or similar tests and then if those results warrant further testing, you can do opt to do an amnio or CVS. I am not sure though - I am no expert!

[Deleted]

Sept 18, 2015 23:17:17 GMT -5 emc said:

I have an autosomal dominant genetic disorder, so we will be doing CVS or amniocentesis to determine if the baby has it. If it does, there are screening tests that need to occur shortly after birth. I think if you are looking at trisomies and Down syndrome screening, you can first do the Harmoni or similar tests and then if those results warrant further testing, you can do opt to do an amnio or CVS. I am not sure though - I am no expert!

Sammich_Cat, don't you know about this stuff?

[Sammich_Cat]

*trigger warning*
I work in this field, but only as the person doing the tests - not the actual medical stuff. I don't know everything and I'm not a doctor so you'll definitely need to ask your doctor as this is NOT medical advice. But..to give you some idea of what's going on..

In my understanding:
There are two types of laboratory "testing": screenings, and invasive tests.

Screens: Harmony, Quad testing, and other mom's-blood samples are looking for markers in the mother's blood that predict whether there is a problem with the pregnancy. They can give you a probability only, but as they are done on mom's blood, they are completely safe with no risk to the baby. As far as I know, they only cover trisomies (like Downs Syndrome(three copies of chromosome 21) and Edward's syndrome(three copies of chromosome 18) {we normally have two of every chromosome}.

Invasive tests like Amnios and CVSs (chorionic villus sampling) give you more concrete information at the cost of a small risk of miscarriage. They can tell you about smaller abnormalities that can cause problems like Tetrology of Fallot-a heart defect that can be seen on an ultrasound-as well as the large full chromosome abnormalities.
There are two types:
CVSs can be done earlier - 10-12 weeks usually - which is great if the test comes back normal. The problem is if it's an abnormal result. This test draws tissue from the placenta which can have slightly different DNA than the baby, so it's possible that the test may show Trisomy 21, but the baby doesn't actually have it - a false positive. In that case one may opt to do a second procedure - an Amnio.

Amnios - Draw from the amniotic fluid. They are usually done starting at 15-16 weeks (it's not safe to get the amount of fluid you need for the test earlier). This is obviously later than the CVS, but it is absolute. The DNA there is the DNA from the baby. (Can be done by itself and not just as a follow up to other tests or screenings).


Many,many labs are trying to develop tests(instead of screenings) for mom's blood, but I've yet to hear of a true, verified success.

As far as ultrasounds: NT measures the amount of fluid/space in the baby's neck- it is a predictor of downs syndrome - I thought it was standard A/S. In general, I think most ultrasounds look everywhere they can to make sure everything looks normal and if something doesn't look normal then they offer the testing.

Testing is usually covered if they see something on the ultrasound, a screening comes back with a higher probability of problems, genetic history (like family and ancestry), or other known risk factors.


ETA: Nerdy sammichcat feels useful.

[Ruca]

We did the nt scan with DD but my tummy was a little too chubby to get the picture perfect view they were wanting so then we did blood work. That's all we'll be starting out with, if something came up we'd maybe discuss further testing options not sure.

[annarose]

These test are all extra for me, my doctor talked about the blood draw and the NT at 10 weeks. I did not do any of them during my first pregnancy and I probably won't do them this time. There isn't any family history that we know of and my doctor talked to us about the false positives mentioned above. She was of the opinion that because I said I did not want to do an amino that I really shouldn't waste the time and money doing tests before that.

[westiemom]

Sept 18, 2015 23:30:13 GMT -5 Sammich_Cat said:

*trigger warning*
I work in this field, but only as the person doing the tests - not the actual medical stuff. I don't know everything and I'm not a doctor so you'll definitely need to ask your doctor as this is NOT medical advice. But..to give you some idea of what's going on..

In my understanding:
There are two types of laboratory "testing": screenings, and invasive tests.

Screens: Harmony, Quad testing, and other mom's-blood samples are looking for markers in the mother's blood that predict whether there is a problem with the pregnancy. They can give you a probability only, but as they are done on mom's blood, they are completely safe with no risk to the baby. As far as I know, they only cover trisomies (like Downs Syndrome(three copies of chromosome 21) and Edward's syndrome(three copies of chromosome 18) {we normally have two of every chromosome}.

Invasive tests like Amnios and CVSs (chorionic villus sampling) give you more concrete information at the cost of a small risk of miscarriage. They can tell you about smaller abnormalities that can cause problems like Tetrology of Fallot-a heart defect that can be seen on an ultrasound-as well as the large full chromosome abnormalities.
There are two types:
CVSs can be done earlier - 10-12 weeks usually - which is great if the test comes back normal. The problem is if it's an abnormal result. This test draws tissue from the placenta which can have slightly different DNA than the baby, so it's possible that the test may show Trisomy 21, but the baby doesn't actually have it - a false positive. In that case one may opt to do a second procedure - an Amnio.

Amnios - Draw from the amniotic fluid. They are usually done starting at 15-16 weeks (it's not safe to get the amount of fluid you need for the test earlier). This is obviously later than the CVS, but it is absolute. The DNA there is the DNA from the baby. (Can be done by itself and not just as a follow up to other tests or screenings).


Many,many labs are trying to develop tests(instead of screenings) for mom's blood, but I've yet to hear of a true, verified success.

As far as ultrasounds: NT measures the amount of fluid/space in the baby's neck- it is a predictor of downs syndrome - I thought it was standard A/S. In general, I think most ultrasounds look everywhere they can to make sure everything looks normal and if something doesn't look normal then they offer the testing.

Testing is usually covered if they see something on the ultrasound, a screening comes back with a higher probability of problems, genetic history (like family and ancestry), or other known risk factors.


ETA: Nerdy sammichcat feels useful.

Thank you sooooo much! That is so helpful. I definitely plan to ask my doctor but like having a heads up on what's out there! You are an amazing explainer!

[kateisoptimistic]

My last pregnancy was T21 which was found from an abnormal NT scan and then a CVS. Both of those were covered by my insurance. This time I plan to get a blood test like Harmony or Panorama and also an NT scan and if needed a CVS or Amnio. From what I have been told if the blood test is not covered by insurance you usually only have to pay $200 out of pocket. Just talk to your doctor about it if that is the route you decide to take.

[ivedonethisb4]

Last time we did the nt scan and didn't plan on anything else. After it was found later on that the baby had an intestinal blockage we were recommended to get the harmony test done since sometimes blockages occur with other defects in T21. We were also sent for a super good look at her heart at the heart center but since all other testing was normal they said it was unlikely baby had T21 and probable the blockage was a random isolated defect. I assume we will start with the same this time...

[ellesea]

With Ds we opted to do an NT scan which also included a blood draw. I think we might just skip it this time around.

[helloerrbody]

We aren't planning to do any extra testing, unless my midwife sees a concern and recommends it. I have heard of false "possible positives" and I really want to avoid that anxiety.

[fishbulb]

I'm AMA, so we're opting for both the Harmony/MaterniT23 screening and the NTS. With J I just has the NTS. Before we went in for the NTS I read up on what features the technician and doctor were looking for so I felt like I was an active participant in the screening process.