Genetic Testing

cyndilouwho77

I am 35 (almost 36) and my Dr. said I was able to have an amnio if I wanted, I explained my huge fear of needles and that I would much rather due alternative testing if it was available.  From these boards I have learned that some places offer certain tests and some have never heard of them.  I live in the state of California and I was sent for California Genetic Testing, so when I checked in at the counter with the lab I started asking questions about the test...she had no clue what exactly what it was testing for and all she could say was birth defects.  She shows me the forms and no joke it tells you nothing about what it actually tests for but that the state of California actually runs the tests and also keeps a record of it.  I need to move the freak out of California!  This is insane, thankfully my RN scheduled my u/s for the 25th so that I will finally get some follow up but I am not sure about the NT scans and others that you have all talked about.  I am so worried that this testing wont be accurate esp since its run by the state....maybe an amnio is the only way to go =(

So worried now =(

nbbride06

It sounds like you need a new doctor rather than to move out of CA.  Here is what the "CA" testing covers (https://www.cdph.ca.gov/programs/pns/Pages/default.aspx).  The NT scan can only be done until 13w6d (so it looks like if you want it, you would have to get it done tomorrow).  There are also blood tests you can do (MaterniT21, Harmony, etc.) which are blood tests that can be done now to give you results for downs and some of the other trisomies.  Your OB really should have gone over all of these options with you.  

peanutmuse

Here's a website with info about the various screening tests California performs: link.  I don't know exactly which program you were part of, but I'm sure the paperwork says it somewhere.

Call your doctor or RN if you have questions about it and can't figure out which tests were performed. That's my suggestion.

peanutmuse

nbbride06:

It sounds like you need a new doctor rather than to move out of CA.   

ITA!

cyndilouwho77

nbbride06:

It sounds like you need a new doctor rather than to move out of CA.  Here is what the "CA" testing covers (https://www.cdph.ca.gov/programs/pns/Pages/default.aspx).  The NT scan can only be done until 13w6d (so it looks like if you want it, you would have to get it done tomorrow).  There are also blood tests you can do (MaterniT21, Harmony, etc.) which are blood tests that can be done now to give you results for downs and some of the other trisomies.  Your OB really should have gone over all of these options with you.  

The only reason I stuck with this Dr. was because he was so good with high risk, I was referred during my last miscarriage.  He is very vague though and usually his Nurse tells me everything.  However she was with a patient and the newbie gave me the info on where to go for the test and didn't have any info.  I actually had to ask him where he delivered at my last apt, because in the beginning he didn't think my pregnancy was going to be viable we kinda skipped over all the first trimester stuff, its been a really weird experience. 

 I don't belong to any programs and my Dr. has been around a long time and I think he tends to be a little old school.  My insurance covers all my testing, all my ultrasounds, and even delivery.  I am going to have to see how these test results come back and go from there!

 

nbbride06

cyndilouwho77:

nbbride06:

It sounds like you need a new doctor rather than to move out of CA.  Here is what the "CA" testing covers (https://www.cdph.ca.gov/programs/pns/Pages/default.aspx).  The NT scan can only be done until 13w6d (so it looks like if you want it, you would have to get it done tomorrow).  There are also blood tests you can do (MaterniT21, Harmony, etc.) which are blood tests that can be done now to give you results for downs and some of the other trisomies.  Your OB really should have gone over all of these options with you.  

The only reason I stuck with this Dr. was because he was so good with high risk, I was referred during my last miscarriage.  He is very vague though and usually his Nurse tells me everything.  However she was with a patient and the newbie gave me the info on where to go for the test and didn't have any info.  I actually had to ask him where he delivered at my last apt, because in the beginning he didn't think my pregnancy was going to be viable we kinda skipped over all the first trimester stuff, its been a really weird experience. 

 I don't belong to any programs and my Dr. has been around a long time and I think he tends to be a little old school.  My insurance covers all my testing, all my ultrasounds, and even delivery.  I am going to have to see how these test results come back and go from there!

 

Just be aware that the screening it sounds like you had and the NT scan/MaterniT21 testing test/screen for completely different things.   

cpm1223

nbbride06:

cyndilouwho77:

nbbride06:

It sounds like you need a new doctor rather than to move out of CA.  Here is what the "CA" testing covers (https://www.cdph.ca.gov/programs/pns/Pages/default.aspx).  The NT scan can only be done until 13w6d (so it looks like if you want it, you would have to get it done tomorrow).  There are also blood tests you can do (MaterniT21, Harmony, etc.) which are blood tests that can be done now to give you results for downs and some of the other trisomies.  Your OB really should have gone over all of these options with you.  

The only reason I stuck with this Dr. was because he was so good with high risk, I was referred during my last miscarriage.  He is very vague though and usually his Nurse tells me everything.  However she was with a patient and the newbie gave me the info on where to go for the test and didn't have any info.  I actually had to ask him where he delivered at my last apt, because in the beginning he didn't think my pregnancy was going to be viable we kinda skipped over all the first trimester stuff, its been a really weird experience. 

 I don't belong to any programs and my Dr. has been around a long time and I think he tends to be a little old school.  My insurance covers all my testing, all my ultrasounds, and even delivery.  I am going to have to see how these test results come back and go from there!

 

Just be aware that the screening it sounds like you had and the NT scan/MaterniT21 testing test/screen for completely different things.   

That's what I'm thinking too. I think most if not all of us had blood work done to test to see what you're a carrier of (cystic fibrosis etc.) and it sounds like that's the blood work you had done, not the blood work that goes along with the NT scan or Mat21 which tests for downs, trisomy etc.

peanutmuse

Let me make this more clear. Your paperwork should say which OPTION of the several different options listed was the testing you had done. Then you can click on the link and see which screenings were done.

I wasn't suggesting you're part of a program. It was just a word to describe the different options, levels, whatever you want to call them that are offered by CA for genetic testing.

CaliCarly77

I am in Los Angeles 

The California test goes with the NT scan, and together they come up with some "probables" and if you are high risk based on those, then you can do the CVS or Amnio. I am only going through with this because it is covered by my insurance. I had the Mat21 test, which I will explain below. 

If you want piece of mind and to rule out any what ifs, get the MaterniT21, verify or Harmony test - they are almost 100% accurate. Mat21 is actually located in San Diego, so we get the results back fairly quickly - usually 7 business days. It is about $200. Worth every penny imo. It is a simple blood test. 

https://www.sequenomcmm.com/home/health-care-professionals/trisomy-21/

I hope that is helpful.  

cyndilouwho77

CaliCarly77:

I am in Los Angeles 

The California test goes with the NT scan, and together they come up with some "probables" and if you are high risk based on those, then you can do the CVS or Amnio. I am only going through with this because it is covered by my insurance. I had the Mat21 test, which I will explain below. 

If you want piece of mind and to rule out any what ifs, get the MaterniT21, verify or Harmony test - they are almost 100% accurate. Mat21 is actually located in San Diego, so we get the results back fairly quickly - usually 7 business days. It is about $200. Worth every penny imo. It is a simple blood test. 

https://www.sequenomcmm.com/home/health-care-professionals/trisomy-21/

I hope that is helpful.  

Thanks that is very helpful!  I knew the test was for birth defects not just for issues with my health and so on, so its nice to know someone else has heard of it and had a better clue as to what it does. 

Piach

Not sure where you went for your screenings, but I am in Orange County as well and here is the booklet that I have gotten with both pregnancies that covers the genetic testing that is available via the state prgram.

https://www.cdph.ca.gov/programs/GDSP/Documents/2013%20Patient%20Booklet%20Consent%20English.pdf

Based on your ticker, it looks like you are missing the timeline for the actual NT scan (if I read your post correctly, you aren't having your ultrasound until July 25th?). So, if you aren't having the NT scan before 14w2d, then you can still have both the first & second trimester screenings (assuming that you gave blood at the appointment you referenced above).

Here's how the screenings went for me.

1. First appointment before 13w6d - A.  fill out paperwork on genetic history, meet with genetic counselor to discuss family history (both you and your signficant other), opt in or opt out of certain specific tests based on family history.  B. Give blood for genetic screenings. C. Have NT scan (ultrasound).

2. Second appointment before 20w - Additional blood test

Feel free to PM me with any specific questions, since I am in your area.

Piach

Sorry - one addtional comment.

Before moving forward with an amnio, please do some research on options and risks. As others have said, there are less invasive options for genetic screenings, although many are not covered by insurance.  You are considered advanced maternal age, so you might get them covered.