Genetic testing timeline?

imagine7696030614 · January 2014

Hello, I'm new here and I have been searching the boards trying to learn more about all the different genetic tests and scans, etc. I am 37 and I have 3 other children but I was younger then and have no idea what I'm in for being an "older mom"...if anyone could give me a general idea of what tests I should be getting (or asking for) and when I should be getting them I'd greatly appreciate. It. I called th OB's office and I won't be seen until I'm 9 weeks...I thought theyd see me sooner since I'm over 35 (and hypothyroid) ....thanks!! Brenda

Ylvelill · January 2014

NT scan is quite common which is done between 11 and 14 weeks. If that shows a high risk for issues another test might be done such as the panorama/mat21.

If something is found there, there will be options for more invasive tests such as amnio.

I am 40 and my doc said that due to my age I was likely to have a bad NT risk number so she ordered the mat21 test right away.

jbelle · January 2014

NOTE: All links except to NIPT companies are to Wikipedia.

Here's my laymen's (and very likely only partially accurate!) understanding of the prenatal risk assessment tests available:

Like @Ylvelill, said, NT Scan is quite common and is done between a fairly specific window of time (11 to 13 or 14 weeks). The NT Scan, or Nuchal translucency screening, https://en.wikipedia.org/wiki/Nuchal_scan is a non-invasive screening done via ultrasound that assess the risk of Down Syndrome (T21), other chromosomal abnormalities, and major congenital heart defects. This test may accompanied by a blood test. Results come as a risk factor (i.e. 1 in 100 or 1 in 5000).

At 10 weeks (9 weeks for Panorama), Non Invasive Prenatal Tests (NIPT) that screen your blood become available (you have to be far enough along in your pregnancy so there's enough material in your blood to test). There are several slight (but potentially important) variations on this test and several commercial names for them: Verifi, Harmony, Panorama (also see: compare your options from Panorama), and MaterniT21 are the ones I've heard of. Once you're far enough into your pregnancy, you can get one of these tests done at any time. These tests map the primary chromosomes of concern (sex, T21, T13 and T18) and provide you with up to 99% accurate results with very low false positive ratings. Some offer testing of even more chromosomal abnormalities than those listed above.

CVS, or chorionic villus sampling, is more invasive than the NT scan, but also more accurate: https://en.wikipedia.org/wiki/Chorionic_villus_sampling Like the NT Scan, it has a window of opportunity, starting at about 10-11 weeks and ending at about 13 weeks.

The triple test or quad screen is a non-invasive prenatal test usually done between 15 and 20 weeks: https://en.wikipedia.org/wiki/Triple_test. This is often done at the same time as the anatomy scan. AFAIK, results from both the quad screen and a/s are analyzed together to give you an idea of your baby's risk factor for certain conditions, such as down syndrome (T21) and neural tube defects like spina bifida and anencephely.

Amniocentesis (https://en.wikipedia.org/wiki/Amniocentesis) is, like the CVS invasive, and, according to our genetic counselor, still the gold standard in prenatal testing. (I think it can't be said to be 100% accurate, but it essentially is). It's usually done between 16 and 22 weeks. It may also be used to determine lung maturity after 30 weeks.

FWIW, we opted to get the NIPT done ASAP, so at 10w I got my blood drawn for Verifi. We had our results by 11w and knew at that point we didn't want to pursue the CVS. However, we wanted those NIPT results back so we could make an educated decision on CVS before we were out of the window of opportunity to have that done (at my hospital that is 12w 6d).

We also opted to skip the NT Scan (lots of people do the NT Scan in addition to a NIPT, however, our counselor said any physical findings wouldn't be confirmed until the anatomy scan). We also opted out of the triple or quad screen, because all our tests have come back typical, but we did have the anatomy scan.

Even though you're AMA, you don't have to have *any* prenatal testing done. YMMV on whether your insurance will cover more testing thanks to your age, but mine seems to not care. It's worth noting that while the risks increase dramatically with age, odds are still well on our side for avoiding any atypical test results.

Sorry this is a little convoluted, but HTH.

QOTR · January 2014

what a great response jbelle! How could we have this made into an announcement so that it remains available at the top of screen for future reference?

imagine7696030614 · January 2014

Wow! Very informative! Thanks so much

Brenda

rae_dylanzmom · January 2014

There are LOTS of topics on this board about testing. (I feel sorry for the 3rd tri ladies who are stuck wading through all of this

). Now that you have @jbelle's primer, you can see how different people apply the tests. There are also lots of bits of info about costs, if you read through the other threads.

Ditto, @QOTR. Would be great to make this an announcement, since so many of us have had these same questions and the NIPT are so much newer.

ETA: Edit. Now I know the emoticon for laughing is : + ) + ).

jbelle · January 2014

I assume the moderator is in charge of sticking posts at the top?

I don't know if mine is the one to become sticky (I'm already thinking "oh I should have listed typical testing windows by each test"!), but I do agree a sticky post about genetic testing options would be great; I know that was my first question when I intro'ed on this board.

Benigrl28 · January 2014

This is awesome information ladies!

QOTR · January 2014

Paging @Ilumine

We would like to create an announcement / sticky for this board that covers the tests that are available for AMA moms. Could you assist by either making this post an announcement or creating a new announcement topic we could add to?

imagine7696030614 · January 2014

I think it would be a great idea to stick this post at the top. I'm actually going to print it out (and redact any user names, etc.) and bring it with me to my first OB appt.

Ilumine · February 2014

QOTR said:

Paging @Ilumine

We would like to create an announcement / sticky for this board that covers the tests that are available for AMA moms. Could you assist by either making this post an announcement or creating a new announcement topic we could add to?

I am so sorry for not replying earlier. Not sure why I did not get the notification that you paged me.

Send me a PM with the information you want and I will set it up.

Again, I am sorry for that.

QOTR · February 2014

@jbelle - I think your post is great, but you have mentioned that you'd like to revise it a bit. Would you like to do that and share with llumine? Or if you don't mind, we can just stick it up as is.

jbelle · February 2014

Thank @QOTR!

I made a few revisions that are hopefully helpful, mainly adding links to various web sites. We can post this one as is, or I can make a new discussion with this post, but either way, I was hoping others would read it over and make suggestions, additions, or changes.

boxermamax2 · February 2014

Thanks for the great info on the testing. I am over 40 so I know my doc will want me to have as many of the diagnostic tests as possible...just hoping to have some that are not so invasive. I have Kaiser insurance which I love and would love to have the materniti21 test but don't know yet if they will do it. I have an appt with the genetic counselor and will be having blood tests and glucon testing done next week so we will see what she says. Will they need a sample of my husbands blood for any of this testing? He travels A LOT for work so just wondering if I will need to have in go in for blood tests when he is home next. Thanks all!

jbelle · February 2014

@karenmarie72: For the MaterniT21, no, they will not need your DH's blood. The only time my DH had his blood drawn was during our fertility testing for the cystic fibrosis screening… I can't think of any other time when he has had his blood drawn--it's all been on lucky me, LOL!

@ilumine: Can we make this post sticky? Or let me know if I should create a new post. Thanks.

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