Testing and Scanning: How Soon?

[Sakura_Saku]

Hello all,

I'm currently 6 weeks along, and will be going for my next ultrasound this coming Tuesday. I'm very concerned about what the schedule usually is for getting testing done for chromosomal abnormalities. How soon are you screened/tested, and in what order? I've heard of "Quad" testing, I've also heard the general nebulous terms of "screen" and "blood test" in these kinds of threads, but none of them ever seem to get very specific. Would anyone be able to explain what exactly all of the screens and tests are, what they test for, what order they come in, and how they're done?

Of course I've also heard of the the CVS and Amniocentesis tests (those are the final tests that are the most accurate, but also the most dangerous, right?). I've been trying to get as much information as possible on the Amnio, because I'm 38 and I'm guessing that I'm going to have it recommended to me no matter what, so I want it done as soon as possible. I understand the risk of miscarriage, but we've decided that we'd better go through with it, and if I do happen to miscarry (ugh...), better sooner than later, I guess...

I'd really appreciate it very much if anyone would be able to give a little more detail about the specifics of the testing you've gotten or are going to get, just so I know what I'm prepared for. I don't know how on the ball my doctor is going to be where it comes to testing me...He seems to have a bit of an agenda that doesn't entirely match our way of thinking (without going into detail - it doesn't mean I'm nervous about his actual care, or suspect him to be incompetent - FAR from it, he's a great doc!), so just in case he lags, I want to be able to ask for the tests as soon as I can start getting them.

Knowledge is power, right?

Thanks in advance for any help!

 

[Seity]

CVS and amnio are the invasive tests that pose a risk.
I have the NT scan done (done around week 11/12) which checks the thickness of the soft tissue at the base of the neck https://en.wikipedia.org/wiki/Nuchal_scan . There is also the triple or quad screen where they draw blood and test it for signs of Down syndrome, trisomy 18, or spina bifida. https://www.whattoexpect.com/pregnancy/pregnancy-health/prenatal-testing/triple-quad-screen.aspx
I do the non invasive tests to get a risk factor and then decide from there if I feel it's worth one of the more invasive tests. Last time my risk factor was low, so I didn't have the CVS or amnio.
I am offered all these tests at my first appointment and they went over what was involved with each one. I was also offered to have my blood tested for cystic fibrosis, but I declined because there is no reason to suspect I'm a possible carrier.

 

[Nikki_d72]

As far as I know the CVS can be done sooner than the amnio, but has a higher risk, and I don't think amnio can be done till 16 weeks, you may want to check the timings yourself though as well as the relative risks. There are general statistical risks but also specific stats for individual clinics etc as much depends on their experience.

Here you are offered the nuchal translucency scan in conjunction with bloods (the same as the triple or quad screen, I think) that give a risk indicator only, it is not a diagnostic tool but generally speaking if your risks are low on that then further invasive diagnostic testing is not recommended because the risk of the procedure outweighs the risk of having the anomaly. Obviously like anything there are always rare exceptions.

I am still struggling with whether to do the nuchal tests or not because having suffered a midtrimester loss, I just wouldn't want to go down the route of amnio or CVS, and I think given my age (39, 40 at delivery) that the numbers will be quite high so it will be recommended and may just cause further stress in an already terrifying pregnancy. But that's my personal feeling, you need to do what's right for you - I just wanted to make you aware that amnio can't be done early so if the very worst happened, it wouldn't be an early loss. It wasn't amnio that caused my loss, but my waters breaking, which is the risk in amnio and why I wouldn't want to do it - to lose a perfect baby (or babies in my case) through a leak is devastating. I hope you come to the decision that is right for you and get the support you need. I think you should do your own research from reliable sources so you are happy with whatever decision you come to. xx

 

[Darklady]

I think the timing of CVS or amnio testing (as in the latest to do them) depends a lot on where you are, too. Here, they offer IPS testing (bloodwork & u/s done within a set timeframe of each other around 11-13 weeks), and if the risk factor returned from those tests (for trisomy 18, 21, spina bifida and something else I can't remember) is considered 'high' (1/400 or higher, I think) then they'll offer the more invasive testing.

Do you know what the standard tests/timeframes are for Japan? (some countries do NT, some do 'quad screen', some do IPS screening....)

My OB talked to me a bit about test options at my first appointment (which I had earlier than most due to my history and other health risks), basically asking if I wanted IPS screening and saying "if the results of the test won't make any difference to whether or not you carry or terminate... I recommend not doing the test".

Personally, I've opted for IPS screening, but will not proceed to more invasive tests in the case of a "positive" or "high" screen result because I've already lost too many of my kids to risk it... I'm choosing to see it as an opportunity to prepare for the possibility of more parenting challenges, but termination is not an option for me, personally. But it's really something only you can decide.

 

[Sakura_Saku]

Seity, Nikki and Darklady, thank you so much for your replies!
I did try to research all of the tests, but somehow was unable to find any kind of page that gave a general timeline of when testing is offered, and in what order, but your replies helped a lot! It makes a lot more sense now, and thank you for the links, too!

I know the Quad and amnio is done here, but not sure how soon.
I'll ask my doctor when I see him on Tuesday, and see if it's any different from what you all said.

Thanks again!!