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Glad to see this thread! The U/S went okay?

I think I did either the FTS or IPS I'm not sure how many blood draws I got.

My doctor only recommended NIPT for people that were at risk for birth defects (family history) or for advance maternal age (AMA) aka older than 35.

For my DD, I did IPS and that came back low risk as I was expecting it to with no known risks and <35. I didn't even know about NIPT at the time, and it was likely just beginning to circulate then.

For my next pregnancy we did IPS again and then all hell broke loose. Since the second blood test isn't until 15 weeks, I was 16 weeks when we found out we screened positive for T18, Edward's Syndrome. We were given the options amnio and NIPT and we decided to do NIPT, still thinking that there was no way anything was wrong. NIPT came back positive for Turner's Syndrome (45XO) at 18 weeks. Then for confirmation, we did the amnio and it was well after 20 weeks when we got our final confirmation of TS. Seriously hell. Again, I had no risk factors, but that particular genetic condition has no risk factors.

This time I went straight to NIPT. I don't want to sway you either way, just wanted to share what happened to me.

Yea I just want to chime in as well that the NIPT is not a diagnostic test and you would still need to do an amnio to verify any potential issues that came up.

We did the NIPT test, were told that results were unclear but there was possibility of turner syndrome. We were referred to a MFM to do an amnio. At the appointment (first met with Dr.) we decided not to proceed with the amnio. I seriously don't know how we did it, but we proceeded thru the pregnancy as if all was normal and our daughter was born perfect and does not have TS.

In our case, it really seemed like a murky possibility the way they explained it to us and in doing research online I found many cases of false positives for Turner Syndrome in particular. Maybe we were being overly optimistic but it worked out in the end.

We will not do the NIPT again, in particular bc according to the MFM Dr. it could have been just an issue with me that it was picking up on and so I would not want to go through that again.

ETA: The statistics published for the NIPT tests are for women 35 and older. As far as I know, it is unclear whether women under that age will have the same results. Like you, I was interested in the test even though I was only 30 bc I thought it would give quick and clear results. Just wanted to add my experience bc that was definitely not the case for me!

We did NIPT. We had a history of birth defects and wanted a much information as possible (even though our issue wouldn't have shown up on a screening). I also knew I would have serious gender disappointment if it was a boy (having lost a girl), so I wanted to know as early as possible to have time to process. I was very happy with the NIPT and will do it again in the future.

The only thing I was offering was IPS both pregnancies (two different doctors)

With my first two, I did IPS. With this third baby, we chose NIPT test because I'm 35, it's covered, and more definitive.

@Goldengirl: After 4 MC's, one of which was positive for Turner's, I went for the Verifi NIPT with my last (healthy) pregnancy in conjunction with the nuchal scan. Getting that peace of mind when the results came back with the lowest possible odds was worth every cent out of pocket. I'm currently 7 weeks pregnant, and if I make it to 10 weeks I'll do it again in a heartbeat.

@QBbride: @Ms.Badger: where are you finding out about false positive rates for these tests? I remember looking it up when we had it done and it was less than 5% I think...

@Goldengirl: I did MaterniT21 and Panorama. I liked that MT21's odds went as low as 40,000:1. Panorama I was able to do earlier (though some people have mixed results) and the results came back as 10,000:1, which is their lowest. Oh and I didn't have to pay because I was over 35 both times.

Great question! I work in an adjacent branch of medicine, so I hear a lot about prenatal screening. I agree that FTS or NIPT/NIPS makes more sense than IPS/MSS/quad screens/etc.

The most important thing to realize is that these are ALL screening tests, not diagnostic tests. They all have false positives and false negatives and any positive result should be followed up with diagnostic testing through amnio or testing after birth.

The benefit of FTS is that it can be more likely to be covered by insurance (though not always). Plus the nuchal (NT) measurement screens for more than just chromosome disorders.

The benefit of NIPT/NIPS is that it has a higher detection rate for chromosome disorders than any other type of screening. That means that getting a negative result will be more reasurring. HOWEVER, in low risk women (young women without known chromosome issues) NIPT/NIPS can have a low positive predictive value, which basically means that if you're low risk and you get a positive result, there's a good chance it's a false positive, especially depending on which chromosome disorder your NIPT/NIPS is positive for. That's why you have to follow up with diagnostic testing.

For me, I am very familiar with the risk of a false positive and was confident that I wouldn't freak out if I got a false positive. I actually ran my personal risk figures (based on my age, gestational age, and the lab's reported sensitivity/specificity) prior to doing the testing. At 32 years old and 10 weeks pregnant my positive predictive value for Down syndrome was 62%, for Trisomy 18 was 20% and for Trisomy 13 was 24%. So I knew that a negative was very reassuring, but a positive had a good chance of being false, so if I got a positive, I'd just consider it an indeterminate result until I could get an amnio. Luckily my NIPT/NIPS was normal, so I didn't have to do any follow up and had some peace of mind for the rest of the pregnancy.

Also, it might be worth contacting the NIPS/NIPT lab and seeing if they have any price breaks for women whose insurance doesn't cover testing, many do.

@Ms.Badger: When you say "genetic counseling" do you mean talking with someone from the testing company after you receive your test results? And do you suggest doing that if the test results came back no/low risk for what was being tested?

@Ms.Badger: Thanks for that info. The genetic company that processed my test, Recombine, called me a few times about setting up a phone call to discuss the results. But my results were okay and I didn't feel it was worth the call. Should I reconsider? Do you think there is something that I could be missing?

@Ms.Badger: Thanks for all of this info!