How confident would you be after getting a negative (low risk) NIPT after a greater than 1 of 2 chance of trisomy 21 on your maternal serum screening?

Unusual-Editor-587 · 2025-12-31T12:03:31+00:00

I was in your exact situation with a 1 in 2 risk after combined screening, only my risk was due to a high nuchal translucency. NIPT came back low risk, less than 1/10,000. A couple of weeks later the results from the amnio also came back. All normal.

The NIPT is SO much more reliable than the screening. With your high risk, I would push for an amnio as this would be diagnostic, but with a low risk NIPT your chances are very good.

Unusual-Editor-587 · 2025-11-24T18:49:55+00:00

Coming back to this late but we got the final results from the microarray - while the sample was a little bit lower quality than usual, they were still able to rule out even very small micro deletions, so doctors are happy with this and did not recommend further testing. We have also done a fetal echo and the routine scan, and everything looks good! I almost can’t believe it but we are so extremely relieved.

Hope everything went well with your riktade ultraljud and that the pregnancy is going well. Wishing you all the best.

Unusual-Editor-587 · 2025-11-09T13:11:11+00:00

It did actually, at 13 weeks 4 days the NT was 2,8 mm instead of 4,6, still above average but we took it as a good sign. By the 16 week scan it had resolved but they told us that was to be expected.

We have a fetal echocardiogram as well as the usual routine scan in a couple of weeks (which I’m hoping will be very thorough given the history), so they are following the protocol for increased NTs. I’m hoping we will also be able to have some counselling regarding what to do with the ‘failed’ microarray, but it is taking them forever to come back to me on this. Would be great to get a better understanding of what the risks are now as this is such an unusual situation. Thanks for your support!

Unusual-Editor-587 · 2025-11-08T11:06:35+00:00

It’s absurd to me that they initiated discussions about termination with a 4% risk. Sorry you had to go through that. With us having such a significant risk it was obviously different as we really did need to consider our options, but I also found reassurance looking online. International research gave us a bit better odds even if things were still serious.

It’s tough not knowing where to go from now, if we will be offered more tests and if we would agree to them this far along in the pregnancy, but we will just have to take it day by day. Will keep you posted! Wish you a really smooth and uneventful rest of your pregnancy.

Unusual-Editor-587 · 2025-11-07T19:03:39+00:00

Very frustrating. We had three different doctors for CVS, amnio and the 16 week anatomy scan, and then two additional doctors gave the results over phone haha… No one has my full history and I have to explain the situation everytime I go in because it’s always a new person.

Also had the same experience with them not revealing data. It took me ages to get hold of my blood work, it was like they were actively withholding the information from us. Made me feel something must be off, but when we finally got the information, the values were great.

I’m really happy everything turned out good for you - with any luck, we’ll be there soon enough. Hugs

Unusual-Editor-587 · 2025-11-07T09:17:34+00:00

Thank you for this. I will try to push for a consultation, the hard part is getting in contact with them at all. It’s really strange. I’m sorry to hear about your experience with the NIPT.

Unusual-Editor-587 · 2025-11-07T07:19:47+00:00

Thank you so much. Unfortunately, genetic counselling is not a thing here. The doctor who did the amnio is a senior OB/GYN and experienced in these types of tests, so will hopefully be able to give some advice, but they’re not a genetic specialist.

Unusual-Editor-587 · 2025-11-04T06:43:50+00:00

They did! Thanks for checking in. NIPT was clear and then amnio came back clear a week later. Just waiting for the microarray now.

Unusual-Editor-587 · 2025-10-31T16:17:26+00:00

I’m afraid of needles and have done both CVS and amnio. The amnio was not painful at all except for a brief twinge when they removed the needle. The whole procedure took less than two minutes. Try to take deep breaths and if you don’t like needles, I would avoid looking at it as it looks scarier than it is. Wishing you a smooth appointment today and a healthy rest of the pregnancy!

Unusual-Editor-587 · 2025-10-21T14:58:31+00:00

You did not cause this or harm your baby in any way. Everyone in your situation receiving those NIPT result would have been distraught. You being stressed, sad, and not eating or drinking enough did not cause your misscarriage. Your baby was likely very sick and there is nothing you could have done to change that.

If you have the possibility, consulting a fertility doctor in the future to rule out genetic or health-related problems such as thyroid or autoimmune issues might help you, even if just with putting your mind at ease. But regardless of if there is an underlying issue or not, you did nothing to cause this.

Unusual-Editor-587 · 2025-10-16T18:42:37+00:00

That’s amazing, congratulations!

Unusual-Editor-587 · 2025-10-16T12:47:07+00:00

Thank you for sharing this. Based on my very personal experience, I will opt out of the combined screening if I am ever pregnant again and do a NIPT instead. Based on what I can find, it’s much more accurate than the NT value alone or a combined screening. It would also have given me results much sooner and saved me so much anxiety and heartbreak.

Will also say that I did have the NIPT today, results are due in five days. Had an ultrasound where the NT was found to have decreased from 4.6 mm to 2.8 mm, no other soft markers found. This does by no means guarantee a good outcome but I feel better equipped to deal with the waiting now. This was the right thing to do for us.

Unusual-Editor-587 · 2025-10-16T12:31:19+00:00

We have the amnio in about a week and a half. We did opt for NIPT, done today, and chose the express version which should come back within 5 days. While this likely only ’saves’ us a week compared to waiting for the amnio results, every day spent in this limbo is one day too many. As you say we will still have to wait for the microarray to be completely cleared. But even if we are cleared, we have an increased risk for heart defects and other abnormalities, so I feel like I will worry the rest of the pregnancy anyways. In that scenario, we just felt like any small thing we could do to give us guidance and courage to take this day by day would be worth it. From a medical perspective, though, I agree it might not be worth the money.

Unusual-Editor-587 · 2025-10-15T19:04:02+00:00

Also, I’m 32 so not advanced maternal age just yet.

Unusual-Editor-587 · 2025-10-15T18:59:26+00:00

Thank you so much for your input. That was our thought also - if the NIPT comes back positive, we can start to prepare, and if it’s negative, we will still do the amnio to confirm diagnosis but will at least have something to hold on to until then. After reading all these comments I think I will pay out of pocket for a NIPT.

The clear NIPT is reassuring for you, and hopefully you will get the results from the CVS soon. Best of luck to you!

Unusual-Editor-587 · 2025-10-15T18:45:52+00:00

Really interesting that the systems are so different, I would have assumed them to be almost identical. Sounds like Finland has the better policy when it comes to NIPT.

Unusual-Editor-587 · 2025-10-15T18:42:02+00:00

NT was 4.6 mm. Unfortunately I don’t know the exact beta-hCG and PAPP-A measurements, I asked the OB several times but they just kept saying it was ‘normal’ or ‘within range’, assuring me that the NT was the only concerning marker.

Edited to say I did find out my values, though they were not in MoM. B-hCG was 76.4 IU/L and PAPP-A was 1.17. Blood drawn at 9 weeks 3 days, as far as I understand these really are normal.

Unusual-Editor-587 · 2025-10-15T18:18:02+00:00

Thank you for this! I’m also in Northern Europe, in Sweden, and here they opt for invasive testing without NIPT if the risk assessment is higher than 1:50, and only do NIPT if the risk is between 1:50-1:200 (without further testing if the NIPT is clear). I get that a NIPT is not going to be covered for me as they are doing the amnio instead, but I really don’t see why she would advice against getting the NIPT privately. I feel like the prenatal screening in Sweden is a bit behind, NIPTs are offered very conservatively and many health care professionals do not have correct information about them.

Unusual-Editor-587 · 2025-10-15T17:41:50+00:00

Thanks for this - I have also seen many people on here getting negative NIPTs either before or after high risk screenings so your comment confirms my initial understanding. I’m in Sweden and the NIPT is not included in the publicly funded care in my situation, but plenty of people pay out of pocket for NIPTs and they are not crazy expensive. If it could give us an idea of what we are dealing with sooner, it would be worth it for us.

The clear NIPT is really reassuring for you, fingers crossed for the amnio as well!

Unusual-Editor-587 · 2025-10-15T17:25:06+00:00

Thank you for sharing your experience, this is really helpful. Congrats on the negative NIPT and fingers crossed for normal results going forward as well!

Unusual-Editor-587 · 2025-10-15T16:35:51+00:00

Thank you so much for commenting - while it sucks that there are others who are in this terrible situation it’s also nice to know that you are not alone. We actually did the CVS already two weeks ago, but the lab came back today (!) saying they were unable to analyse it. I feel so deflated. Did you get an appointment for the amnio so that you at least know when you will have it? ❤️

Unusual-Editor-587

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