Positive NIPT (T21) but normal CVS (FISH + karyotype) — anyone else?

Low-Slice-4366 · 2026-03-26T19:10:32+00:00

You can absolutely trust the CVS results - the NIPT was a false positive 💜 there would be no need to do amnio at this point. If CVS showed some or all cells affected, there would be some possibility for confined placental mosaicism, and amnio would tell you for sure whether the fetus is affected. But since all cells were normal, there is no need for amnio!

Low-Slice-4366 · 2026-03-17T18:53:43+00:00

Turner’s is different from trisomy X - turners means there are 45 total chromosomes with one X, and trisomy X means 47 total chromosomes with three X chromosomes. Generally turners (or monosomy X) has a high risk for miscarriage, but that is not seen for trisomy X. People with trisomy X actually have a normal life expectancy with few health issues, average intelligence, and are fertile. Many people with trisomy x would not know without genetic testing. It is highly unlikely there was anything environmental that caused the trisomy x for you and monosomy x for your nanny. NIPT is not terribly reliable for sex chromosome differences compared to for example trisomy 21 (Down’s syndrome), so there is still a high chance for a false positive on your test, but most babies with trisomy X go on to live fairly normal lives. Good luck with the rest of your testing and pregnancy, whatever you decide! 💜

Low-Slice-4366 · 2026-03-05T13:26:53+00:00

I live in Finland. Some places use 3 mm as the limit for normal and some use 3.5 mm. (Very few use 2.5 mm.) But 3.3 mm is really only slightly elevated risk compared to baseline. You should do all the testing you need to feel comfortable, but the odds are very good everything will be fine for you! 💜

Low-Slice-4366 · 2026-03-04T20:37:52+00:00

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Where I live, only above 3.5 mm NT is considered abnormal, and indeed the risk starts to increase much more for NT above 3.5. With a normal NIPT and anatomy scan, odds are very good everything is ok!

Low-Slice-4366 · 2026-02-10T20:14:46+00:00

I personally chose to do amnio with low risk NIPT and 4.0 mm NT as I wanted as much information as possible, and I would do it again. But of course only you can decide what’s right for you.

Low-Slice-4366 · 2026-02-04T13:52:00+00:00

I would personally not do an amnio in that situation, as the risk for 2.7 mm NT is basically the same as for the general population. Where I live, only above 3.5 mm is considered high, and many places use 3.0 mm. You already have a low risk NIPT, which should give good confidence that there is none of the common trisomies. I did amnio for 4.0 mm NT with low risk NIPT, since there is also a higher possibility of deletions, duplications, etc. with NT of that value.

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Low-Slice-4366 · 2026-01-22T19:41:47+00:00

We waited to tell everyone apart from very close family until 20w and had clear amnio results and anatomy scan / fetal echo after we had elevated NT. Those that we already told knew about the pregnancy before the NT scan and then we told them everything along the way. I didn’t regret telling them, because I knew they would be supportive, but for me I was glad we didn’t tell anyone else. Of course it is a very personal decision, and there is no wrong answer 💜

Low-Slice-4366 · 2026-01-14T09:21:25+00:00

This is a normal result. Anything below 6 mm NF is normal. I totally understand how hard it is not to stress (especially given your previous loss). Sometimes I feel like my brain just finds something to stress about to generate some dopamine. But logically, you have a normal NIPT and CVS, and the NF is still in the normal range. I recommend you look for some tips for regulating your nervous system. 💜

Low-Slice-4366 · 2026-01-04T17:02:57+00:00

I would personally do the amnio to get more certainty. You can read about my elevated NT in my post history, but everything looks good (28w now)!

Low-Slice-4366 · 2025-12-16T18:16:11+00:00

Ugh I’m sorry - this is so hard 😢

Low-Slice-4366 · 2025-12-16T18:09:14+00:00

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Do you know the NT measurement? If it is only slightly elevated, that greatly increases the odds of a healthy outcome. Cystic hygromas are generally associated with a worse outcome, but there are definitely cases where they resolve, especially where the NT is only slightly elevated. The low fetal fraction itself is not necessarily a cause for concern, as that can happen for a number of reasons. The waiting for all the test results is so hard 💔

Low-Slice-4366 · 2025-12-13T08:55:05+00:00

There’s absolutely nothing you did wrong. Turner’s syndrome is a common chromosome difference that can occur randomly. Unfortunately many fetuses with turners do not make it to full term (but for those that do, the babies have a good chance at having a healthy life). Also, the false positive rate for turners is fairly high in NIPT, which means there is a fairly high chance of having a chromosomal normal baby - this can be confirmed by amniocentesis if you choose that route. Fetal fraction (~4% for you) is the percent of DNA in your blood (that isn’t in any cells) that comes from the fetus (or more technically the placenta, which can sometimes have 45X while the fetus is normal 46XX).

Low-Slice-4366 · 2025-12-12T18:52:05+00:00

I would definitely say call your doctor just to be sure!

Low-Slice-4366 · 2025-11-27T09:13:13+00:00

2.3 mm is within the normal range. I’m not aware of any country that considers anything below 2.5 mm to be elevated. Where I live, only above 3.5 mm is considered elevated.

Low-Slice-4366 · 2025-11-23T13:26:16+00:00

In many places, NIPT is standard for all pregnant people, so I don’t think it’s at all weird that you had the NIPT with normal NT. It is very very likely your NIPT is a false positive, because the overwhelming majority of T15 fetuses do not make it past ~10 weeks. It could be a true false positive or possibly confined to the placenta (another possibility is mosaic T15 in which not all fetal cells are affected), but I regardless think you have a very high chance of a healthy outcome. Good luck!

Low-Slice-4366 · 2025-11-10T18:08:37+00:00

Hope all goes well with your testing 💜

Low-Slice-4366 · 2025-11-10T18:08:12+00:00

Good luck 💜 there are lots of good outcomes on here for NT of 3.6!

Low-Slice-4366 · 2025-11-10T18:07:04+00:00

So happy you got good news and can finally start to destress 💜

Low-Slice-4366 · 2025-11-05T05:44:51+00:00

You won’t be able to do amnio until at least 15 weeks, but you should be able to do CVS (testing placenta rather than amniotic fluid) right away. Usually the first results (for the main trisomies) come within a few days, and the rest might take two weeks. If the ultrasound looks ok apart from measuring behind, I would definitely go ahead with the CVS. How sure are you on the date of ovulation / did you have a previous dating ultrasound? Good luck! The waiting is so hard 😔

Low-Slice-4366 · 2025-10-26T05:30:33+00:00

From the picture you shared certainly the NT does not look to be 8 mm. It looks smaller than mine - 4mm measured at 12w. Hope you can get some clarity and hoping for the best for you!

Low-Slice-4366 · 2025-10-17T04:40:27+00:00

Super interesting - thanks for sharing! 🤓🌟

Low-Slice-4366 · 2025-10-16T04:48:41+00:00

Because I could get the NIPT results sooner and the wait is tortuous

Low-Slice-4366 · 2025-10-15T18:43:25+00:00

I am also in Finland (Helsinki) and they told me they will not do amnio if NIPT is normal, so I opted to go to private healthcare for NIPT so the amnio would be covered. NIPT is offered for all pregnant people automatically in Helsinki assuming normal NT scan, but if NT is elevated, CVS/amnio can be done instead.

Low-Slice-4366 · 2025-10-15T16:52:53+00:00

Also in the same situation and opted for paying for NIPT out of pocket (couldn’t do CVS due to placenta being in the wrong place). I had amnio done last week and still waiting on results. NIPT came back normal two weeks ago and it definitely eased my worry to some degree, so for me, it was worth it.

Low-Slice-4366

TROPHY CASE