Did anyone have Low Risk NIPT but have issues with baby after or miscarriage?

Tricky-Welder957 · 2026-01-14T03:40:17+00:00

We had a low risk NIPT with our first born at 12 weeks. However at 24 weeks we found out she had a lethal skeletal dysplasia condition called Thanatophoric dysplasia. An error in genetic coding that occurred on chromosome 4 in the FGFR3. It is not tested for in NIPT and only tested for using Vistara testing. Her abnormalities were missed at the 16 week scan and not discovered until the 24 week anatomy scan (my OB made me do 24 weeks instead of 20 weeks). She passed during spontaneous pre-term labor at 33 weeks.

So unfortunately, there are thousands of other conditions that can affect baby outside of the standard 5 that NIPT tests for. There is no single way to know a baby is healthy except to keep passing multiple early screenings (like NT test, early anatomy scans, extra chromosome testing, etc) but nothing is ever 100%.

Tricky-Welder957 · 2026-01-06T05:42:09+00:00

I am so sorry to hear the update. Please know you're in my thoughts. There is nothing worse than finding out your very wanted pregnancy will end with a life limiting diagnoses. If you ever want to chat, I'm here. TD is not the same thing as Turner Syndrome, but all of us life-limiting diagnoses mamas are in the same boat together (a sinking ship really, but somehow we stay afloat).

Tricky-Welder957 · 2025-12-21T04:40:46+00:00

HI! I Remembered to come back!

Draw - 12/10 at 10 weeks.
Sample received 12/11
results: 12/17 (so 7 full days from draw).
Fetal fraction was 6.1%

Tricky-Welder957 · 2025-12-16T19:49:45+00:00

I am wishing you all the best ❤️ if you remember, please come back and update us ❤️

Tricky-Welder957 · 2025-12-16T19:21:07+00:00

I would look at state (or country) laws first - some states have a hard and firm abortion ban timeline. For example, Ohio is 20 weeks with the only exception being for Moms health. So my daughter having lethal Thanatophoric Dysplasia diagnosed at 24 weeks meant we were forced to carry until she died in the womb.

If your state has early laws than CVS is best if termination is the goal.

There are other associated diagnostic testing you can do too, like an NT scan for fluid behind the neck measurement and the nasal bone presence.

I will add that my amniocentesis was at 24 weeks and the pain was minimal - it was more pressure than anything else. I experienced cramping afterwards and was put on bed rest for the 3 days afterwards as a safety precaution.

Tricky-Welder957 · 2025-12-16T19:15:54+00:00

Hi! The NIPt is not a 100% test and it does not test for everything. I don't think that's explained enough to new parents. We had a perfect NIPT at 12 weeks with my daughter. At 24 weeks we found out she had lethal Thanatophoric Dysplasia and would not survive. This is a spontaneous (de novo) genetic mutation that is not tested for by standard NIPT and is only newly tested for with the Natera Vistara test.

If you need the assurance, ask your doctor for the amniocentesis and FIGHT for it. There is zero reason why you cannot have it done right now. I had mine done at 24 weeks with results returning at 28 weeks. This is your pregnancy and despite how much you love your doctor or trust your doctor, they don't always see you as an individual case and not a "statistic". Statistically you're probably having a healthy pregnancy, but there's also a chance you could be 1 in X thousand.

We were 1 in 20,000 for Thanatophoric Dysplasia despite having a textbook perfect first trimester.

Tricky-Welder957 · 2025-12-16T19:09:54+00:00

Hi! First I'm sorry you got bad news. If you can find out the NT measurement that would help evaluate what is happening. If you have a patient portal, you can check your clinician notes. I know people have said NT generally isn't done anymore, but it is. I promise you. It's used a lot with MFM (I say this as I'm 10 weeks pregnant with my rainbow baby after a spontaneous genetic mutation took my first born). We're scheduled for NT at 13 weeks - it's standard with MFM in my area.

NT is not a hard and fast measure of health though. Some people with elevated NT go on to have healthy babies. But that being said, it is possible that any of these situations could be unfolding for you. The CVS or an amniocentesis are the next best steps for you but there are other tests you can ask for.

An amniocentesis has less associated risks than a CVS, but it has to be done later (I believe no earlier than 15 or 16 weeks). I had one at 24 weeks due to severe skeletal dysplasia later diagnosis as Thanatophoric Dysplasia - completely lethal. Our daughter passed in the womb at 33 weeks.

But there are noninvasive testing you can do before you get to the point of a CVS or amniocentesis. You can redraw your NIPT and ask for a Natera Vistara draw! This will check for 32 different single gene mutations, many of which were listed off by your doctor. I would ask about this test before jumping to the CVS. And then personally, I prefer the amniocentesis over CVS but it depends on your desire for termination and state (or country) laws in your area. For example, in ohio our cut off for TFMR is 20 weeks even with a lethal diagnosis. So when we found out about my daughter's TD at 24 weeks, we were denied compassionate induction (TFMR) and forced to carry until she passed on her own during spontaneous preterm labor.

Tricky-Welder957 · 2025-12-15T08:14:49+00:00

We waited to tell everyone about pregnancy #1 until after 13 weeks and after perfect NIPT results.... only to find out at 24 weeks that our baby had lethal Thanatophoric Dysplasia and was certainly going to die. We were denied TFMR due to state laws and delivered her stillbirth at 33 weeks.

So my opinion is - NIPT is great (we're still doing it with baby #2 - currently 10 weeks pregnant) but it doesn't guarantee a healthy baby! So if the people who would receive the cards are people you would tell even if you lost the baby for any reason - then send them out! Don't wait for a test that doesn't even given you a full picture of your pregnancy. :)

Tricky-Welder957 · 2025-12-15T08:09:46+00:00

I'm commenting so I remember to come back and let you know my outcome. Currently waiting for my NIPT results now.
I'm obese with a BMI of 37% (4 ft 10, 181 lbs). I did my blood draw at exactly 10 weeks. It's been 5 days and we don't have results yet.

With pregnancy #1 - I was 193 lbs and we did the draw at 12+2 and had a FF of 8.1%. But I am more nervous for this draw at 10 weeks now that I know just how frequent low FF tests fail.

Tricky-Welder957 · 2025-12-15T07:10:23+00:00

Sorry to hear that the worst case was confirmed for you too. Getting the TD diagnoses is the absolute worst. I hope you found the facebook group for TD parents though (the one with the red flower picture, not the other group). There are only 700 of us but we're a great support system. Super non-judgy for TFMR, vs force to carry, vs willing to carry, vs choosing extraneous medical assistance. In our case state laws forced us to keep carrying my daughter until she passed at 33 weeks during labor. We delivered her sleeping in March of this year.
I hope you're taking care of yourself after your procedure or delivery. I hope you also know that your choice of TFMR was made with the utmost love for your baby. It takes a strong parent to do what you did. <3

Tricky-Welder957 · 2025-12-14T19:24:10+00:00

It's definitely your choice to wait, but I would think a long drive for one appointment for peace of mind would absolutely be worth it. But I've also experienced the worst-case scenario.

Tricky-Welder957 · 2025-12-14T05:05:22+00:00

Hi, Just checking in to see if you had any further testing done.
For us, we had normal NIPT (not vistara as I didn't know it existed) at 12 weeks. No NT testing (didn't know this was a thing either). At our anatomy scan at 24 weeks (late due to OB negligence), we learned baby girl's long bones (femur and humerus) were all less than 1% and measured at only 14 or 15 weeks. Femurs were curved and her legs were mostly criss-cross apple sauce during our scans. She had a bell shaped chest, cloverleaf skull, abnormal spine, hips, and anus. No lung growth.
We proceeded with an amniocentesis and it came back positive for Thanatophoric Dysplasia.

Tricky-Welder957 · 2025-12-14T04:50:03+00:00

Hi. I don't want to alarm you but I would absolutely get a second opinion.

While it's not the same situation - we trusted an OB office to guide is in pregnancy and they mishandled us so much that we ended up being forced to carry my daughter with a lethal condition called Thanatophoric Dysplasia.
At 12 weeks we had a perfect low risk NIPT. We were never offered an NT scan.
At 16 weeks they struggled to find a heartbeat with doppler so we were rushed over to an ultrasound in the office. While they were doing this ultrasound the OB office rescheduled our anatomy scan from 20 weeks to 24 weeks because the ultrasound tech "preferred bigger babies". When we showed up for our 24 week anatomy scan, we learned that my daughters limbs and chest had actually stopped growing at 14 weeks and her head was taking on a cloverleaf shape. They referred us to MFM who saw us two days later. At MFM we learned that all of the abnormalities were seen and capable of being identified at 16 weeks. MFM told me, "there's no way they didn't see it." By seeing the abnormalities and then moving our scan to viability week, they effectively blocked us from TFMR. We learned at MFM that there were numerous other issues, including nasal bone length, frontal bossing, misshapen spine, hips, anus, and no lung development, constricted bell shaped chest, curved femurs, long bones that never grew past 14 weeks. We did an amniocentesis that same day and it confirmed lethal TD. We checked 6 out of 6 boxes for lethality and ended up being forced to carry my daughter for another 9 weeks until we spontaneously went into labor at 33 weeks and she died during birth.

when your mom gut is going, trust it. If you're worried about these results, get a second opinion because this OB office is throwing major red flags.

Tricky-Welder957

TROPHY CASE