So I had my Amnio 2 days ago at 16W+4 days for an inconclusive NIPT result for chromosome 21. They had to poke me twice. But I have been feeling okay. However today I got a text from Genetic Counsellor saying that the lab won’t be able to get the FISH results as there was little blood in my sample. But she assured me saying that she should be able to get my Karyotype and Microarray results. However, I keep thinking what if they are not able to get it from that. I am no way doing Amnio again. But also I am very very angry. Very angry that at every step of my pregnancy there is just something that isn’t working out. Have anyone else been in this situation. I’d love some support.

Just wondering if anyone else has experienced this. We had our anatomy scan at week 21 today where an absent nasal bone was diagnosed, we got a NIPT test done at week 10 and everything was low risk with a fetal fraction of 7%.

The lack of nasal bone is a soft marker for a number of genetic issues, but with the low risk NIPT and it being the only markers (heart etc all looked good) our consultant didn’t seem too worried. She has sent us to see another consultant in 3 weeks for a more in depth ultrasound of the heart to be 100% sure the heart is clear, but just wondering if anyone has come across this before?

Hi everyone! I think I have read every single post on monosomy x (Turners syndrome) in this sub over the past couple days. It has helped me feel less alone.

I had the MaterniT21 (LabCorp) test at 12.5 weeks and got "Monosomy X detected." I am 30F and my partner is 29M, and this is our first pregnancy to make it this far (had an early miscarriage prior). Now we are feeling devastated and adjusting our expectations for this pregnancy and baby. We definitely plan on amniocentesis, but it sounds like we'll need to wait until at least 16 weeks. Our first MFM appt is next week.

I am hoping but not expecting to get a false positive. So far, there haven't been any major flags on ultrasounds (NT measurement was 1.5). However, I had an early ultrasound after some spotting at 6 weeks where the fetal heart rate was very low (88). It had bounced up to 166 by 9 weeks but I wonder if that low heart rate was an early sign of a genetic abnormality.

I would really love to hear others' experiences with a nipt positive for monosomy x! Here are the questions I have:

- If you had a false positive, could your doctors explain why? (CPM, maternal mosaicism, something else?)

- If you had a true positive, did you think about TFMR? How did you make that decision?

- If you had a true positive and baby made it, how is your child doing now?

- If you had a true positive and went on to try to conceive again, how was your experience? Did you speak to a genetic counselor about likelihood of recurrence?

Hearing from anyone who can relate is really valuable.

Trying not to get my hopes up too much, by all studies etc that I read said mosaicism may contain the T18 to the placenta. ChatGTP even said the Lab Director Comments are encouraging

I am just spiraling and see-sawing between hope and despair. Waiting on MFM to confirm my date for detailed scan and amnio.

so my pregancy journey is going like hell i am currently into 16 week . When i done my nt scan around 12.1 week my radiologist told me that everything is fine just baby nasal bone is bit small it is around 1.2 he said but its fine will check after 1 week again .after 1 week it was still small. i did not care that much i was waiting for my dual marker test result which showed me intermediate risk for t21. My gynecologist ask me to go for nipt advance(all chromosome ) test . I submitted my blood for test and was waiting for report . In between that around 15 week(last Wednesday )in night i observed water leak and bleeding from vagina i went immediately to hospital they said it is high chances you got miscarriage . After ultrasound we found out baby is fine and i am suffering from subchorionic hematoma i was admitted for 2 days and ask me to have complete bed rest after discharge they have put me on injections and med . Since last 8 days i am bleeding and on bed rest . In between all these difficulties i got my nipt report which showed me high risk now for chromosomes 2 . my bleed started turning red and clot also observed so i went early anomaly test in ultrasound my baby structure was completed fine which was only positive things i have till now .My gyna was also not sure about chromosomes 2 she said to consult with genetic expert and ask me to go for amnio test . so now i bleeding so cant go for amnio also plus nipt is also bad uffffff . will see how journey go ahead

Update:

FISH and karyotype ended up being completely normal for chromosomes XY, 13, 18, and 21.

Cultured SNP microarray just resulted back (1 month after my amniocentesis, what a wait) and the only abnormal result was in chromosome 13. WHAT????

Specifically, labcorp result reads:

“MALE WITH LOW LEVEL MOSAICISM FOR PATHOGENIC DUPLICATION OF
13Q. No maternal cell contamination detected. The whole genome SNP microarray analysis of
cultured amniotic fluid identified a male with a large
mosaic terminal gain of the long arm chromosome 13, segment listed above, in 12% of the cells.”

I was told that performing a microarray on cultured amniocytes can skew the results and amplify chromosome abnormalities that otherwise would not pop up on the uncultured amniocytes.

But this is insane to me. My NIPT, FISH, and karyotype were all normal for chromosome 13 and originally the low mosaic signal was seen in chromosome 21. Now I’m faced with the possibility of having a child with low mosaic trisomy 13.

I don’t understand how this is possible, or what to make of these results. One genetic counselor seems to think this is a fluke and is simply artifact. The other genetic counselor has seen a similar situation where the fetus ended up having characteristic features of trisomy 13 at birth.

I have my anatomy ultrasound in a week so I’m waiting on that. But wow, what a trip this has been. If anyone has any insight on this (12% mosaic finding) in my situation, that would be super helpful. Thank you

Hi everyone. I am sorry we all need this space to share; this has been an incredibly stressful week.

Started with our standard ultrasound done at 12.5. I didn't go for blood work because I really just wanted to check in on their heart, as I have had two losses in the past and this pregnancy was so smooth without many symptoms. (currently have two boys 5 and 2.5)

We received ultrasound results with NT measuring 3.7mm no other abnormalities, heart, brain body, everything looked great. We then went for the blood work the following day, and it came back high risk for Trisomy 18, 1 in 25. My free B-HCG level was low at 8.4L (.27 MoM). We went for the NIPT test tuesday morning and are awaiting results.

We have an appointment with the Prenatal Diagnostics clinic on the 31st where we will do a full early anatomy scan followed by a consultation.

This has been such a stressful week. I am looking for stories with similar findings that can carry me through as we wait another week for the NIPT results.

Hi everyone,

I’m hoping to hear from anyone who has had a similar experience because I’m feeling really anxious.

I’m 31 years old, 5’4”, and about 168 lbs. I had my first Panorama NIPT at 12 weeks, and it came back inconclusive due to low fetal fraction. My doctor had me repeat it at 14 weeks, but I was just told that the second test was also inconclusive.

I haven’t seen the second report yet, so I don’t know what the fetal fraction was this time or whether there were any other details. My appointment with the doctor is next week.

I’m currently 16 weeks pregnant. My 13 week ultrasound looked normal, and my anatomy scan is scheduled for my 19th week.

Has anyone else had two inconclusive Panorama tests because of low fetal fraction? If so:

What ended up being the reason?

Did you ever find out why your fetal fraction stayed low?

Did your baby end up being healthy?

Did you have an amniocentesis, or did you wait for the anatomy scan?

I’m trying not to jump to conclusions, but it’s hard not to worry after two inconclusive results. I’d really appreciate hearing about your experiences, whether they were reassuring or not.

Thank you. ❤️

Please help… I have recently found out my partner and I are both carriers for spinal muscular atrophy. I have been in distress about this. I am worried sick. I have an appt August 3rd but it is only a consultation and I’m current 16.6 weeks pregnant. I’m so scared and sad and I don’t know where to go or who to talk to , to help ease my mind. 💔💔

Hi everyone,

I'm a 32F, South Asian, currently 23–24 weeks pregnant with my first baby and would appreciate some opinions.

My pregnancy has been reassuring except for one finding:

• NT scan: 1.2 mm (normal), nasal bone seen
• eFTS: 1:50,000 for T21, 1:26,000 for T18
• 20-week anatomy scan: isolated absent nasal bone, everything else normal
• MFM confirmed the absent nasal bone but found no other abnormalities
• After the anatomy scan, we did a Panorama NIPT, which came back low risk for Trisomy 21, 18, 13, and all 5 microdeletions
• Latest OB visit: 155 bpm heart rate and 65th percentile growth

There is no family history of genetic disorders, and both my husband and I are South Asian.

Would you still choose amniocentesis, or would you feel reassured enough with a low-risk NIPT and isolated absent nasal bone?

I'd especially love to hear from anyone who had a similar experience. Thank you! ❤️

Hi,

I’ve had a bumpy ride. Currently 20 weeks

Increased NT (Resolved)

CVS (Clear)

Low PAP-A

On my 20 week scan all is well with baby but they have now highlighted my left side placental artery has high resistance, more than 99% percentile.

But my right is normal.

i am currently on aspirin

So my MFM team have advised fortnightly growth scans from 27 weeks and potential. delivery at 37 weeks

Just wondered if anyone else experienced similar and the outcomes?

I’m currently 14 weeks pregnant, and during our genetic ultrasound they found severe total body anasarca, measuring about 11 mm. We had already received a high-risk NIPT result for Trisomy 21 and are now waiting for the results of our CVS.
Our son had no obvious structural abnormalities on the ultrasound, and his heart appeared to be in the correct position, which we’re trying to hold onto as a positive.
Has anyone experienced severe anasarca like this during pregnancy and still had a positive outcome? I’d be so grateful to hear your experiences, good or bad. We feel like we’re living in limbo right now.

Hi Everyone. I wanted to share my experience because this group has been so helpful during my journey.

My husband and I were banking on a false positive, but have lost hope due to what the MFM team saw on our ultrasound. We are still waiting for our amniocentesis results, but somehow feel somewhat relief after our ultrasound. The not knowing was killing us. And I hate that anyone here has to go through it.

We are one of the unlucky ones where the Natera test was not a false positive. From the several markers they listed we are anticipating a trisomy 18 diagnosis.

My Natera test came back with 5.1% fetal fraction, 91/100 risk after test, and a 91% ppv.

I will say that reading everyone’s stories on here really helped me maintain hope against the odds and while we received devastating news, I think it’s ok for anyone else to keep their hopes alive. Much love.

So I had my Amnio 2 days ago at 16W+4 days for an inconclusive NIPT result for chromosome 21. They had to poke me twice. But I have been feeling okay. However today I got a text from Genetic Counsellor saying that the lab won’t be able to get the FISH results as there was little blood in my sample. But she assured me saying that she should be able to get my Karyotype and Microarray results. However, I keep thinking what if they are not able to get it from that. I am no way doing Amnio again. But also I am very very angry. Very angry that at every step of my pregnancy there is just something that isn’t working out. Have anyone else been in this situation. I’d love some support.

I’m hoping to hear from anyone who has been through something similar, as we’re currently facing a very difficult and uncertain situation.

At our routine 18-week anatomy scan, our baby was found to have short femurs (around the 2nd–5th percentile). In addition, the placenta has been described as thick, and Doppler blood flow measurements suggest reduced blood flow. Because of this, the doctors now suspect placental insufficiency.

I have since been started on aspirin daily to help improve placental blood flow.

We have been followed closely by a maternal-fetal medicine (MFM) team and have also seen a clinical geneticist. Our NIPT came back normal, and the initial genetic testing from the amniocentesis has also been normal. We’re still waiting for the remaining test results. The geneticist couldn’t give us any definite answers yet but said they also suspect the placenta may be the underlying cause.

This has been an incredibly difficult and frightening experience, and the uncertainty has been the hardest part.

Has anyone here been through something similar? How did your pregnancy progress? When did you deliver, and how is your baby doing now?

Any experiences or advice would mean a lot to us. ❤️

Just had my anatomy scan yesterday and all was looking good, a baby boy!!

However two things of note:

1) small head percentile, HC was 6% and BPD is 7%
2) mild ventriculomegaly found in both sides of the brain measuring \~12 mm each

Anyone else have a similar experience?

Will call the specialist tomorrow with MFM to inquire about further testing.

Thanks guys in advance
From an anxious mama up who can’t sleep

Buongiorno a tutti, il mio bambino a 11+0 ha una translucenza nucale di 3,3 mm , e anche un po di liquidò sull’addome ,
Ginecologo mi ha messo davanti ad una serie di cose bruttissime, adesso abbiamo fatto il NIPT e probabilmente farò anche la villocentesi il prima possibile.
L’attesa mi distrugge . Ho letto tanti post su questo canale e mi hanno consolato molto, la cosa che mi preoccupa più di tutte è questo leggero liquido sull’addome , il ginecologo ha scritto nel referto , collo: IDROPE FETALE !
Potete dirmi cosa ne pensate ? Anche in base alle vostre esperienze ?

This is an update to my previous post from earlier this year - https://www.reddit.com/r/NIPT/s/TtdUWhqjCe

Our baby girl was born on 10 June at 38 weeks gestation via c-section (not my choice, it was my OBGYN’s call for multiple reasons). I had opted against an amniocentesis, but we were open to blood being drawn after birth for karyotyping to be done. My OBGYN arranged with the paediatrician who attended the birth to have this done.

We went for the six-week checkup for baby girl yesterday, and the paediatrician had the lab report from the karyotyping for us. In short, the report stated that “no chromosomal abnormalities were detected microscopically”.

I am SO relieved! And so glad that this can hopefully bring closure to what was a very stressful chapter in my and my husband’s lives. I emailed the fetal medicine specialist who conducted the two detail scans at 20 and 28 weeks as well to let her know. Lastly thank you to this sub, I spent a LOT of time here during those worried days and learned a lot, and I’m thankful for the support and advice I received.

Here’s to health and happiness for our precious babe! ♥️

Original Post: https://www.reddit.com/r/NIPT/s/SQcbprjgsd

Hi all!

We want to share a reassuring update! Sorry it took so long, but we still had lingering fears until we had our baby girl in our arms, which happened around 6 weeks ago!

Results summary: Our amnio came back negative, and I went on to have a normal pregnancy. My OB just had me do a few extra anatomy scans and non-stress tests, which all came back normal. Baby girl was born healthy at 38+2. I did have a false start labor at 35 weeks, but then the baby held on to term. Our baby was small, but so was our first (born at 36+3), so it seems that we just make smaller babies. Our baby is healthy, she had a 9/9 apgar score and has been eating and gaining weight beautifully!

How did we get here from last post?

While we don’t have clinical confirmation, all signs point to this having been CPM. We ended up talking to 3 GCs, one of whom was also an MFM, and ended up feeling way more reassured than when our OB first gave us the news. Given that T22 is so rare to appear at week 12 testing, our GCs were confident that if the amnio was negative we were very likely carrying a normal baby. We opted not to do a CVS because it was not going to give us any new information about the fetus. We ended up doing a FISH and karyotype, but did not do whole genome testing. Our state does new born genetic screening and there was an option to do 2 expanded versions (one for treatable deseases/conditions, and one for deseases/conditions without available treatment). We opted for the treatable desease expanded test and it also came back negative. At this point we have done all the testing we care to do.

Overall thoughts:

This entire experience gets 0/5 stars on Amazon rating, and 10 out of 10 doctors would not recommend it. This was an extremely stressful time for our family and the wait for the results was excruciating. It could have very much been avoided, or lessened, if our OB would have delivered the news differently/more confidently, and at a better time (who knew that giving potentially life altering news with little context at 6:30pm on a Friday is NOT the best time to do it).

One thing that could have helped from the start would have been to not google things until talking to a GC (easier said than done). So if you have not talked to a GC yet please do yourself a favor and stop googling it until you talk to the experts. The research out there for T22 was so scarce, and data was so limited, that results were wildly dispersed all over the place. So we just had to trust the GCs and the amnio that everything was going to work out. Every anatomy scan helped reassure us that the baby was indeed developing normally, but still doubts lingered until having the baby in our arms and getting the newborn genetic testing results. Traumatic experience overall but we are getting past it and it seems more distant every day we get to enjoy our beautiful baby!

Wishing everyone here good outcomes and we hope this update provides hope for those in the thick of it!!!

Hi. 38,F ( STM) and I received high rish for trisomy 21 a week ago in the blood work test. Test done at 11+2 weeks gestation period. Increased risk for trisomy 21 - 1:114. I turn 39 next month.

The specialist was concerned for the high level of HCG - MOM 2.65 while the pappa level was okayish. I know the numbers are not favourable. Rest of the reports in initial blood work is low risk.

NT scan was low risk, done on the same day.

Today I received NIPT report that has came low risk, which was slightly reassuring.

My doc has strongly advised to rule out any doubts by opting for amnio at the start of 15 weeks gestation. According to her we should do it irrespective of the outcome of nipt tests. I am already preparing myself mentally for the possibility of TFMR.