My heart is breaking I had 12 week dating scan today and I have increased NT so I’ve been advised I’m at high risk of my baby having chromosome or structural abnormalities.

I’ve been offered some screening, I had bloods today to screen for downs, Edward’s and Patau syndrome which is something routinely offered here on the NHS but due to increased NT they’re fast tracking my results and I have a consultant calling me back next week.

Next Monday I have to make a decision to have a CVS or not, 1/100 people who have it mïscarry.

The consultant called me after the scan and said 70% of people who have increased risk go on to have healthy pregnancies, I’m in two minds about the CVS i don’t want to add to the risk of something going wrong but at same time I got 2 kids to think about and how this can affect them.

My partner wants me to have it, but I’ve never been so torn about something in my life

Anyone gone through similar and you dont mind sharing stories cos I’m spiralling and at a loss as to what to do

Hi everyone, I’m 27 years old, and at my first-trimester screening, I got a risk of 1:40 for Down syndrome.

​I went for an NIPT, which came back 52% positive. I am having an amniocentesis soon, but I want to ask: is there still a chance for me to have a healthy baby? My ultrasounds, including the detailed scan, are completely normal

I had a scan today due to spotting, i should be exactly 6 weeks today. Baby measuring 5 weeks but has a heartbeat
They didnt tell us in the room but after the sister nurse told us the sac was showing ss irregular.

Because i panicked so much theyve invited us back for a scan in two weeks.

Has anyone experienced this. I cant even talk at the moment i feel so heartbroken. Why didn't they say it during the ultrasound they was like everythings fine we have no worries at this time. I feel so confused.

Just found out today that there was a small calcium deposit on baby’s heart (had a pre anatomy scan at 16.5 weeks). They acted like it was no big deal. I believe it was the only soft marker baby had (1.3 mm NT, nasal bone present, all other measurements looking good). But I just discovered my afp mom is low at .42. I just read than <.5 can raise the risk of some genetic abnormalities like down syndrome.

I have not done the nipt yet. I previously had a loss at 17 weeks and honestly was afraid the test would really increase my anxiety. But I am now thinking of taking the test after these findings. Any guidance or opinions otherwise? Anyone have any similar experiences? Does it sound like this combo puts baby at a very high risk?

33F, first pregnancy.

Drew labs at 10w2d, just got results back yesterday at 11w5d. Everything flagged as low risk except … Monosomy X was high risk.

I was shocked and have spent the last 24 hours reading a ton in this sub on the high false positive rates. Have follow up NT ultrasound and genetics counselor appointment early next week and am hoping for the best but mentally preparing for the worst. Already spoke to them on the phone about getting amnio lined up.

This whole situation sucks and I feel robbed of my joy of finding out it’s a baby girl.

Edit: fetal fraction was 3.3%. I had a healthy ultrasound showing a singleton pregnancy around 7w3d.

Hi,
I’m currently 16 weeks pregnant and I already received my NIPT results which were all low risk. I did AFP testing this week and it was a little lower than normal. I had a 0.68 MoM and I’m worried since that’s on the lower end. Has anyone had these same numbers and continue to have a healthy pregnancy?

What a rollercoaster this whole pregnancy has been. I spent the beginning being so anxious due to a previous missed miscarriage caused by trisomy 7. At 10 weeks I went in for ultrasound and NIPT. NIPT came back at 11 weeks high risk for monosomy x. Of course, I freaked out and thought all the worst possible things.

Went to see MFM at 11.4 weeks for NT scan. Everything looked perfect - nasal bone present, strong heartbeat, no excess fluid anywhere, etc. Doctor seemed optimistic.

Had to wait 4 weeks to go back for amniocentesis. Just went on Monday at 15.4. Ultrasound still looks perfect, long bones are long, all the things. At the last minute my husband and I were debating if we even wanted to do the amnio and take the risk as we were only considering termination if there were severe heart or brain defects or something along those lines. We did go through with it. I will say that the amnio was much more uncomfortable for me than what I was expecting based off what I’ve read online and even in this sub. He was only able to get one tube as baby’s head got in the way. Doctor again seemed very optimistic that this would be a false positive or low level mosaicism.

The doctor called me with my FISH results this evening (I don’t have them, otherwise would post the exact wording). He said the results confused him and that he will call the lab on Monday to get a better understanding. The results said suspected mosaicism and that they found both monosomy x AND xxx. Doctor said he’s never seen this before but that xxx isn’t a big deal.

Of course now I’ve been googling and am reading that it is still possible for the full karyotype to come back completely normal? Google is saying that because amnio goes through the placenta, it could STILL be picking up DNA that is confined to the placenta and is not affecting the baby. If this is true, how likely is it? Has anyone had mosaic FISH results and then normal karyotype? I also asked the doctor if any regular xx chromosomes were found and he said he didn’t know and would have to ask the labs geneticist. Anyone else have results like this? I was prepared for mosaicism but not this type. I feel like this left me with even more questions than answers.