1:2 chance of chromosomal abnormality

[MummaDaisy]

Hi I’m 21 and this is my second pregnancy following an early miscarriage in January. I fell pregnant 2 weeks after I began bleeding and was elated and focused on making it to my 12 week appointment.

I had my appointment at 11+2 weeks according to the date I first began bleeding. Here I was told the baby had a nuchal measurement of 3.7mm.

The student sonographer struggled to get a 45mm CTR measurement so another lady came and just about got a measurement that meant we could have the nuchal translucency measurement taken. They explained what this could mean.

The next Day, I was called regarding my risk and was told that I have been calculated as a 1:2 risk of my baby having Down’s syndrome and a 1:345 chance of edwards and pataus.

Immediately, I was offered a CVS which I accepted but due to a posterior placenta this could not be done so now I have had a NIPT and am awaiting results which could take weeks.

at my CVS appointment I asked what caused my 1:2 risk as although I’m aware the NT is high, surely my bloods must have been TERRIBLE at my age. But dr told me he was suprised. Papp-a was perfect at 1.09 MOM and Hcg was above average which is an indication but only is 1.54 MOM.

I was suprised hearing these figures and am now very confused at how my risk is so high as although my NT is 3x the norm at my gestation, I have seen others with high NT worse bloods and have lower risk.

I also haven’t been told anything else regarding how the baby looked eg other soft markers such as nasal bone etc… so I assumed all was well? Although the scan wasn’t the best quality, perhaps I didn’t drink enough?

would it also make a difference if the baby was under 11 weeks? As although I bled from my miscarriage 09.01.23, my HCG didn’t return undetectable until 12.01.23 so surely my menstural cycle wouldn’t have recommenced until then? So wouldn’t I actually be days behind? But baby is measuring from the first day of bleeding so is that a good sign?

im so very overwhelmed with thoughts and hoping others have some stories of hope or explanation if they have been through something similar.

TIA

I'm so sorry you are going through such worry

I didn't think 12 week scans could be done that early due to risk of inaccurate results and the very earliest was 11+6 which if you aren't quite sure on dates you could be less than that?

I would see if you can get the scan re done?

Thanks for your fast response. They told me the earliest they do is 11+2, but yeah even that’s difficult to do sometimes as baby doesn’t always measure exactly 45mm.

I asked if they could retake the measurement when I went for the CVS but the doctor said they take one measurement only and they would not take another one😫

When I had my twins they couldn't get the NT measurement as they were in the wrong place and the NHS "rules" said the sonographer only got 2 attempts or something random. So I paid to have it done privately at a private maternity hospital - ironically the sonographer also worked there part time 😳 - i think it cost £190 but it put my mind at rest after several miscarriages and genetic testing during IVF showing some issues. Is there anywhere near you that does it privately?

Oh wow I never heard that the sonographer only was supposed to get a maximum amount of attempts. That was definitely exceeded in my appointment.

I live between MK and Cambridge so chances are there’s a good likelihood of finding somewhere private to have another test and I may do that following my NIPT results if they come back lower risk as I think it’ll be reassuring as my previous US was very rushed and done with a student until the very end with the NT measurement.

I was also given odds of 1:2 when pregnant with DD, 9 years ago. I think my nt was about 3.7 too. I was 35 at the time so that will have increased my odds. I had a CVS which thankfully turned out fine. Fingers crossed for you x

Thanks for your response :) I just had my NIPT results and they have come back as low risk. I’m so relieved but not sure what is next. I don’t even know how accurate this is or wether to ask for a cvs or not with such conflicting results!

so far I’ve been offered a fetal heart scan at 18 weeks to check for heart defects but still I’m concerned as NIPT only tests for downs, edwards and Pataus so there’s just a lingering thought in the back of my mind thinking something else could be wrong 😫

Hey!
Currently going through a similar thing!
do you have any more updates on how your getting on?

Hi :)
Sorry, but it wasn’t great news for me. I found out at my second CVS appointment at 14 weeks that the baby’s heart stopped beating. I had some tests done and my girl had turners syndrome :(
please try not to be disheartened as this isn’t the case for everyone and there is still hope for you! I hope and pray everything works out for you❤️
I am now onto my fourth pregnancy after 3 miscarriages and have made it to 11ish weeks so far and things seem to be ok 🤞🏽

That must have been so awful for you @MummaDaisy. Keeping my fingers crossed for you this time around