Need advice regarding Possibility of DS

[Pc433]

Hello Everyone

I much appreciate if someone has advice for me. I am currently 25 weeks pregnant. I am soon to be 39 year old female and my husband is soon to be 46 and our first ivf is successful and we transfered one healthy pgta tested female embryo

We then opted for NIPT at 12 weeks with Natera and it came inconclusive because of low fetal fraction of 2.3% and said high risk because they could not calculate. After that, at 13 weeks, we again went with Natera and again same result with a fetal fraction of 2.4%. We then decided to go with Maternit 21 and this time, they said low risk and came negative for the three trisomies. However, the fetal fraction was still low at 3%. Also, my NT ultrasound is clear and they found nasal bone and no issues with neck thickness of the baby. I did ask my doctor about low fetal fraction and she said the sureshot way to know is amnio which comes with a risk of miscarriage. Since she's non commital and neither suggested nor discouraged on her own, we opted out of it. The anatomy scan at 20 weeks is also good and they said they couldn't get all the measures because of the position but otherwise good. At 24 weeks, they did a fetal echo and mentioned they found a very small 1.6mm VSD and scheduled a followup ultrasound at 32 weeks and mentioned most of the times, they will og away on their own. The baby is also 43rd percentile in terms of weight with 1lb 7oz but didn't express any concern.

Afterwards, I read a article that says most of the DS babies will have heart defects like VSD and I could not shake it off especially because of my bad results with Natera and low fetal fraction.

When I asked the doctor, she said she could do a amnio on 3rd April which will put me around 26 weeks. Again, she is very non commital and did not suggest this when I was at her clinic during ultrasound. I also read the risk of amnio will now be around 4.5% and I really don't to put a healthy baby through all this. I am a nervous wreck and not sure what to do. Any advice is much appreciated.

As a side note, I also got covid positive in January at around 12 weeks.

[Wishinandahopin]

if it was a pgta tested embryo the chance of DS is incredibly slim. Especially when showing as fine in scans. Unfortunately Amnio causing miscarriage is probably a higher chance than the baby having DS.

Are you on blood thinners at all? As that can cause low fetal fraction.

Our embryo was mosaic, we never did NIPT and our baby was always on the very low centiles (under 10%) in our later scans they kept saying the femur was extremely small which could be a DS marker. We refused amnio.

Our baby is now absolutely fine.

I would say if you have no markers for DS, your embryo was tested normal and the NIPT you did have said low risk. Then I would really really try not to worry - I know that’s so so hard to do but I think you will just work yourself up. The chances are so so slim.

Wishing you all the best and hope you can enjoy the rest of your pregnancy xxx

[Pc433 in reply to Wishinandahopin]

Thank you so much for the assurance. I used to take 81 mg of baby aspirin after embryo transfer and the dosage increased to two tablets after m y first natera result. I did ask the doctor if this is a blood thinner and they said no.

[CassieJ]

So sorry for the stress you’re going through. I think statistically the kind poster above is probably right-re the risk of an amnio-but as I read your post I wondered who has been scanning you? One of the things I found most reassuring when I was pregnant is having a very experienced Fetal Medicine specialist scanning me. Just wondered if you didn’t feel confident with your experience if you could pay for a scan with a more experienced physician before jumping to a more invasive test.

Really hope the worry passes X

[HollyT7]

I got Covid at 12 weeks too! Pregnancy went smoothly x