late Amnio/ inconclusive NIPT/ good scan

[Laulou8]

Hi,
It’s my first post here and I’m really not sure what I’m doing! Just looking for a bit of advice or support. It’s a bit of a long one…

we’ve had 3 losses in the past 5 years due to chromosomal issues (T15 and T18). I’m pregnant again but at 12 week scan baby was turning around like a rotisserie chicken and they couldn’t get measurements. I was told my consultant to get the NIPT so we paid private.

first we used Melio, had an inconclusive result and then on the redraw the machine broke and they told me that it wasn’t cost effective to fix (!?) so we got a full refund.
we then went with harmony and had another inconclusive result, had a redraw and waited an age for the results, inconclusive again. in the meantime I hit 20 weeks and he’s not showing any markers, after 5 years of mess ups I don’t really have much faith in my trust but this scan he looked perfect.

my BMI is 33 and I’m on blood thinners which I stopped before all tests. The midwife has said due to recurrent inconclusive results I might qualify for a late Amnio given my history and that this might signify a chromosomal problem.

I’ve always said that I would opt for TFMR in the event of a chromosomal issue (no judgement at all to anyone that doesn’t!) but since seeing what looked like a perfect 20 week scan I just don’t think I can do it. I was going to have additional scans maybe to feel like I’m keeping track (of something out of my control - I know, it’s helped me so far though)

I don’t really know what I’m asking. My head is just in the bin right now and anyone that’s had recurrent inconclusive NIPTs has a story to tell I’d be really grateful.

if I’m posting in the wrong place too lemme know! 🙈

Anyone? 😅

Hi, didn't want to leave you hanging, it's just that there's a lot happening from what you've described (which probably explains the silence), and your best port of call really is your obstetrician. Hope you have good news!

so you say they couldn’t measure the nuchal fold due to baby moving. But what about the bloods? They do bloods plus nuchal fold = combined test.

if the bloods looked ok, plus no markers, it’s not 100% but there is a high chance of no issue.

i don’t have experience with inconclusive nipt. Did they give you a reason for that? Was there not enough of the baby”s blood circulating in yours? Why and when would this happen? And if that’s not the case, what was the reason?

it seems to me you accepted a lot without digging into reasons.

now it sounds like you’ve bonded with the baby.

but you also have to consider DS babies are born with no markers and after been given a low risk at the combined test. So only an amnio will provide a clear answer.

you could discuss this with someone with a cleared head, your partner for ex, and at least be ready for all outcomes.

Hiya, just wanted to say how sorry I am that you've had such a horrid time, the stress of this kind of thing is unreal , noone knows until you're in it. I had 2 inconclusive nipt tests, they wouldn't do anymore and after a more in depth scan which showed a few markers we went straight to amnio, which gave me conclusive results for Edwards at 20 weeks. Sorry for not having a positive reply for you.

I had no markers and at 12 weeks scan was fine but at 20 weeks his brain was measuring 'off' and eventually opted for an amnio at 27 weeks, ended up having a TFMR at 32 weeks after being confirmed 'non compatible with life' due to 2 different rare genetic disorders and not wanting him to suffer just to die anyway. It wasn't an easy process but knowing I could protect him from suffering and any distress saw me through.
im pregnant again and opted for an amnio straight away at 15 weeks to check for the same conditions, luckily all is fine but I couldn't not have that reassurance or peace of mind. I hope your ok

Hi, did you manage to get an amino, if your able to it might help put your mind at rest x

Hi can you please update?

Hey @Mas05
Happy update - the inconclusive tests weren't indicative of anything wrong. Currently feeding a very healthy robust 8 month old.

I attended hospital for the amnio as it was offered and we were still very much of the opinion that we would terminate in the event of abnormalities. (Again no judgement either way, i rang ARC Natal to talk this through and try and get a clearer head on it).

On the day though I kept thinking risk of losing a healthy baby and prior to starting I burst into tears and couldn't do it. The team were incredible (apparently it happens a lot) and a specialist consultant offered as an alternative (though obviously not as accurate) to do an extremely thorough scan. She measured, prodded and assessed for an hour which was agony but she said she was happy to say he was highly likely to be healthy. I was fraught with anxiety but decided that was enough to help me continue. I prepared for the worst and absolutely hated pregnancy, had support from the perinatal team to manage my anxiety.
He was born in June last year, 7lb 3 and is the happiest, fittest little chunk.

I never believed I'd write this from the other side. I'm sorry you're in this boat, the worry and feelings can be unbearable and people either have no idea how complex it can get or say the most unhelpful things. I came off Mumsnet for a long while but im back now and if you'd like to PM me I'm happy to chat. Its a lonely place to be when you're in pregnancy limbo.

Got everything crossed for you ❤️
Also, If anyone ever sees this who sent kind replies. Thank you.

Ahh this is a lovely update. SO pleased it worked out for you. We lost a baby to T18 last year and are TTC, it's good to read stories of hope.

@MrsScotland got everything crossed for you. I have low quality/ quantity eggs and APS and tried absolutely every trick in the book. Will never know if any of it/what worked it or if it was sheer luck but always an ear if you're struggling.

Hoping for your Rainbow 🌈 ❤️

I would really appreciate any tips.

I'm taking Ubiquinol 600mg & Omega 3, 6, 9 (Just over 2 months of taking this so far) and Her9 pre/during/post natal multivitamin inc things like Omega 3, folate, choline, vit D, iron, zinc, selenium etc.

Using preseed/conceive plus. Ovulation strips. On third month of BBT.

Any other suggestions welcome!