to be absolutely sick and tired of this horrible pregnancy?

[RhubarbOra]

We have had so many scares. Bleeding twice due to insufficient cervix due to cancerous cells I had to have removed years ago, reduced movements, potential for growth restriction, echogenic bowel meaning we have had to spend over £400 on private tests, now these private tests have come back fine and we have finally got all our results back and they've added this:

We were able to report a trisomy probability assessment but were not able to provide a result for the fetal sex portion of the analysis. In approximately 1.5% of cases, we are not able to report a result for the fetal sex analysis. There are many possible reasons for this. Technical reasons include variance in the assay data. Biological reasons may include a maternal chromosome condition (such as mosaic monosomy X or XXX), mosaicism (maternal, fetal, or placental), demised co-twin, or copy number variant. In the case of a biological cause, repeat analysis would not be expected to yield a result.

One more thing to worry about. I have no idea what these things are and am confused, upset, and worried, again.

AIBU to feel completely useless and hopeless. I just want my baby to be ok and after miscarriage after miscarriage I am convinced that it's just not meant to be.

I feel like I'm about to lose the plot

So, what they are saying is they have looked at the babies chromosomes (we all have 46, 23 from Mum and 23 from Dad)

Extra copies of some chromosomes cause different conditions. So an extra copy of chromosome 21 causes Down’s syndrome - ‘trisomy’ means 3 copies. They have looked at this, and given you a liklihood of the baby being affected by this.

They have tried to look at the babies sex hormone. Girls are XX (one x from Mum, one from dad) boys are XY (x from Mum, y from dad). They haven’t been able to get a result from your babies test, so they couldn’t see xx or xy. This might be because one of the chromosomes is missing. This is what happens in turners syndrome, the baby is XO - one X is missing. Or they may have an extra X or an extra Y, which would give a confusing result.
Or, the test may just not have worked. Or other things, like the baby having a twin that did not develop, but whose chromosomes are still there causing a confusing picture.

Just my interpretation by the way. I work in the medical field, but don’t have specialist knowledge in this area. That’s what I understood the email to mean, but I may be wrong

Hopefully you will get some answers tomorrow

I'm reading it the same as Yellowcrocodile. But hold on to the part that says 'it could be because of technical problems'. I know that's easier said than done. Big hug to you X

I feel so sorry for you, it must be a nightmare.

All I can say is, it will soon be over and you will have a little son or daughter. Then you can put it in the past and be happy.

Best of luck.

@Yellowcrocodile if that's the case though then how can they ever tell you if your baby has turners or kleinfelters or not? Most of the time they can give you a probability. This implies that they should still be able to test for the sex regardless of whether the baby has one of these or not?

Oh I don't know. I'm going to ask for an amnio.

@Rebecca36 sadly if our baby has mosaic Down's syndrome or something similarly serious we have decided that we would terminate. It's a tough decision to make and I wish I had had all of this testing earlier.

I think an amino should give you a definite answer. You can certainly test babies for sex chromosome conditions. I think the mothers blood (and therefore chromosomes) can affect a harmony test, but I might be wrong - don’t have much experience with them

Thank you @Yellowcrocodile - I don't think I'm going to try for children again if this doesn't work out. I've already had 3 miscarriages and am quite broken.

Oh OP you poor thing. You must be feeling frantic. Obviously you need to talk to someone who knows what they are talking about, but we were told when we had the harmony that any issues with obtaining results were more likely to be technical rather than biological. Plus you’ve had scans - presumably no markers other than the bowel were picked up?

All you can do tonight is be kind to yourself - step away from dr google and treat yourself to a nice bath or get your DP to give you a foot rub or buy some new music or eat chocolate - whatever it takes to get you through the night as calmly as you can 🤞🏻

Oh sweetheart, I’m sorry you’ve had such an awful time.

Fingers crossed it will all be fine. If not - the different conditions have different effects. Turners syndrome for example, children tend to be short, need help with puberty and can have fertility problems in adulthood. But they have normal expected intelligence, and generally live full and independent lives. It may be that the health problems the child would experience mean that termination is the right choice for you, but you may feel you’d like to continue with the pregnancy.

I’ll think of you tomorrow lovely. You’ve been so strong to cope with everything you’ve been through, I’m in awe of you.

I agree with doing what you can to get through tonight. I know you’re meant to engage with feelings etc but although you can’t blank them out I would spent v anxious nights watching 6 episodes in a row of comforting funny tv even if just in background with me looking at it while my brain spins. And I would force myself to eat something even if a banana and slice of toast and glass of milk as anxiety is worse when body physically needing something. I’d also not allow myself to google anything and do normal routine things like brush teeth and put on pyjamas. If your thoughts are troubling you stay up on couch and watch shitty films and read unrelated crap on your phone. Just don’t let your brain totally fuck you over! Please update us. I really do hope you’re alright

RhubarbOra would ARC Antenatal Results and Choices be of any help arc-uk.org/ be of any help? They won't be open now, but can explain tests etc. to you.
for you, you've had such a rough time.

Thanks everyone. I just feel totally done in. Up at 6:30 for work tomorrow do hopefully will manage at least a little sleep. I'm exhausted.

Wishing you well OP. I've posted on a few of your threads as our DC2 had a bright bowel at her anomaly scan (sorry I can never spell the correct name!!)

Fingers crossed you get some answers tomorrow. An email like that is just shitty!!

@Crunchymum hello, thank you for any advice you've given me in the past. I've seen a few posts the echogenic now floating about (only a couple are from me) which is reassuring, but sad also that it's so stressful for so many people.

I just want an answer. I want to have a clear mind for 5 minutes.

Just want to send lots of love. I had a horrific identical twin pregnancy last year - I was scanned 3 times a week for months, I had to have surgery into the womb whilst pregnant, and 6m into the pregnancy one twin died which I was told would mean the surviving twin would be severely disabled.
So I had to carry the baby that had passed away in hopes that the other baby might survive - but they had both been given an10% chance of survival so it was just a horrible horrible waiting game.
I then went into labour at 32w, and to add insult to injury the midwives did not believe me as it was so premature, and I had them both on 2 paracetamol barely making it to the delivery suite!
Anyway I was told my baby would likely be very disabled etc etc and luckily there is not a thing wrong with him.

I'm sorry I don't really understand the technical terms in your post, but I really hope everything goes well for you, and as excellent as medical professionals can be, sometimes the doctors don't know it all x

@lemonnmeringuepie sorry you went through that. It sounds awful and I can only be glad you have your healthy little one.

I feel like everything is stacked against me and am preparing myself for a termination. I'm coming to terms with it before I've even had any tests done.

Can't believe I am even talking about this at 23 weeks.

Does anyone know how long amnio results take to come back?

@RhubarbOra I'm really sorry you're having such a shitty pregnancy, will be thinking of you and really hoping things work out xx

Rhubarb it’s easy for me to say but please try not to panic just yet.
We had the same results from our Harmony test last year, no phonecall or explanation - just that they were unable to determine the sex of the baby and possible reasons why. I actually spoke to the scientist in the lab who was so lovely, I was beyond hysterical and sobbed down the phone. It turns out that they’d used most of my blood for the ‘important’ results and the blood they had left didn’t contain enough fetal DNA so it was deemed invalid. I was so convinced something was wrong (anxiety due to other issues) that they agreed to repeat the tests for me and even gave me another lovely private scan all free of charge.
An agonising week later we got all the low results again plus the news our lovely baby was a healthy boy.
He was born in December.
Fingers crossed for you that it’s something similar as I was told that’s by far the most common reason for this result xx

Thanks @MaryShelley1818 - for us however there have just been so many other things go wrong that it's not possible to even try and stay positive right now. I think it's almost become easier to expect the worst and anything good that comes out of it is a bonus. Glad everything was ok for you.

Thank you so much everyone for your kind words. They're helping me through...

I have nothing constructive to say really Rhubard but I just want to say that I’m really sorry you’re going through all this, I think I would struggle to be positive too.

I hope the phone call tomorrow gives you some reassurances and I will be thinking of you x

@lemonmeringuepie that’s an absolutely horrific pregnancy you are nothing short of amazing for getting through that: loss of one, likely suffering of remaining twin, low chance even of their survival, the joy and loss at delivering one live and one still baby let alone the labour itself. Each of those individually would floor me, what a situation

@Thissameearth agreed.

@lemonnmeringuepie