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

I’m afraid I don’t know enough to comment on what they’ve told you, but I am sending you the biggest hug right now. You have been through such a tough time, and this latest report is clearly very stressful, on top of far too much stress already.

I would not blame you one iota for losing the plot right now.

{{{hugs}}}

They didn't even phone me to explain. Just sent an email right before they closed. I feel so in the dark right and just have no idea what's going on. Falling apart in the train station as we speak..:

Would it help to make a note of your concerns from that email, and the questions you want to ask them? You couldn’t email them to ask the questions, and to tell them how distressing it was to receive this information with no explanation and no opportunity to speak to them in person.

Perhaps if you can get these feelings off your chest, you might feel a bit more in control.

Thanks @SDTGisAnEvilWolefGenius I could cry right now.

@SDTGisAnEvilWolefGenius I'm going to email them tonight once I'm home and ask them about it on the phone first thing.

Please don't worry. It looks like all they're saying is that they can't tell you the baby's sex,that's all. They've managed to report on the trisomy analysis which is the most important part.

@Treacletoots I just know that there are studies linked to an echogenic bowel being caused by mosaicism and mosaicism is linked to growth restriction which is also linked to echogenic bowel. I'm panicking, again. I don't know if I can cope anymore it's just one thing after another.

Sending hugs. I know it's pointless saying calm down because you just need to talk to them. Hopefully when you speak tomorrow things will be reassured

Thank you @Treacletoots

Does anyone know if it's possible to call someone out of hours for this sort of stuff? Just for an explanation? My midwife is on annual leave and I have no idea who to call.

Yes there should be an out of hours number on your notes. I'm sure there was on mine.

It’s such a worrying time isn’t it. I don’t think out of hours will be able to help with this. If you’ve got a bleed or reduced movement then the out of hours were great (in my experience) but for this I’ll imagine they’ll refer you back to clinic or want to speak to specialists during normal hours not an urgent call out. Wouldn’t hurt to ask though. What testing was it, Harmony or something similar? What information did you get on what fetal sex tests would be carried out is there anything in papers given to you, I had little booklet on harmony test? Are you currently on consultant care? Your midwife will almost certainly refer to specialist with this. I think fetal med unit might be able to help and discuss what it might mean and what options are for further testing etc. Sorry you’re going through this. I had repeatedly bleeding preg (post MC) and found it very anxious time. Maternal OCD etc so understand the situation. I think it’s awful clinic did it this way - my harmony was done privately obvs and the process was their private GP called with the results and if there was a problem would call you in to discuss (luckily mines were fine but was good to know that you had that in place).

@Thissameearth they did exactly that. They tried 3 people and none had ever heard of those things. I spoke to the lab who tested the results. Amazingly they were open but no geneticists there. Gave me the direct number to call at 9 tomorrow. Here's to a sleepless night tonight...

I am consultant led yes. I have an appt with my consultant on Thursday but that seems so long to wait with this worry. It was the harmony test I had. Wasn't given a booklet. In fact wasn't given anything!

Let me rummage for mine...

How many weeks are you?

@HaPPy8 I'm just over 23 weeks

@HaPPy8 why do you ask?

Hopefully OP someone may come along who works in this field and tell you. I know it's hard not to panic, but try to stay calm for your tiny human.

Nothing useful it just says: harmony can also be used to test for conditions as early as 10 weeks. You have the option to test for conditions caused by having an extra or missing copy of the X or Y chromosomes inc Turner and Klinefelter syndromes. We opted for this (and it’s a result of this and they can find out sex if you want to know). Elsewhere, “will I always get a result? 3 out of 100 women will require a repeat test, we receive a result in approx 2/3 of thesecreoear samples. Patients will not be charged if we are unable to obtain a result”

@Snowysky20009 Just looked at the harmony site. The test can't pick up mosaic Down syndrome. And now they've said that mosaicism can be a reason why the test for the sex failed I'm wondering what the point of the test was as now I just have it in my head it's a type of Down syndrome that can't be picked up. Echogenic bowel and an inability to test for the fetal sex point to it. It has left us with more unanswered questions than anything else.

I just don't know what to think anymore.

Thanks for looking anyway @Thissameearth I really appreciate it.

My understanding is that they can’t exclude a sex chromosome condition, like turners syndrome (where one of the X chromosomes is missing). I think they are saying that the other chromosome abnormalities, e.g 21 (downs) 18 (Edwards) they have been able to give a result for.

@Yellowcrocodile they have given a result for all three. They just haven't been able to determine the sex of our baby.

So they should have given you a probability for downs, but can’t give you the child’s gender, which may be because there is an abnormality with the sex chromosomes, like Turners for example, but may be for other reasons, like a problem with the test

@Yellowcrocodile to be honest I have no idea. I don't understand the results.

I am in no way any kind of expert but to my knowledge assessing sex from NIPT is the hardest thing for them to do, the Y chromosome is really small, plus you already have 2 X chromosomes in your cells, so trying to find out what is fetal vs what is maternal DNA is really tough.

It is Australian but there is some detail here www.sonicgenetics.com.au/wp-content/uploads/2016/08/Harmony_NoResultInfo.pdf which explains it.

I know none of this will make it any better, particularly as you’ve had such a tough time already OP. Hopefully you’ll get some proper answers from the company and/or your consultant.

Hugs