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

Hi Rhubarb, I’m not a medic but I’ve got a pretty good background in human genetics. I understand why you are worried but I am pretty sure from what you’ve written that it will turn out to be ok.

I’ll try to explain why I think that. A mosaic is when a person has some cells with ‘normal’ genetics and some cells with ‘abnormal’ genetics. So for example, a person with mosaic Down syndrome has some cells with two copies of chromosome 21, and some cells with three copies. Usually this results in a less severe version of the syndrome than when a person has all their cells affected.

In your case the mention of possible mosaicism relates only to the sex chromosomes, so it has no bearing on the likelihood of your baby having Down, Patau or Edward’s syndrome. From what you’ve written it sounds like the results for trisomies 13, 18 and 21 were clearly interpretable, and have come back with low probabilities.

For the sex chromosome result, one possibility for the lack of interpretable result is that some cells have the wrong number of sex chromosomes. I stress this is only one possibility, there are several other possible reasons, which will not affect your baby’s health. The worst case scenario is that some cells have, for example, only one X chromosome, or are XXY. As previous posters have said, these are called Turner syndrome and Klinefelter syndrome, and they mainly affect fertility and secondary sex characteristics. Other ‘unusual’ combinations of sex chromosomes, for example XXX or XYY have little discernible effect at all. So even if - and again I stress that this is only one of several possibilities - your baby is affected by a mosaic sex chromosome difference, the effects of this are likely to be comparatively mild.

I hope I’ve been able to provide some explanation and reassurance. I do think it is irresponsible of them to send you this result with no proper support and I hope you get to speak to someone knowledgable tomorrow.

Sorry I haven't had time to read the whole thread but what crocodile says is right about XO XXY etc. Some of these conditions do not have any affect on quality of life at all.

The email doesn't say baby will have these, just that they can't conclusively rule it out (and I imagine most of the time this is due to limitations of the tests not because baby actually have the condition). Please try not to worry

I think it's awful that they have just given you results via email and not face to face BUT try to see this as positive. If there was a seriously high risk something could be off they would have given you the news in a different way ie face to face. In my last pregnancy I was told after my early bloods in a letter I had low PAPP-A levels. As a result I was high risk. I googled it and it sounded bloody terrifying - can be linked to all horrid things. Well I'm now sat here with a healthy beautiful 3 month old. I wish they had sat me down face to face and explained it to me rather than a letter in the post. However when I quized the midwife she said they'd only have called me in and given the news face to face if there was a significantly high risk. It sounds like your tests couldn't rule out these conditions but not that they think it's likely baby has one.

If you are still worried after further discussion then maybe looking into amnio could be an option but chances are you probably won't need to xxx

@Coffeeandcrochet explains way better than I can (I'm too exhausted with newborn!)

Thanks everyone and to those below who have given me some great explanations. I've spoken to the scan centre and they aren't able to explain it to me which I don't think is professional at all. If they are doing these tests in my opinion they should be trained to interpret the results.

Going to call the lab later once it's open and failing that, will try my consultant but I don't think she will be too happy with me calling. She's so busy,

Fingers crossed everything is ok...

Just wanted to say when I was pregnant on my ds a few years ago I also had an echogenic bowel show up on the anomaly scan. We did the harmony test also and that came back negative for what they could test for but as you know it's still a sign for cystic fibrosis which u can't test for. I also had planceta previa at 24 weeks I had a bleed and had to spend the rest of my pregnancy in hospital which was very had as my oldest ds was at home and he has asd. Anyway the biggest reason for this to show up is that u have had a little bleed at some stage then the baby swallows the blood and this makes the bowel show up bright. My ds was born at 36 weeks and he is perfect. Although I had a cs and he was born with severe TNT and had to spend a couple of weeks in the nicu. I freaked a bit when that happens thinking c.f. but apparently it's quite common with cs babies. Anyway just wanted to share my story and my ds is 100%.perfect. big hugs I remember what a stressful time it was.

Sorry to hear that you haven’t been able to speak to anyone helpful yet Rhubarb. The best person to speak to might be a genetic counsellor, they are excellent people who are trained in explaining this sort of test to non-experts. I don’t know how long the wait might be to see one but if you don’t have any joy with the lab or your consultant you might be able to get a referral for genetic counselling via your GP.

rhubarb second the pp who recommended ARC, definitely give them a call, they are so helpful with this sort of thing. Fingers firmly crossed for you and baby

I hope you can get to talk to someone who can reassure you soon, @RhubarbOra - and I am sorry that the scan centre were not able to help you. I guess that their speciality is not genetics, but I think they should have been able to suggest to you where you could get the information and reassurance you need.

My fingers are firmly crossed for you, that you get the information you need today, and that all is well with your little one. And I am sending you more hugs.

Fingers crossed for you. I've been thinking about you all morning x

Hope you got on ok @rhubarbora

Any news? X

What coffeeandcrochet said is how id explain it too (I’m a biochemist). These tests are not infallible, I don’t want to out myself by saying what I do but I review a LOT of scientific data, tests and statistics and no scientific test is 100% accurate and lab techs aren’t invincible either! This result could be them saying they mucked up that aspect of the test (controls failed etc.) or the results were inconclusive i.e they couldn’t say one way or the other as the test sensitivity wasn’t good enough etc. Equally there could be a possibility they detected a fetal sex anomaly (different from norm XX or XY but the combinations and potential symptoms are quite wide ranging!) ... which has just worried you rather than been in any way helpful as it’s so limited in detail! You could ask for a simple re-test, more invasive testing like amniocentesis (not without risk) or indeed as you’re trying - best option is to speak to genetics expert to interpret your result or tell you the test was invalid.

It’s easy to say but try not to worry, worrying just punishes you twice. Don’t in any way fret about chasing your consultant - that’s what they’re there for. Hope you get some answers soon, sending big hugs xx

How did you get on OP?