so upset after 20 week scan..

[Shanivy]

I really hope the genetics appointment can shed a little more light on what's going on. I wish I could be more helpful, I thought it was the same sample too.

As to the amnio, I always said if I were offered one for whatever reason I'd not risk it. But I'm a worrier. And im not in your shoes right now. I don't think any of us could tell you what we think you should do regarding that. She's your baby and it's completely your decision, go with whatever you feel you need to do.

Hugs hun I really hope you get some answers xxx

 

[MariaIsabella]

Thanks!

I am also scared of the risks of the amnio but the unknown for me if so hard to take. Will make the decision after my consultation Monday.. i dont care of the sex of the baby and only would do the test if there's a chance there could be a rare chromosomal symptom not easily picked up by mri/scans.. below is an abstract from the scan made by consultant after mri:

"The fetal biometry was within the normal range.

Normal lungs, normal spine, normal liver, gall bladder, stomach and bowel.

The fetal brain appeared normal on scan this morning. The MRI confirmed that the brain appears structurally normal, but that the corpus callosum was slightly shortened. However, this was most likely to be a normal variant. I have confirmed that the sex appears to be a normal female"

Would you be reassured by this even after ambigous Harmony and slightly shortened corpus callosum?

X

 

[KHTW]

Like Shan said, we are not in your shoes and can't tell you what to feel or do.

Should the baby have a chromosomal disorder of some kind, what would you do? Is there anything you can do? You would have the knowledge and that is it.

Like I said, amnio for me would be a no-go due to the risk. I would hold on to the MRI results and pray to God my baby girl is healthy.

xx

 

[Shanivy]

Agree with KH. To be honest that all sounds quite positive so I'd be going with the doctors and consultants views on baby. They don't sound very concerned about her from the MRI findings. A lot of "normal"

Like I said your genetics appointment hopefully will be able to give you the most like likely explanations for the harmony result. Then you can make your decisions when you're more informed. I can't imagine how stressful this is for you hun.

I think GG said it already, but I'd write down all of the questions and worries you have for when you have your appointment. It's easy for it all to fly out of your head in a situation like this. So you can find out what could be wrong and what could be done about it. If anything even is wrong. xx

 

[_GG_]

Yes, I would be reassured by the report but I can't possibly know what I would be feeling in your shoes. I don't think I worded my last post very well as I know it's the chromosomal issue that is your concern and not the sex so sorry about that. Was just trying to say that I don't know how much more info an amino will give you on any possible issue. Definitely a question to ask next week.

Like I said though, whatever your decision, you have support without bias here, always. Xx

 

[Shanivy]

Absolutely, whatever you decide to do we'll be here to talk xx

 

[BunnyN]

I really feel for you and anyone would be worried in your shoes. Clearly something unusual is going on. I hope you get some answers soon. You have definitely had lots of positive answers from you MRI already which is a very good thing and you should definitely be reassured by that but obviously there are still questions. Although I don't blame you for being anxious about what is causing the anomaly It is still possible that it is not anything that will have a serious impact on your baby. It could be left over placental tissue from a vanishing twin or your baby could be carrying trace dna from a twin which although unusual won't necessarily effect anything except knowing that it is there.

 

[TORino]

You poor love. How terrifying and confusing for you. I think the risk of the amino is very very small if you choose that option. I had the harmony test and recall them asking me if I wanted them to test for other chromosome issues and I said no at the time as the lady said there are lots of chromosome ‘abnormalities’ that don’t give any symptoms in ‘normal’ individuals and that having that done could cause unnecessary worry etc and I should consider if I want it carefully.

I think if I was in your situ I’d want as much information as possible to make a decision. It does sound odd that you’ve got an image saying girl and a dna test boy but there could be an innocent explanation for it. I hope you get some answersxx

 

[Kholl]

Reading through this, it really seems the vanishing twin scenario is the most likely. Did you do IVF with this pregnancy? if so, did you have one or 2 embryos implanted? If one only developed to 4ish weeks, you wouldn't see a sign of it at a 7-week scan, though evidence of that Y chromosome would still be hanging around. But that would only be likely if they implanted 2 embryos, cause if they implanted just one and it split then you'd have identical twins, which would mean they'd BOTH have been girls before one vanished.

I am so sorry for this. From the outside, the normal ultrasound along with the fact that the test is 99 and not 100 percent effective (I mean, that's a real difference, and that means 1/100 women don't get accurate results, which is low but not insignificant) are very reassuring. However, I don't think there's any way for a pregnant woman to relax 100% unless she is mentally unstable or on drugs. This is par for the course, and with what you've been through, you must be a wreck.

This is why these tests are tricky. It's wonderful we have the option, especially when you discover something definitive. But so often you just kind of get deeper into a rut of overwhelm and confusion. I have declined all genetic testing (and even gender ultrasounds) during pregnancy for this very reason. I don't think there is anything wrong with them, objectively, but the simple fact is that they are not 100% accurate and I know myself and the tiny room for error would make my anxiety spin out of control. It's like testing early and getting tiny maybe-squinter after squinter. You take all these tests and yet still don't know anything, except that you're broker and more confused. It's awful. The only real thing you can do is wait until your baby is born, excruciating as that is. And from where I stand, it sounds like you'll be holding a healthy baby girl before you know it.

Best of luck to you!

 

[MariaIsabella]

Thanks everyone, really appreciate all your replies

I will ask all my questions Monday and decide on next steps after.

Got the second Harmony result through the post today and saw a new thing they tested, "Sex Chromosome Aneuploidy Panel" which looks for conditions in which individuals are born with an abnormal number of sex chromosomes (X and Y chromosomes) such as Turner Syndrome etc. This was not included in my first test i think ( they probably added this because of the gender issue ) and it came back low risk so at lease I feel better about that.

Xx

 

[_GG_]

Thanks everyone, really appreciate all your replies

I will ask all my questions Monday and decide on next steps after.

Got the second Harmony result through the post today and saw a new thing they tested, "Sex Chromosome Aneuploidy Panel" which looks for conditions in which individuals are born with an abnormal number of sex chromosomes (X and Y chromosomes) such as Turner Syndrome etc. This was not included in my first test i think ( they probably added this because of the gender issue ) and it came back low risk so at lease I feel better about that.

Xx

That just adds weight to the probability of a vanishing twin.

Glad they included it for you xxx

 

[MariaIsabella]

Thanks everyone, really appreciate all your replies

I will ask all my questions Monday and decide on next steps after.

Got the second Harmony result through the post today and saw a new thing they tested, "Sex Chromosome Aneuploidy Panel" which looks for conditions in which individuals are born with an abnormal number of sex chromosomes (X and Y chromosomes) such as Turner Syndrome etc. This was not included in my first test i think ( they probably added this because of the gender issue ) and it came back low risk so at lease I feel better about that.

Xx

That just adds weight to the probability of a vanishing twin.

Glad they included it for you xxx

Thanks, but would a vanishing twin being picked up this late in the pregnancy? Also, had a scan at 7 weeks and nothing at all was seen to indicate a twin which is confusing.

I am thinking it could also be mosaic placenta/fetus or a xy female ( there are females with xy chromosomes even if rare ).

Xx

 

[_GG_]

Thanks everyone, really appreciate all your replies

I will ask all my questions Monday and decide on next steps after.

Got the second Harmony result through the post today and saw a new thing they tested, "Sex Chromosome Aneuploidy Panel" which looks for conditions in which individuals are born with an abnormal number of sex chromosomes (X and Y chromosomes) such as Turner Syndrome etc. This was not included in my first test i think ( they probably added this because of the gender issue ) and it came back low risk so at lease I feel better about that.

Xx

That just adds weight to the probability of a vanishing twin.

Glad they included it for you xxx

Thanks, but would a vanishing twin being picked up this late in the pregnancy? Also, had a scan at 7 weeks and nothing at all was seen to indicate a twin which is confusing.

I am thinking it could also be mosaic placenta/fetus or a xy female ( there are females with xy chromosomes even if rare ).

Xx

Like I said before and I think Shanivy did...the DNA can hang around long term, hence harmony only being 99% guaranteed. Also, as before, it is surprisingly common for a twin to be missed at early scans. I had mine at 7 weeks and all you see is a pole...it's so so easy to miss a second.

I bet Monday can't come quickly enough for you. Xx

 

[_GG_]

And, Mariaisabella, come over to July mummies thread. Shan and me are in there along with lots of other wonderful ladies and it's such a wonderful place to both get and give support...and rant and vent, which we can be quite good at, lol

 

[Shanivy]

Agree with GG hun I've not seen you there in ages so feel free to pop back in. I really really hope the genetics appointment can put your mind at rest. So many scary possibilities that may have nothing at all to do with your baby. I have everything crossed for you xx

 

[GBLiz]

it does sound very confusing and i would definitely want to know whats going on. However i personally wouldnt risk amnio. i would be demanding to know why there were differeing results and what it might mean. What has the consultant said about the discrepancy?

 

[MariaIsabella]

it does sound very confusing and i would definitely want to know whats going on. However i personally wouldnt risk amnio. i would be demanding to know why there were differeing results and what it might mean. What has the consultant said about the discrepancy?

Thanks! The only way to know whats going on is the amnio unfortunately. Otherwise wait until baby is born. Will ask for possible outcomes though before making a decision. Xx

 

[kirlou92]

First of all I want to say sorry you are going through this stressful situation! I think when it comes to the amnio, if you feel it will give you answers and peace of mind then you need to do whatever you feel is best.

I found this nugget of information which means that if you've ever been pregnant with a male in the past EVER, then you may still have the Y chromosomes in your blood and it applies even to a mc or lost twin:

"fetomaternal microchimerism (also known as fetal cell microchimerism or fetal chimerism) whereby cells from a fetus pass through the placenta and establish cell lineages within the mother. Fetal cells have been documented to persist and multiply in the mother for several decades.
Fetomaternal microchimerism occurs during pregnancy and shortly after giving birth for most women."

May mean something to you!

 

[_GG_]

Maria, take note if Kirlou's post.

Then...think of this if it makes you feel at all better. Amino at 30 weeks carries a 0.6% risk of miscarriage which is far lower than I realised. It's far more risky at 15 weeks which is when many are done following abnormal Down's/patau's/ Edwards testing.

Now, this is where I start thinking out of the box a little. You are now presumably 21 weeks or thereabouts. Your baby is viable for a high survival rate if born at 24 weeks. Therefore, on Monday, I would also ask could an Amino, if you chose to have one, be done at or just before 24 weeks.

In the UK, terminations can be performed after 24 weeks where there is a risk to mum's health or the baby would be born with a severe disability.

I know that we shouldn't discuss this on this forum but this is a very sensitive time for you with a baby you desperately want so hopefully nobody will take offense to pragmatic discussion here.

Basically, if you could hold off the amino until a few weeks time, a/ the risk of miscarriage is actually really low at 0.6% and your baby, in the worst case scenario was perfectly healthy but you did have complications, there is a chance at being able to save the baby.

If the amino showed something serious, which is highly highly unlikely due to the MRI results, you'd have choices still.

Choices and chances are so important to you in this.

Hope that all came across okay. X

 

[MariaIsabella]

Thanks everyone, appreciate your support and information which i will keep in mind.

I will hopefully know more tomorrow and will update you of next steps. The midwife told me my hospital has a miscarriage rate of 0.5% at this stage when it comes to Amnio so quite low but the thought if someone sticking a needle in my pregnant belly makes me sick! Xx