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AIBU?

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Original poster

WWYD? Please help me with this decision

49 replies

OhGinger · 05/02/2020 21:47

I have a 6% chance of my baby having Emanuel syndrome.

I have been given the option of having testing done at 10 weeks to ascertain whether the baby has this but this comes with a risk of miscarriage. Apparently it increases the risk of miscarriage by about 1% (on top of the usual risk).

I am so torn. The risks for both are of course low but I'd be devastated if I miscarried a healthy pregnancy because of the testing but I'd also like the peace of mind as after discussing with my geneticist, this particular disability sounds quite severe and life debilitating for a poor child. Info below:

Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability. Additional signs of this condition can include heart defects and absent or unusually small (hypoplastic) kidneys; these problems can be life-threatening in infancy or childhood

WWYD? I'm so stuck. I've had a number of miscarriages already due to my genetic condition but so far this pregnancy is going okay.

OP posts:
MummyGoingItAlone · 05/02/2020 21:49

If it were me, I’d have the test. My reasons being I am not a strong enough person to deal with a potentially very poorly baby. I would rather know and risk the miscarriage. Such a tough choice and only you can decide x

Rainbowx · 05/02/2020 21:53

So sorry you are going through this op but I would also have the test done so I know what I'm dealing with and be prepared mentally 💐

Aquamarine1029 · 05/02/2020 21:54

I would have the test, definitely. The risk of bringing a baby into the world with such devastating disabilities outweighs the risk of miscarriage imo.

Merryoldgoat · 05/02/2020 21:56

I would have the test. I’m sorry you have to make this decision

Original poster
OhGinger · 05/02/2020 21:56

I think I already know that I agree with you all and will likely have the test. It's just hard hearing how it could cause a miscarriage when you've already had so many. Considering how low the risk is of the baby having this too. But I know I'd spend the entire time worrying if I didn't.

OP posts:
Kittywampus · 05/02/2020 21:57

I think I would also have the test.

aroundtheworldyet · 05/02/2020 21:59

If it’s 1% above the normal chances that’s very low. And it you do have a miscarriage then 99% chance it would have happened anyway.

Statistically you can’t blame yourself. But it’s understandable that you may feel this way.

But in short, i would get the test Flowers

TheLovleyChebbyMcGee · 05/02/2020 22:00

Personally I'd have to test, I couldn't not know, I'm so sorry you are going through this

Schmeller · 05/02/2020 22:00

I would have the test.

Original poster
OhGinger · 05/02/2020 22:00

If it’s 1% above the normal chances that’s very low. And it you do have a miscarriage then 99% chance it would have happened anyway

Very true. It's just hard when you've had them before and so you do everything to try and avoid another, to then do something knowingly that increases your risk (even by such a tiny amount).

OP posts:
Lionsleepstonight · 05/02/2020 22:02

Is the test a CVS? I had that, and was able to enjoy the rest of my pregnancy once i had the results. However, i have never miscarried so can understand why you are giving this lots of thought.

aroundtheworldyet · 05/02/2020 22:02

Op it’s crap all round.

I hope it works out for you

danadas · 05/02/2020 22:03

I was in a similar situation when at my 20 week scan they found markers for a certain condition. I chose to have the amnio there and then. Not something I had ever considered before but once I was in that position I just needed to know either way.

Original poster
OhGinger · 05/02/2020 22:04

Lion, yes I think so. I can't remember the exact name just that it's a needle into the placenta.

Yes it's because of the previous miscarriages. It's sound hard to knowingly do something that increases your risk even by such a tiny amount. My brain is fighting against me.

I know in my heart I will have the test though.

OP posts:
stophuggingme · 05/02/2020 22:04

I’m so sorry you are going through this
I would have the test Flowers

AnnaNotElsa · 05/02/2020 22:05

I believe they can screen for Emanuel Syndrome through NIPT. It’s a simple blood test. I had to pay privately (I was interested in a different chromosomal abnormality) but it was worth it for peace of mind. Got to find out the sex very early too which was exciting! I’m no expert though, so I may be wrong.

ChocolateEmergency · 05/02/2020 22:06

I’d think about whether I would proceed with the pregnancy if the baby did have the condition.

If I decided I’d go ahead, then no I wouldn’t take the test. If I would chose to terminate then I’d get the test.

If it was me, I’d be taking the test.

I’m so sorry you’re going through this Flowers

Original poster
OhGinger · 05/02/2020 22:06

Anna, I wasn't told of any other options by my geneticist but I'll certainly ask about that before agreeing to anything - thank you.

OP posts:
Original poster
OhGinger · 05/02/2020 22:07

Honestly I think I would have to, with a heavy heart, terminate if it were positive.

OP posts:
Lionsleepstonight · 05/02/2020 22:07

It sounds like it is CVS, as thats the procedure I had.
Such a difficult decision to make Flowers

nothingcanhurtmewithmyeyesshut · 05/02/2020 22:08

I would also have the test. 1% increase is so low that I think if you miscarry then it would have happened anyway, test or no. The only thing that would make me hesitate is the question of what happens if the baby has it? If you would continue with the pregnancy regardless then there is no point in taking the risk. If the test being positive would lead you to terminate the pregnancy (and I would not choose to bring a child into the world with such a disability and the subsequent impact on their quality of life) then I think the test needs to be done, no matter the risk. But ultimately the choice is yours. I dont think there is a right or wrong choice here, it's what is best for you.

Original poster
OhGinger · 05/02/2020 22:10

Yes me and my DH have already discussed that we would terminate likely if it were positive. Simply because we don't think it would be fair (in our personal opinion).

OP posts:
Elouera · 05/02/2020 22:13

Sorry you are going through this. I had the NIPT privately with my 1st pregnancy, which sadly revealed patau syndrome. We had discussed out options beforehand, so made our final decisions much easier at the time. I dont think NIPT can detect Emanuel syndrome, but they are advancing the tests all the time, so its certainly worth asking about. It was a simple blood test from myself and not invasive at all. Best of luck with everything.

99problemsandthecatis1 · 05/02/2020 22:20

I'd have the test.

Also, the increased miscarriage rate is because there's a higher chance of miscarriage with chromosomal disorders. The increased risk of miscarrying a healthy baby is actually much lower (very close to normal) but the increased risk is overall.

mineofuselessinformation · 05/02/2020 22:20

In your shoes, I think I would.
To explain, I have a child with a genetic disability and as much as I wouldn't wish them away, I would have wanted to know if I was going to have another.
(They do have a good quality of life, but the disability is significant and does limit what they are able to do.)
As it happened for me, it wasn't an issue because I didn't have another child after them.
If you know, at least you can make an informed decision - whatever that may be.
The risk of miscarriage is far less these days with this kind of test than it used to be because doctors are so much more skilled.
I hope for the very best outcome for you. Thanks

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