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AIBU?

Share your dilemmas and get honest opinions from other Mumsnetters.

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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:

SirGawain · 05/02/2020 22:24

I have had two operations which, I was told, carried a one percent risk of a catastrophic outcome. In reckoned that the objective risk was fairly low and risk continuing with one of conditions was higher than that.
I survived both.

Iris27 · 05/02/2020 22:33

How did you find out about the 6%?

As far as I can recall the NIPT test can only give you a risk % rather than being able to definitely say the baby has a certain condition.

I had an amino after the 20wk scan which confirmed my baby had a genetic disorder. I would've preferred to find out earlier.

SonjaMorgan · 05/02/2020 22:43

I am so sorry you are going through this, I can't even imagine how you must feel. I personally would have the test.

I worked with someone who had downs syndrome along with others who had learning difficulties etc. I now could never bring a child into this world with those kind of issues. I also believe that as the years go by provisions for these services will be further cut.

Purpleartichoke · 05/02/2020 22:44

If the results will influence your decision to continue the pregnancy, I would have the test.

MoreHairyThanScary · 05/02/2020 22:47

I've had cvs, whilst I worried about the risk of miscarriage, the results of the test were too important. ( already had 1 child with genetic condition, who would be at increased risk if we had another child with the same condition.

Once it had been done I was hugely reassured and able to enjoy the rest of my pregnancy.

CallmeAngelina · 05/02/2020 22:53

I agree with the others; in your shoes I would have the test.

for you and I do hope it all turns out well.

OvaltinaTurner · 05/02/2020 23:03

Hello OP
Very sorry you are faced with this decision. I remember getting a false positive for spina bifida and it ruined my pregnancy until the 20 week scan proved otherwise. Only you know whether you would choose to have a child with a genetic condition - if you would not abort then don't test and if you would then do: I had amniocentesis with DC2 and DC3 - that's where they take the amniotic fluid for testing via a needle and carries a 1% chance of mc. The amnio was fine, just had to keep still, put my feet up afterwards. I was happy in that decision as I knew what I could deal with and I believe in a woman's right to choose.
One of my children is neurodiverse and you do cope, of course you do, the same way as you would with whatever life throws at you but I would not be giving yourself a hard time for making a decision to test if a positive result would mean not continuing.
All the best to you

RB68 · 05/02/2020 23:04

I had to make a similar decision when my risk of downs was very high at 38.

my decision was to not test because of the increased risk of miscarriage. Why? Well it would not have changed my decision to have my baby if she had have had downs. I wouldn't have chosen to abort - I would just have known in advance that she was downs. I didn't need that information I felt so chose not to have further tests - the medical profession were in uproar and desperate for me to have it but when I told them my reasoning they backed off

justasking111 · 05/02/2020 23:04

I had an amnio. Could not have progressed with the pregnancy if the outcome had been bad, two other DCs to care for. It went fine. I did have cramps for 24 hours was warned about those so took to my bed and rested. I had the test privately, results in 24 hours.

MT2017 · 05/02/2020 23:11

Looking at it the other way, there's a 94% chance the baby will be fine.

If termination is the option if things don't go well, then yes, I would have the test.

It's a heartbreaking decision for you

Andahelterskelterroundmylittle · 05/02/2020 23:12

I had came back as a high risk of a condition after tests in pregnancy .
I was offered an amniocentesis with 1 % risk . I decided to take the amnio because I would rather be fully informed about my pregnancy
1.to decide if I would continue the pregnancy

To use the time to inform myself all about the condition of I chose to continue
To prepare wider family and friends , if I chose to continue

I felt the risk was small compared to the importance of my need to know . In the the end ... it's your call.

Bluerussian · 05/02/2020 23:32

Do have the test at ten weeks. It may be negative but you won't relax until you know. Like you, I'm pretty sure I wouldn't want to knowingly bring a sick child into the world but it is all pretty heartbreaking.

blueshoes · 05/02/2020 23:35

I took the test (CVS). It ruled out chromosomal defects but my dd was born with a heart defect which the CVS would not detect.

It never occurred to me or dh not to take the test, despite the risk of miscarriage.

Bowerbird5 · 05/02/2020 23:36

I could have written that in fact I was about to *Andahelterskelter>

My blood test came back at the high side indicating it was likely. I had to wait three weeks. I was in quite a lot of pain but didn't miscarry and my baby was fine and a much cherished little girl after our three lovely boys. I couldn't have had her terminated but wanted to know to prepare the whole family. I had some knowledge of Spinabifida as my sister was in a large hospital in Edinburgh for long periods of time and operations.

Im not sure I would want to take the risk when you have had several miscarriages already. I had but they were early on whereas I was 23 weeks when they performed the amniocentesis.

Bowerbird5 · 05/02/2020 23:39

Please have a few days rest afterwards if you take the test I had much more pain and cramping than they told me but I rested in bed or on the sofa for a few days and felt this helped. In my mind anyway.

TheGirlWithAPrince · 06/02/2020 00:05

I would check

TheBeastInMsRooneysRoom · 06/02/2020 00:07

OP, in the kindest way possible, nobody can help you decide this. We can tell you what we chose, or what we think we hypothetically would choose, but this is your family and your decision.

I'm sure you know that the presentation of symptoms in Emanuel syndrome is diverse and ranges from the most serious, early infant mortality, to living into the 30s. Factored into that equation for me would have to be that even a positive genetic presence does not mean that the gene expression will be the worst-case scenario.

Whatever you decide to do, you are doing it with love and compassion for your child, and that is really all you can do. Parenting is hard from the beginning and it's utterly shit that you have to deal with this.

Catsandchardonnay · 06/02/2020 00:16

If you would (perfectly understandably) terminate if positive than I would have the test.

If it would be just to prepare yourself then I would probably not have it.

Sorry you are in this horrible position OP

NeverPromisedYouARoseGarden · 06/02/2020 00:29

I'm sorry you are having to make this decision. I had a CVS for a high risk of Downs - a 1 in 2 chance. All was fine but it was a horrible, difficult time and I do feel for you. It helped me to remember that the 1% risk is a national average. Your hospital should keep a record of their own figures relating to miscarriage following CVS, so you might find it's less than 1%. In my case, I asked the (very experienced) clinician directly and it turned out that she had never had a patient miscarry as a result of the procedure. That made me feel a lot better but it was still a very tough call. I hope you have a good outcome whatever you decide.

agonyauntie2020 · 06/02/2020 01:18

I also had to have a test at the same mark as you, also with the 1% raised risk - notice that 1% means averaged across many doctors and hospitals including ones with little experience of the procedure. I think if you are confident with the place doing the test, do it. I did. All was ok on both scores. Also had a history of miscarriage, so know where you are coming from...

RainbowMum11 · 06/02/2020 02:05

This is only something that you can decide.
My XH has a relatively rare genetic condition and when I was pregnant with our first baby, we decided to have the CVS test as it would potentially crucially affect delivery as well as a lot of other developmental issues.
The test was really scary because of the increased risk of miscarriage, but it did mean that we had the consultant support along with the specialist through the rest of the pg & birth.

StoppinBy · 06/02/2020 02:53

I would have the test and also terminate with much sadness of the test was positive. The quality of life for the child would be at the forefront in that decision.

So sorry that you are going through this, I do wish the best for you xx

Original poster

OhGinger · 06/02/2020 06:53

How did you find out about the 6%?

I have a genetic condition which doesn't affect me personally but causes recurrent miscarriage and has the above mentioned risk of ES in any continuing pregnancy.

OP posts:

MintyMabel · 06/02/2020 07:55

the medical profession were in uproar and desperate for me to have it but when I told them my reasoning they backed off

Really? The test is not compulsory and choosing not to have it is incredibly common. Strange for them to act so hysterically.

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