Downs syndrome risk high. Feel horrific ... any stories??

[sam3starxx]

The hospital called me to say my results have come back and are;

1 in 95 (background age risk was 1 in 740). (I am 29).

Scan was inconclusive. They couldn't see as baby would not get in the correct position. I then asked if another scan would help, they said no.

I feel at such a loss. We discussed at the beginning that we both work full time, he works for the emergency services and we have two children (1 each) 6 years old and 8 years old and both boys need us. They both live with us (my partner has full rights to his son).
I know it may be upsetting for some to read the next part but we have to put our children who are here first and a baby with DS has a huge impact and needs round the clock care, we cannot provide that, as well as financially. This is not an easy decision, but one we have thought over carefully.

I feel selfish, like a monster and depressed.

I have the options to either leave it and carry on and hope for the best.
Have the CVS test.
Harmony test.

Harmony test sounds the best route but its £345, its a big blow for us.

The CVS scares the hell out of me, I couldn't bare to find out the baby is perfectly fine but it then causes an infection or breaks my water in turn then ending my pregnancy.

Just feel really emotional and so confused.

Anyone else experience this, what was your percentage, what did you do and what was the outcome? Thank you.

 

[LoraLoo]

I'm sorry I've not been through this but I can imagine what a difficult situation youre in. Were there any markers on your scan? I think it's awful that you have to pay for the harmony test. But I think this is the route I would go down. I hope everything turns out ok for you, try not to be too hard on yourself I think you're feelings are completely natural and normal.

 

[glong88]

So sorry to hear this.

Was there any signs on your scan, like the neck measurement

 

[sam3starxx]

So sorry to hear this.

Was there any signs on your scan, like the neck measurement

He/she would not behave and get in the correct position. They just couldn't advise. I asked if another scan would help she said no as it would not be accurate still as it is hard to tell on a scan.

 

[glong88]

So sorry to hear this.

Was there any signs on your scan, like the neck measurement

He/she would not behave and get in the correct position. They just couldn't advise. I asked if another scan would help she said no as it would not be accurate still as it is hard to tell on a scan.

So did they not get any neck measurement

 

[sam3starxx]

a

 

[sam3starxx]

S

 

[glong88]

Oh right. I would of thought they needed it.

What do they want you do to now? Personally if it was me I would need to no and would do more tests

 

[sam3starxx]

So sorry to hear this.

Was there any signs on your scan, like the neck measurement

He/she would not behave and get in the correct position. They just couldn't advise. I asked if another scan would help she said no as it would not be accurate still as it is hard to tell on a scan.

So did they not get any neck measurement

No sadly not. They said they could not see?

 

[Olivette]

Have you looked into the needs of a downs baby? I was under the impression that most don't need round the clock care. I know that isn't helpful I'm sorry! I too was under the impression they couldn't give the final figures on risk without the nt scan measurements. Another option is to have a private scan for the measurements as that might be useful.

 

[Bonnie11]

I would absolutely have the harmony test to set your mind at ease. Then at least you can make an informed decision having all the information and you will also be offered counselling. At the moment you are just dealing with what if's and it's hard to do that when it's such an emotional subject xx

 

[Witchrose]

I would absolutely have the harmony test to set your mind at ease. Then at least you can make an informed decision having all the information and you will also be offered counselling. At the moment you are just dealing with what if's and it's hard to do that when it's such an emotional subject xx

Yes, this. I received a 1 in 29 chance, and it turned out my son does not have DS. And was a totally healthy baby in every way. So if I were OP, I wouldn't make any big decisions without knowing for certain.

You are certainly no monster, and all your feelings/reasons are valid. No one else has to walk in your shoes, or can know what is right for you and your family.

Whatever answer you receive, and whatever you decide to do... I hope you get tons of love and support.

 

[Alligator]

Your odds are still very very low - hold on to that.

I know the test is expensive, but I would scrimp and save and do it. I think it is worth your peace of mind to make a decision knowing as much information as possible

 

[kcmb0886]

1 in 95 is only a little over 1% chance of Down Syndrome. There’s about a 98.9% chance of no Down Syndrome. It’s still very unlikely. I realize when we hear that there’s any risk, it can be terrifying. But, the standard blood work that is done at ~12 weeks is known to give falsely increased risk assessments, and without an accurate ultrasound or NT measurement, the blood work is even less accurate. When I went for my 12 week testing, I was told my baby’s NT was thicker than they’d like to see and then I was told that he had a 20% chance of having any chromosome abnormality, cardiac problem, or genetic syndrome. They wouldn’t even send me for the regular blood work. I was terrified and I cried for days. I was able to have the NIPT (Maternit21) which came back low risk. So I was seen for an early anatomy ultrasound at 15 weeks which was reassuring and then they’ll send me for another one in a couple of weeks. Is your doctor able to see you for an early anatomy ultrasound just to make sure everything is developing properly (ie heart, kidneys, bladder, brain)? They wouldn’t be able to measure the NT at the anatomy scan, but knowing whether everything else is looking alright might ease your fears. I’m sorry you’re going through this.

 

[kitty_el]

I would be querying how they can give you a combined score of 1 in 95 without an NT measurement. I have never heard of that ever... my baby was in an awkward position and they said I had to come back and they would finish the scan at another time. That just makes no sense...

I can understand your concern, but as others have said 1/95 is still not that high. If it was me I think I would pay for the Harmony or maybe have a private scan to look for markers etc.

 

[Sander]

Maybe you can get some help from family and friends to pay for the harmony test? If everyone chips in a 20 it could help with the cost.

1 in 95 is still pretty low - as another poster mentioned it's just under 99% chance that you have a perfectly healthy baby. Also something my midwife told me is that your odds are calculated by the number of children you have, not 1 in 95 people. Like a 1 in 95 chance means if you were to have 95 children, 1 might have chromosomal abnormalities.

I know it's very scary, but just remember the odds are in you and your baby's favor for a healthy child

Hopefully you can get more conclusive answers soon!

 

[lilmisscaviar]

I believe there was another girl on here not too long ago that was in the same situation because she also had a high risk of DS. If it matters to you whether to continue on or not, I'd definitely go for the Harmony test since it is 99% accurate with DS. It IS an outrageous cost, but then so is termination. At barely over 1% odds, it doesn't seem too likely that your baby will have it, but you don't want the doubt hanging like a cloud over you the rest of your pregnancy.

Also I'd definitely be pushing for another NT scan to retake those neck measurements. I think it is horrible that they basically told you it would be pointless when they couldn't even see for sure. If that comes back ok, then you might be able to forego the Harmony test.

 

[sam3starxx]

I would absolutely have the harmony test to set your mind at ease. Then at least you can make an informed decision having all the information and you will also be offered counselling. At the moment you are just dealing with what if's and it's hard to do that when it's such an emotional subject xx

Yes, this. I received a 1 in 29 chance, and it turned out my son does not have DS. And was a totally healthy baby in every way. So if I were OP, I wouldn't make any big decisions without knowing for certain.

You are certainly no monster, and all your feelings/reasons are valid. No one else has to walk in your shoes, or can know what is right for you and your family.

Whatever answer you receive, and whatever you decide to do... I hope you get tons of love and support.

Thank you really needed to hear that I just feel guilty. Thank you again xx

 

[sam3starxx]

Thank you ladies for all your stories and advice.
Phoned the hospital this morning and they refused to scan me again unless i pay and said it would not help as it would not confirm anything. They said even if they could see the neck and nose this time it would mean nothing.

So i have paid for the harmony test, i have it tomorrow morning and get my results in 6 days.

Fingers crossed.

Thanks again for your kind words. Yesterday was an emotional day and hormones do not help! Feel calmer today xx

 

[glong88]

Wow that's really harsh. What hospital was that??

Keep us updated with the results xx