Down's syndrome

[mjpcphjp]

My blood test has shown 1:77 chance of baby having Down syndrome. I'm 39, weight is good, 12 week scan was good however, something must have shown in my bloods for the computer system used to generate this result. I've had Pgd/ivf for this baby because my daughter has cystic fibrosis and we wanted to avoid that this time. I know blood test measures hcg levels and I only just finished my ivf medication a week before the scan so I'm hoping this is why this has been flagged up as such high risk. Anyone else been through anything similar? Unfortunately, we would have to terminate if positive for downs because downs present a lot of lung and respiratory problems which poses a high risk for my daughter and we would never jeopardise her health and needs. Any advice will be greatly appreciated. Thanks.

Based on your age alone your risk would come back about 1:120. Did they not give you the blood hormone results and the nuchal translucency measurement? These factors all together give the risk factor. I’d advise you to have a CVS or harmony test to be sure.

I’ve been through this and we terminated so feel free to PM me for more info. Our risk was 1:5 and the sonographer could tell just from the scan.

The scan was ok and nothing showed on the nuchal, that was all normal. I have NIPT Friday and if results are positive then I'm booked in for amnio to be 100% sure. It's so hard because we didn't go down natural route as cystic fibrosis is 1 in 4 and out of 6 eggs collected via ivf, 2 of them had cystic fibrosis. I don't want her to be an only child. How far gone was you when you terminated? X

There is still a 76/77 chance that your baby does not have Down’s.

NIPT is available privately for around £400 and gives you a more accurate result - it’s not 100% but apparently pretty close to it. The other option is amnio or CVS which is 100% but carries a small miscarriage risk.

I think your best option at this point is to have an appointment with a consultant who can explain more about the test results, discuss the options and give you more specialist advice on what to do next.

Fingers crossed for you OP

Sorry, cross post. Hope the NIPT gives you good news.

NIPT is Friday, results following Thursday. It's all done on NHS now (it is where I live Wales) however, we would have paid. I'm praying it doesn't have it, I have one child with life limiting condition, a family member is terminally ill and I'm struggling at this very moment with things being thrown at us and I know there are people a lot worse off and keep telling myself that and also keep telling myself we are lucky to have one child, condition or not as there's many out there who are not fortunate enough to have children. It's going to be a tough few weeks for sure x

I was 14 weeks, it was awful but the right decision for us and I’m now 12 weeks pregnant and hoping this one is ok, it’s very stressful. Based on what you’ve said you’re in a better position than we were, so I’m hoping you’ll get the all clear. Best of luck for the tests.

Thank you and congratulations that's wonderful.
I don't think I can go through ivf again although having said that my eggs are frozen so the whole process will be halved so we have options but then if ivf doesn't work I've wasted another year and will be 40 by that point. If we went natural we are at high risk or another child with cf and again potentially downs risk again. It's so hard isn't it.