Baby may have Down Syndrome

[smurf508]

Hello everybody.

I am am looking for advice/experience and would appreciate any feedback.

At out 12 week scan the baby was fine and the nuchal measured 1.2
We were stunned when we got a phone all this week that with the bloods they put us at high risk and that we had a 1 in 25 chance of downs.

Obviously being worried we booked for a private scan at the Fetal Medicine Centre yesterday for a detailed scan and a Harmony Test.
The scan was fine and the nuchal was measured at 2.1 so still in range.
Unfortunately we have to wait for 2 weeks for the results as it gets sent to the US.

The baby is an IVF baby and my wife is 39.

I know 1 in 25 means a 96% chance baby doesn't have downs but we sadly lost our son this year with a condition called CDH (Congenital Diaphragmatic Hernia) and that happens to 1 in 2000 pregnancies.

I just wanted to see if anyone had the rough same odds and the results came back fine. I have read the test can sometimes be wrong.

If anyone has had the same experience I would really appreciate your feedback.

Thanks

Hi, sorry to hear your bad news OP that must be really tough for you You'll find loads of great advice on Mumsnet especially over on the antenatal tests and choices topic. There was actually a great story on there recently about a couple who are in a very similar situation, so hope you get chance to have a read of that and that gives you some comfort.

Hi Smurf,

So sorry you're going through this. Unfortunately I don't have any advice, but if you repost in the 'talk' section, under 'becoming a parent' you'll find the topics 'antenatal tests/choices' and 'pregnancy', where you'll find lots of lovely and knowledgable posters with lots of advice and experience. If you click on the report post button, I think MNHQ can move it for you, or just repost.

Good luck with everything

You could only get the answer from DNA analysis. But, as you probably know it might lead to miscarriage. So you have to start from the end, what if it is Down syndrome?

I have a friend who had 1:4 chance and they've been referred to "best clinic in London" and the nuchal scan was not really positive. Because they decided to keep baby anyway they didn't go for DNA test. This is a story with a good ending - it was no Down. Which only tells you that all those test just shows the chance. You might still have a winning hand with all the bad chances. On the other hand there are those who had all the positive tests and ended up with Down syndrome babies....

I have no personal experience, but I just wanted to wish you well and hope all works out for you, DP and your LO x.

Many thanks everyone and taking the time to respond.
Thank you Gandalf about the advice to move the post, it gives much better advice under the section you mentioned.

I've had both experiences - positive and negative. When I was pregnant with my 4 yr old daughter, her nuchal measurement was fine, but like your wife, my bloods put us in the high risk group. We opted for an amnio as we really needed to know for sure. I researched it thoroughly (these people were brilliant www.arc-uk.org/, and if you haven't already looked at their site/called them, do) and the results came back fine.

Earlier this year, I fell pregnant again at the age of 41. However, my 12 week scan showed a couple of problems with the baby, and we were immediately sent to a fetal medicine unit for a more detailed scan and CVS, which showed the baby had Trisomy 18 (Edward's Syndrome) and wouldn't survive until birth.

I did a LOT of online research while I was deciding on/waiting for my amnio with my daughter and found plenty of stories of people who had higher odds than you getting the all clear.

It's good that the fetal medicine unit couldn't spot any markers (I know from our experience this year how thorough and experienced they are - they correctly diagnosed my baby as T18 before the CVS results came back), and hopefully this means that all is well.

All that said, I know that nothing is going to really reassure you until you get the results back. (Equally I know it doesn't stop you from madly researching and hoping for similar positive stories to cling to!) I really hope that you and your wife will soon be celebrating the all clear.

I don't have any advice for you, as I have no experience with test results like yours, but you may find this website interesting to visit www.futureofdowns.com/ I found it last night after seeing an advert on twitter for lose the label campaign about downs syndrome.