High nuchal translucency and Echogenic Intracardiac Focus

[happyhips]

Hi Everyone, I am finding it so hard to find anyone who has had a high nuchal translucency result at the 12 week scan and then found a soft marker at the 20 wk scan. My nuchal translucency at 13wks 4 days was 2.7 but with awesome bloods and then they found an Echogenic intracardiac focus at the 18 wk scan. I just want to know if anyone else has experienced this or knows of someone and what was the outcome of that pregnancy. The only person I know who had both of these things went on to have a child with Down syndrome. I have chosen not to have invasive testing as we would not terminate. I have been given a 1:998 risk factor. I'm just searching for some info, it is so hard to come across.

Thanks :)

[wild at heart]

I have nothing to say except :hugs:.

I had my 18 wk scan and while nuchal and everything was fabulous The drs were very surprised to see a congenital possibly terminal lung consition for my bubs and have given bubs a 50% chance of survival...

Its hard when you find a problem as you get told teh verdict but you can't really get any concrete evidence or information except from people who have been through the same thing and have come out teh other end. have you got a good obstetrician who can help? I ahve found that to be very useful, we were referred to a great foetal medicine expert who gave it to us straight which was really helpful for us.
:hugs::fingerscrossed::hugs:

[wild at heart]

Meant to say that my obstetrician said that if theer is a chance that bubs will be fine then why terminate. He said that if bubs is not meant to survive then bubs won't survive. He said imgaine if terminated and bubs came out well.

Sorry to be contraversial, but I found it helpful to have a medical (foetal medicine expert) expert say that as you often hear of how they advise women to terminate.

[embohdi]

hi there i just want to first of all give you :hugs:. i have been in a similar situation, in my 18 wk scan my son was found to have 2 soft markers, missing middle flanges and bi lateral dialated renal pelves. i was refered to wch in adelaide and we also decided to have no further testing. My son does not have down syndrome or any other syndrome. Please PM me as i know you will be in for a rollercoaster of emotions leading up to the birth of your baby. I was very depressed i had moments of panic, you will not be able to relax about it until you see your baby either way. Good luck and feel free to pm me if i can help more:):wave:

[happyhips]

Thanks for your replies ladies. Every single bit of info is helpful while trying to understand everything that is going on.

[TeenyT]

I had a high NT of 2.8mm though nothing else unusual showed up on the u/s at that time. The amnio showed no sign of genetic abnormality though a later anatomy scan at 19 weeks showed my son had an apparent problem with his heart. An echo was organised which diagnosed a rare combination of cardiac defects.

Have they organised a further scan later in the pregnancy or alternatively, an echocardiogram? Usually, if there are any concerns at all with the heart they generally begin with either of these studies and you are transferred into special obstetric care to monitor you throughout the pregnancy. The echo gives more detailed information on what type of condition (or may rule out anything abnormal) the baby may have.

It was an incredibly difficult journey with him but I wouldnt have terminated either.
If you would like to chat further, feel free to PM.

[1stime]

Hi all. Happy Hips I know how you are feeling. It's scary! :hugs:

I had my 12 wk scan today. The actual scan went well, but my BT showed that a certain protein was at decreased levels indicating a risk (1:112) of Trisomy 13. Its far more severe than D.Syndrome with most babies dying at 2.5 days!


We had all my family coming over to Dad's on Saturday to finally give them the news and now this! :no: I just assumed all will be well and I can start telling the world!

Due to the mortality rate and the suffering the baby undergoes, we will have an amniocentisis. If the risk was for D.Syndrome I wouldn't have an amnio. I am just hoping they are wrong, and it comes out clear!:fingerscrossed:

[c38]

:hugs: My friend went through a similar thing.. all was clear on amnio

:fingerscrossed:Your bubs is one of the 111/112 that is ok

[happyhips]

1stime, Yeah it is definitely scary. I think the not knowing (which is where you're at now) is very hard. I would probably have had the amnio if I knew what I know now. I want to tell you that you shouldn't worry and that you will probably be fine (I've researched the **** out of these sort of things and the majority are fine) but I can't even listen to my own advise. I have found some awesome sites with support groups which you may be interested in looking at. It is filled with people going through the same thing. I know that you are not the only one. I will pm them to you. Keep in touch, the support that you receive from all of these ladies is priceless!

TeenyT, Thanks for sharing that with me. I have a 24wk scan booked for next Thursday. I'm not sure if they are doing an echocardiogram? or not but they are definitely looking at the heart and double checking for Ds markers.

[1stime]

Thanks c38, I hope so too! The odds are in my favour so lets :fingerscrossed:

Happy Hips, thanks for that. Thanks to you, I have also researched the **** out of this and the forums you pointed me too has made a world of difference.

I am feeling far more positive. The worst thing now is the waiting....waiting....waiting!! argh :hair:

[happyhips]

So glad I could help. Just puts things into a little more perspective doesn't it. I don't think these pregnancy hormones do much for our rationality!!!