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Antenatal tests

Scan results

18 replies

Chunkymonkey72 · 29/08/2011 12:57

i had 12 week scan which showed low risk for downs at 1 in 2200. At 20 week scan they have said baby is smaller than expected by about two weeks and has hole in heart. The two things apparently may mean baby does have downs or di George syndrome. Now so very anxious about everything. Have booked for amniocentesis to confirm but any experiences/ advice please?

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Alliwantisaroomsomewhere · 29/08/2011 16:42

I had an amnio at about 20 week for my DS who is now 7. There were no anomalies in my previous scans but I undertook the test because of my age at the time. It was scary because it was unknown to me, but it was not as bad at all as I thought it would be. The consultant was kind and professional and I had very good care.

I stayed off work for 2 days afterwards just to keep still for a while and when I starting cramping ever so slightly while washing dishes a day after the test, I stopped what I was doing and sat down.

It is an uncomfortable procedure but was not painful at all.

Were you told that the hole in the heart DEFINITELY means DS or Di George syndrome?

I do hope that all goes well for you.

ragged · 29/08/2011 16:45

I'm so sorry you're going thru this. I'm afraid somebody has to be that 1 in 2200. Xing my fingers that the amnio goes well for you -- oh, btw, amnio can hurt (just saying that can be quite normal).

Chunkymonkey72 · 29/08/2011 17:06

Not definitely related but they believe there is a real possibility. Thanks for advice

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Alliwantisaroomsomewhere · 29/08/2011 17:09

My DH just reminded me that they put a small wipe of anaesthetic where the needle was inserted into my abdomen and that is possibly why I did not feel any pain.

Good luck - will you let us know how you get on? Just take it easy after you have had the procedure. Don't think that you have to prove to anyone how capable you are!

OiMissus · 29/08/2011 17:14

My heart goes out to you. No experience to offer, just best wishes. Good luck with everything. X

EggletinaClock · 29/08/2011 20:00

There can be many reasons for holes in the heart, but they can also often just be stand alone problems not linked to another syndrome or condition. A simple hole in the heart is very successfully managed through surgery these days.

The uncertainty is however, one of the most appallingly worrying things you can go through and I hope that in your case they are erring on the side of caution by recommending an amnio. There are lots of happy endings on these boards and most amnios do seem to come back clear.

If it helps, do keep talking here and people will support you as best they can, there's lots of experience here.
x

Rangirl · 29/08/2011 20:05

One piece of advice I got from my BIl who is a Doctor is to insist on a consultant to do the amnio. It is a very stressful time and my thoughts and prayers are with you xxx

misty0 · 30/08/2011 18:27

Every thing crossed for you chunky.

I had CVS - needle into the placenta - at 13+3 and i was petrified. I hate needles and the thoughts of the entire thing made me sick with worry. I was very tense and was expecting the worst. In fact the procedure took moments, and was no more painful than having a blood test/vaccination ect. There was a little sensation of pulling/movement around my lower tum, but it was all over with so quickly - dont worry.

When is your amnio? Talk to us here when you need to - this is a horrible time and there are so many ladies here who can try to support you, as egglet says.

x

loralou · 30/08/2011 20:13

Hi chunky Just to let you know i was in a very similar postion to you except our baby wasnt measuring small but had an enlarged brain ventrical instead. Also the baby has three defects in its heart. We were given a risk of 1 in 25 for downs or di george syndrome. We had the amnio at 34 weeks for our personal reasons and the fish results came back clear for both syndromes. i hope thsi gives you some reassurance, also it helped me to think there was a 96% chance of nothing being wrong. I understand tho that the worry and stress, cos i really struggled at some points but luckily had lots of support. i would try ARC as i have heard they are excellent. Overall tho ggod luck and try and relax as near as impossible that is.

Chunkymonkey72 · 31/08/2011 08:16

Hi ladies. Had amnio yesterday at fetal medicine unit and they are phoning me with preliminary results hopefully later today. The procedure was a bit uncomfortable but not bad. Had a scan and the test done by a consultant who talked to us much more than the one at our local hospital last week. She said baby's head is at the smaller end of the range but still in range and could be affected by lying breech at moment. Abdomen and leg measurements are in third quartile so possibly baby will just be small. Preliminary results are for trisomy 13 18 and 21 and we will have to wait up to 7 days for final one re di George.

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Chunkymonkey72 · 31/08/2011 08:31

Thank you all for your help above. It helps to know others are having similar experiences and your advice and good wishes really appreciated x

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CRAZYCREW · 31/08/2011 09:14

oh good luck and I am keeping my fingers crossed for you My daughter is having an amnio in Leeds today to outrule other problems as her baby only has half a heart but she is 21 weeks and could not terminate at such a late stage. I understand every case is different and wish you all the luck and please let us know when you know something.

Nicola x

Chunkymonkey72 · 31/08/2011 16:07

Nicola, fingers crossed for your daughter too. It must be a horrendously stressful time for you all too x

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Chunkymonkey72 · 01/09/2011 18:47

I have today had a call from fetal medical centre to confirm preliminary tests show baby doesn't have downs Edwards or patau syndrome. They need to cultivate the sample for two weeks before they can confirm whether or not baby has digeorge syndrome. They had originally said 7 days for that result but will just have to wait and see. Fingers crossed that as egglet said the heart issue is a stand alone problem x

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misty0 · 01/09/2011 19:18

Oh thats fab news chunky

Lets hope that egglet is right, and also that you dont have to wait that long for your last results. I'm sure all will be fine!

Keep us informed xx

OiMissus · 01/09/2011 20:48

That's great news Chunky! I'm relieved for you. I hope the next results are good too, and that all goes well. Xxx

Chunkymonkey72 · 01/09/2011 22:06

It's been a very long week since we went for the 20 wk scan. here's hoping the last result comes thru soon. The waiting is the worst bit. Thank you all so much for your help and support - veryuch appreciated x

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Chunkymonkey72 · 01/09/2011 22:08

It's been a very long week since we went for the 20 wk scan. here's hoping the last result comes thru soon. The waiting is the worst bit. Thank you all so much for your help and support - very much appreciated x

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