High risk for Edwards, Patau's and Down's syndromes

(82 Posts)
Mummy2O Thu 07-Jan-21 18:20:37

I had a call from the screening team at the hospital today to say I have a 1 in 22 chance of Downs and a 1 in 9 chance of Edwards and Patau's syndrome.

I am scared stiff. I have opted to have a CVS. Can anyone tell me what to expect or offer me any reassurances. The statistics are feeling very overwhelming at the moment.

I had a missed miscarriage in Oct 2019 and this is our first pregnancy since, so this is playing on my mind. I also have a 4 year old.

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Booni Thu 07-Jan-21 22:58:36

@Mummy2O hello, sorry you are going through such a difficult time atm. I had a MMC in Feb 2020 but managed to get pregnant again in August 2020. Unfortunately after my 12 weeks scan the results came back high risk
I was 1 in 14 for DS and 1in 13 for Edwards and Patau.
I had to wait for the Amnio test (15 weeks pregnant) It was the worst time in my life but all results came back clear. Keeping my fingers crossed for you 💐

Mummy2O Thu 07-Jan-21 23:09:47

Thank you for sharing your experience.

What was the test like? Do you see the needle etc? Did it hurt?

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Booni Fri 08-Jan-21 07:32:35

@Mummy2O it wasn’t too bad. I am not good with pain but it was rather uncomfortable then painful. It was also very quick. I didn’t look at all. I was holding my boyfriend’s hand and was looking away. Before the Amnio test doctor scanned the baby again. He said he can usually spot the signs of Edwards and Patau on ultrasound but in our case everything was fine. He still suggested to go through Amnio to check for Down Syndrome and I did. Have they spotted any markers on your 12 weeks scan? In my case the scans were good (NT was 2.5 but there weren’t concerned about it) but my blood results were really bad - I had a very low Pappa. In the meantime I also went for a non-invasive, private Harmony test in London, however there wasn’t enough DNA in my sample and that’s why I decided to do Amnio to be 100% sure. When is your CVS test? X

Mummy2O Fri 08-Jan-21 07:37:59

My NT was 3.3 which didn't seem to alarm the sonographer, so I am guessing it is something in my blood and my age (I'm 38 in two months). The nurse I spoke to didn't really say what was going on in my blood sample.

I am waiting for the appointment for my CVS. I am 13 weeks today though so I am guessing it will be soon.

The whole thing is terrifying me. I didn't sleep a wink last night.

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Liveforholidays Fri 08-Jan-21 21:59:11

Hi, sorry to read you're going through this. This page was a lifeline for me this time last year so idip in and out of it every so often to shed some words of wisdom! I had a 1 in 13 chance of having a baby with downs syndrome (Edwards and pataus low risk). I opted for the non invasive screening test as I was terrified of having an amnio. This came back as a 'highly unlikely' result with no evidence of any abnormalities. I had a normal nuchal measurement but very high hcg and very low papp a (0.37) plus I was 39. I won't lie I was very anxious throughout pregnancy and wished at times that I had had the amnio to be absolutely sure all was OK. It was.... 9 months of worry for nothing!
Good luck..... And remember the numbers are screening only.

Mummy2O Fri 08-Jan-21 23:26:17

Thank you. I need to keep reminding myself that the numbers are screening. It is so hard not to panic.

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notinthestarsigns Sat 09-Jan-21 05:32:47

I’m so sorry you are going through this, I have been there and it is such a difficult time, the only thing I can advise is taking one day at a time and trying to get through each day. I haven’t got any experience of the CVS as I had an amnio, the procedure itself was unpleasant, and I was very nervous, but it was over with quite quickly, the wait for results was much more difficult than the procedure itself! If you have any more questions just ask x

TopBants Sat 09-Jan-21 05:48:02

Good luck with it.1 in 9 is only 11%. The odds are still very much in your favour. flowers

MyOtherProfile Sat 09-Jan-21 06:26:56

My chance of baby having Downs Syndrome came back as really high but it turned out to be just because I was almost 40 and in fact baby was fine. I hope you find the same.

Mummy2O Sat 09-Jan-21 18:24:05

I really need to remember it is an 11% chance. It Sou ds better than 1 in 9 somehow!

I have my CVS booked in for Thursday, so should have the results early the following week. I am just keeping everything crossed.

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tami2k Sat 09-Jan-21 23:43:47

Just bare in mind they are just 'likely's' at the moment so just wait until ur cvs try not to stress too much at this point just be prepared. They predicted me 1:5 abnormality just have to be strong and ready for whatever is meant to be. I'm waiting to get my cvs on Monday I just hope it's successful I can't wait anymore x

Mummy2O Sun 10-Jan-21 00:28:10

Good luck for Monday. I hope it goes OK for you.

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Seagullslanding Sun 10-Jan-21 00:53:41

So sorry that you are going through this, i was in a similar position over 8 years ago. I'm an older mother, 45 at the time, so my risks were high.

Before the actual CVS they carry out a scan. What you need to remember is the staff carrying out the scan and the CVS are more specialised than those you see at the usual 12 week scans. They are specialists in abnormalities they can pick up any problems or in my case lack of issues straight away. my scan was actually carried out by the consultant.

When they did my scan they told me that they were sure there was nothing for me to worry about, however due to my history and age , they would understand and fully support my wish to continue with the CVS. i went ahead with it. All i can say is that it is completely different from the 12 week scan. It is essential that the CVS is conducted safely and so to do that the concentration/dedication of the staff is palpable, the room went very quiet, i could have heard a pin drop. Equally, it was done very quickly and very professionally.

The hardest part was the wait for the results, i was advised to have some mini-project to distratct me.

I really hope everything goes well for you - take care of yourself. x

CountessFrog Sun 10-Jan-21 01:29:14

I had a high risk of downs with my second child, chose amniocentesis because, like you, I had a four year old child to consider as well as ourselves.

The procedure was painless. Healthy baby.

Krazynights34 Sun 10-Jan-21 01:51:33

I was 37 at my first (full term pregnancy). I had a 1 in 40 chance of Down’s. I didn’t even get that this was high risk (she didn’t make it but that was for other reasons).
My only living child had a “perfect” 12 week scan, low risk of those syndromes, but at 20 week scan, small anomaly noticed (much more serious when she was born).
I guess I’m trying to say, let the CVS tell you. Sonography isn’t always right

Merry2510 Sun 10-Jan-21 04:01:33

I had the same, very high risk of Edward's syndrome, I was 36, had a scan, but the baby was in an bad position to scan, they couldn't see any of the obvious markers they look for, my opinions were to wait a week, and rescan, or get a aminocetis done. I choose to get the aminocetis, it was fine, I was obviously upset, but it wasn't sore. I went home and rested, and my surprise 3rd is now a healthy 14 year old!!

Mummy2O Sun 10-Jan-21 09:23:29

Thank you all for sharing your experiences. I don't know anyone who has been through this so it is good to hear I am not alone in this.

@Seagullslanding I will have a think about some mini projects I can do to take my mind off it. That is a great idea. Would you mind sharing what the procedure was like?

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Mummy2O Sun 10-Jan-21 09:25:59

@Krazynights34 I am sorry for your loss. Thank you for sharing your experiences with me.

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Soontobe60 Sun 10-Jan-21 09:32:08

Mummy2O

My NT was 3.3 which didn't seem to alarm the sonographer, so I am guessing it is something in my blood and my age (I'm 38 in two months). The nurse I spoke to didn't really say what was going on in my blood sample.

I am waiting for the appointment for my CVS. I am 13 weeks today though so I am guessing it will be soon.

The whole thing is terrifying me. I didn't sleep a wink last night.

I was 35 when my risk came back as high. My consultant pointed out that if I’d been 5 years younger they wouldn’t have called me back for further investigations. I had amniocentesis. It didn’t hurt at all. Results came back clear.

Mummy2O Sun 10-Jan-21 09:47:08

I feel really guilty for not having got my stuff together earlier in life.

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Mummy2O Thu 14-Jan-21 14:45:31

Sadly they couldn't do my CVS because my placenta is at the back and they couldn't get to it safely. I've got to go back for an amniocentesis on the 1st. They've also taken blood for a NIPT test.

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TopBants Thu 14-Jan-21 15:05:42

Hopefully the NIPT gives you some reassurance. Sorry the CVS didn't pan out. flowers

notinthestarsigns Thu 14-Jan-21 15:35:44

Sorry you are having to wait longer. I also had to wait until I could have an amnio when I was in your position, and even then they couldn’t do the amnio the first time I went for it so I had to go back a week later! I hope you are doing ok, the waiting is so tough xx

Mummy2O Thu 14-Jan-21 16:10:59

Thanks. The waiting sucks, but I am pleased they wouldn't try anything risky if they weren't sure. The team at the hospital were all so nice.

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