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Pregnancy

Edward's and Patau's syndrome

17 replies

bethandfreyaruby · 16/08/2018 19:22

Myself and SO are currently 13 weeks pregnant.

We have recently received the combined screening tests, that you can have alongside your 12 week scan, which have come back "high risk" for Edward's and Patau's.
We have been to see a consultant today who have scanned us again, and diagnosed (I don't really think that's the right word but I hope you get the jist..) a two vessel umbilical cord. He said in the scheme of things, he would usually not worry but because we are high risk, he said our results came back as 1 in 100, it may be an indication that there is an issue.
We are now booked in for a amniocentesis to try get the diagnosis if our baby has either syndrome, for in 12 days.

I have looked through and read through some threads, but I feel like I have worried myself more.
I am just looking for help/advise/anyone who's been through a similar situation? I know the percentages are still relatively low in the grand scheme of things, but my mind is going into overdrive!

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Liz3891 · 16/08/2018 19:25

Yes, remember that 1 in 100 means a 99% chance your baby is perfectly healthy!

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sexnotgender · 16/08/2018 19:28

My daughter had a 2 vessel cord.

She does have some congenital abnormalities but obviously NOT Edwards or Patua’s.

She’s currently a stroppy hormonal 14 year oldSmile

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hendricksy · 16/08/2018 19:36

We were in the same boat , I don't think it's that unusual to get high odds . What age are you? .

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bethandfreyaruby · 16/08/2018 19:38

Liz- I am trying to keep a positive mind set but as you can imagine, there's always that niggling in the back of your mind!

sexnotgender- were there any other complications with the two vessel? I'm conflicted about looking at google as it will more than likely send me into panic mode!

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bethandfreyaruby · 16/08/2018 19:39

hendricksy- I'm 23! And i hope that's the case :)

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sexnotgender · 16/08/2018 19:52

Nothing particularly related to the cord as far as has ever been mentioned to us. It seemed incidental almost to her other conditions. We did see a geneticist and they didn't seem particularly to focus on the cord.

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hendricksy · 16/08/2018 20:10

Your age is in your favour .. 🤗

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bethandfreyaruby · 16/08/2018 20:25

Sexnotgender- thank you for sharing. I hope they don't effect your daughter too much, and hopefully she will get out the hormonal teenager scene soon!!

Hendricksy- really? Can age contribute to a higher risk?

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AnythingNotEverything · 16/08/2018 20:32

We didn't have the two vessel cord issue, but had a risk score of 1 in 133 ish last year. We paid privately for a NIPT - basically as good as diagnostic as it tests the baby's DNA in the mother's blood. It was money well spent, and was zero risk. I would recommend it if you can afford it.

Our results came back as 1 in a 6 figure number and baby is now asleep on my shoulder, perfectly healthy. I'm so sorry you've got this worry. It really clouded what should've been a happy time, announcing our pregnancy to friends and family. The NIPT took only a few days.

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bethandfreyaruby · 16/08/2018 21:03

AnythingNotEverything- our consultant seemed to think the amni was the best way. He kinda dismissed going private so wasn't really sure. I know it's a low risk through the amni but suppose no risk is better.

Oh bless. Glad everything worked out for you 😍

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WhatAnAbsolutePenis · 16/08/2018 21:19

The problem is, it isn't 99% chance the baby is fine.
Only the blood test is saying that. Once it's coupled with an anomaly such as two vessels cord, the risk becomes higher. Sometimes much higher, depending on the anomaly.
Age at this point, has absolutely nothing to do with it either.

OP, I'm in a similar-ish position to you but I'm much further along. My baby has an issue with his heart and whilst our blood results were extremely low for Edwards and Pataus, we are at risk of him having 22q deletion.
I have a fetal medicine scan with a consultant tomorrow and talk of an amniocentesis.
Personally I don't see the point in the amnio at this point as I'm too far a long to terminate (for me. I know technically I still can).
If I was around 12 weeks I would have the amnio.

Best of luck. X

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hendricksy · 16/08/2018 21:26

I would ask fir a micro array too if they are doing an amino . It won't show up everything but it will show up more than the two FSH tests .

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bethandfreyaruby · 16/08/2018 21:52

WAAP-
Exactly. I felt like today's appointment made me feel at ease but at the same time I feel like I'm just pushing it aside so I don't panic!

I'm sorry for the struggles you're having and hope everything goes okay for you tomorrow. Update us as to what happens if you are in a position that you're happy to do that. Sending you lots of well wishes x

Hendricksy- what's that?

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hendricksy · 17/08/2018 07:04

It's a general genetic test, I believe they do it now with the amino but the odds are high for Patau and Edwards ( same as with me ) which for me ( and it's personal obviously) are no option syndromes . I would have terminated mid pregnancy . The micro array may pick up other genetic issues . Make sure you ask why the issue may be there . I wasn't armed with this information or knowledge and although my son didn't have either of those syndromes he isn't a NT child although we were told he would be .. this was quite a few years ago and the micro array wasn't even available .. just be aware it is all about probability and genetics is not an exact science .

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sexnotgender · 17/08/2018 07:51

I was 21 when I had my daughter, age was not a factor.
I’m now 17+6 with number 2 - we are getting extra scans and under the foetal medicine team. 12 week scan looked ok but waiting for more scans.

My daughter has tetralogy of fallot a congenital heart defect and congenital scoliosis plus a few other minor issues. We have been through a lot medically but I wouldn’t change her for the world.

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le42 · 17/08/2018 15:30

I had CVS at 14 weeks (could only get amnio at 16 weeks) as we were told we were high risk from the scan 1:89 > It was a horrible time, but we got the results to say everything was totally fine. They usually ring you 4/5 days after the test to let you know about Downs, Edwards and Patau, and then it's another 4/5 days to hear about any other abnormalities.

Fingers crossed for you, I know how stressful it can be, all the waiting!

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bethandfreyaruby · 17/08/2018 19:36

Hendricksy- thank you for the info- I will definitely ask about that! Thank you

Sexnotgender- fingers crossed everything will be okay for you in the next few weeks. I'm sure it will be, but I'm with you with the worry!
I can only imagine what you've been through with your daughter, but I bet it's all worth it

Le42- thank you for sharing your experience. I'm glad everything worked out for you x

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