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Antenatal tests

Very worried dad soft markers on scans

23 replies

challis1987 · 28/07/2014 15:56

Hi guys me and my partner are expecting , at the twelve week scan they had a soft marker of fluid behind the neck , we was scanned a week late by a consultant with a more intense ultrasound , where he discovered the nasal bridge bone was not visible also the baby has rocker bottom foot/feet , our chances of downs are 1-103 but possibly could be Edwards or patau syndrome has anybody had similar scans and could shed some light as obviously we have taken news quite bad , if baby has downs we are not worried but the other two syndromes are quite scary , unfortunately my partner does not want the screening test as possible chance of miscarriage , any help advice or personal experiences would be greatly appreciated thanks in advance

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RowanMumsnet · 28/07/2014 19:44

Sorry to hear this challis1987, it must be a scary time for you. We've moved this to our Antenatal Tests and Choices topic now.

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Lally112 · 28/07/2014 23:20

So sorry challis, I don't have the experience of they syndromes you mention but at our 20 week scan, our son was suspected to have a heart defect called transposition of the great vessels. It is a hard knock to take and I too refused the amnio because of the risk but we decided to read up and prepare for the worst.

The hospital set up a consultation with a paediatric cardiologist so we could ask questions and get answers and we prepared for the worst.
The hospital kept a close eye on us and DS was seen by the cardiologist straight after birth who diagnosed something different called pulmonary stenosis that was fixable with a heart valve transplant but not forever, and transplants would be needed every 12 to 15 years.

Use the time to read up but don't terrify yourself on forums, try to stick to proper websites - for us it was the british heart foundation websites.
if you prepare for the worst then everything else is a bonus. I really feel for you both, it isn't easy and I am not going to lie to you and tell you it will be.

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Elderflowergranita · 29/07/2014 13:43

Very sorry to hear your news. Unfortunately without amino, it won't be possible to get a definitive answer to your concerns.

However, the detailed anomaly scan at around 20 weeks should give you a clearer picture of how your baby is developing.

Have they offered you further scans before that?

It's a dreadfully difficult time for you both, and I hope you have good support.

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challis1987 · 30/07/2014 01:02

No our next scan is the 5 september , Our families have taken it quite bad and dont think we are doing.the.right thing continuing the pregnancy.and.woreied.how we will cope worst case scenario , its just so.hard to know what to do , thanks for you repies x

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ilovevenice · 30/07/2014 01:25

So sorry you are going through this. If you want to talk it all through with someone, I found ARC (Ante-natal Results and Choices) were great. ARC Our situation was completely different but they were wonderful.

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daluze · 30/07/2014 15:58

Sorry to hear. You might want to explore the options for non-invasive prenatal tests, Harmony or similar, which are done from maternal blood and have no risk of miscarriage. In most cases they are only available privately and cost few hundred pounds, but some hospitals in London piloting them under NHS. Best of luck and take care.

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wilmabedrock · 30/07/2014 16:37

I'm sorry for the worry you're going through and hope your baby is ok.

If you are looking for information and support regarding Edward's and Ptau's syndrome you could contact SOFT. www.soft.org.uk/ My friend was pregnant with a baby with Edward's syndrome who unfortunately passed away just before he was born. It was obviously devastating but she was glad that she had carried on with the pregnancy. As with any genetic condition, the severity of the conditions vary immensely and hopefully you can find some useful information from the SOFT site.

Sorry your family aren't being more supportive, I hope they'll stand by you no matter what decision you make.

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user301204 · 30/07/2014 16:52

Hi challis, sorry this is all so difficult. The NHS offered me an extra scan with a consultant at 16 weeks in lieu of an invasive test. Could you ask for that? ARC were also helpful, and I was looking at the SOFT website last night and it had some very useful information. Unfortunately you can't be entirely sure what it means for you until you have an invasive test. In the meantime, perhaps you can direct your family to SOFT so that they also have more information and can perhaps support you better?

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challis1987 · 01/08/2014 10:21

Thanks for your replies ita nice to know.people care and.have experienced simular , and we.arent alone in.this no no.extra.scans next one.is.5th september but the consultant has.made.himself.avaialble.for our scan.which is.nice.of.him as.he.is.from.a.london hospital x

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SaggyAndLucy · 04/08/2014 20:27

have a hand to hold.
I was where you are, my odds rose and rose until we got to 1 in 5.
I felt the same as you, DS is one thing, Edwards/Pataus is quite another. However I did have a cvs as I needed to know. I don't think I could have continued in those situations.
You should consider the harmony test. its non invasive, but I'd also add that cos gave me a definitive answer and really was a weight off of my mind. apparently the risks listed for the invasive tests are higher than they actually are. things have got a lot safer in recent years.
As it turned out, DD does have Downs. my family, like yours were very anti us continuing with the pg. I think the problem is they are too close to the issue. They want 'the best' for you.
My advice, in hindsight, is to talk to people a bit more removed from you. Friends, acquaintances, MNers have all been invaluable and have a much more perspective. And as for Google, try and stay away from anything other than the top official websites. otherwise, you'll come across stuff which will tear your heart out and really isn't relevant if you investigate.
I'm very glad I knew definitely in advance, it really helped, and now she is here, DD ROCKS! I wouldn't change her if I could and everyone adores her.
You're going through a rough time, it's horrible, but it does get better. Once you get a clearer idea, you calm down and have time to think. Things become 'normal' very quickly.
If you want a chat, or if your wife has any questions, feel free to pm me.

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challis1987 · 14/08/2014 11:06

Thanks for your kind words of supports guys unfortunately my partner has decided that she cannot continue with pregnancy as not fair.on our two girls from previous relationships , had amino on monday , never prayed.so much in my.life for the all clear , hopefully get results tomorrow and if it comes back edwards or patau she goes.in to be induced saturday and will deliver baby martin on monday , genuinley feel like my.worlds fallen apart and finiding out it was a boy at amino on monday has only added to.the pain , i would like to say a big thankyou to everyone for the support and.words of.advice and sympathy really has helped me cope x

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BlackbirdOnTheWire · 14/08/2014 11:33

Hope you get the results you want. At least you will have the knowledge to make a decision; for us the uncertainty was the worst phase.

FWIW we had a far higher than 1 in 2 chance (>99% in fact) due to a 14mm nuchal fold measurement (well, 4+mm fold with a 9+mm fluid-filled cyst coming out from the tip of the ear to below the shoulder).

I'd dithered about amnio because of the risk of miscarriage (somewhat ridiculously, with hindsight, as the consultants and fetal medicine MW were trying to prepare me for the probability of miscarrying before the amnio date). However, the stats quoted are way out of date anyway, around 20 years old, and the experience of the person doing it also matters. In our case the consultant said that he had done several hundred amnios and not lost a single one to miscarriage as a result of the amnio - but some had miscarried due to the chromosomal abnormality. E.g. If it turns out to be Edwards/Patau, miscarriage is likely anyway.

We too had made the decision that if the condition was incompatible with life, we couldn't go through with the pregnancy as it wouldn't be fair on our first child - and that it would be easier on both of us, particularly me, if it was done at the earliest stage possible. I think there are very few people who would argue with that decision - anyone who's been in the position understands that each couple needs to do what's best for them as a family, physically and emotionally. For some people, continuing with the pregnancy until it's natural conclusion is important, but for others the impact on existing children takes priority over all else. For the sake of your children, I think it's really important to understand what you're dealing with as early as possible too.

On the other hand, if it turns out not to be a condition incompatible with life, but a condition which may involve heart defects, etc, the amnio results will at least alert the doctors and you will be sent for further detailed scans. If you went ahead you'd have appropriate care on standby for the birth and be giving your baby the best chance.


Don't give up hope until there's none left, though. Despite the measurements and the less than 1% chance of viability, our amnio came back clear and the cystic hygroma spontaneously resolved over the next few weeks. All cardiac and abnormality scans came back clear too, and our miracle son is now 2.5. I'm all too aware that good news stories are few and far between (three previous miscarriages...) but, you know, just sometimes things work out so much better than they first appear. I wish you the best of luck.

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user301204 · 14/08/2014 23:08

Challis, I will be thinking of you both tomorrow and hoping for good news for your family. For us, the uncertainty and waiting was so hard. You're definitely not alone.

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challis1987 · 15/08/2014 11:59

Hey guys results are in and not good lots of abnormal chromosones , absolutely gutted not going to get to meet our little man , worlds come tumbling down off tp hospital at four thirty to be induced ??

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ChickenMe · 15/08/2014 13:48

So sorry to hear this. Really heartbreaking news.

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user301204 · 15/08/2014 21:21

I'm so very sorry for you. You are where we were but just a week later. I don't know what else to say except so far we are getting through it, and that the support from family, friends, hospital and strangers has completely taken us by surprise. I was thinking of you this morning and will continue to do so. Take care of yourselves.

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Greyhound · 15/08/2014 21:30

So sad. I miscarried a baby (my fourth loss) with Trisomy 13 before my son was born. It was the worst thing ever Sad

Thinking of you Thanks

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Mumof3xox · 15/08/2014 21:33

Thinking of you and your partner op x

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TodaysAGoodDay · 15/08/2014 21:58

I'm so sorry to hear this. I'm thinking of you both x

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challis1987 · 21/08/2014 09:46

Baby James entered and left the world on sunday at 7.38pm weighing 16oz the midwifes and staff were brilliant and tried making it as confortable as possible for us , Thankyou for.your support and kind messages your support has certainly helped me somewhat , my partner has taken it very hard she hasnt really slept since i think shes had 7 hours altogether its sorta hitting me in waves creeps up you after you think youve managed to control it , we only got a little bit if time with our little man but it was precious and shal never be forgotten , thank you all once again xx

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LBNM19 · 26/08/2014 22:38

Xxx

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user301204 · 02/09/2014 19:30

Challis, I'm so sorry to hear that, but glad (like us) that you had a good experience in the hospital. I'm thinking of you, your partner and beautiful baby James as you get through this.

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marne2 · 02/09/2014 19:36

So sorry, my thoughts are with you and your partner xxxxx

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