Please or to access all these features

Add post

Watch this thread

Save thread

Start a new thread

Flip thread

Hide thread

My feed

Active Unanswered threads

Getting started FAQ's

Unanswered threads Acronyms Talk guidelines

Hide shortcut buttons

Talk

Antenatal tests

Get updates on how your baby develops, your body changes, and what you can expect during each week of your pregnancy by signing up to the Mumsnet Pregnancy Newsletters.

Flip

Original poster

Continuing with a high risk of Down's pregnancy

16 replies

mills1234 · 19/10/2012 12:45

Hi, I was just wondering if anyone else on here has had a strong indication of Down's and continued with their pregnancy?

We were 1 in 5 at 12 weeks based on absent nucal bone and very low papp-a, at our 20 week that has gone up to 1 in 4 as apparently there is a hyposplastic nasal bone, which I understand to mean one half has not developed and the other half is very small. We have had screening both on the NHS and privately at the fetal medicine center under Professor Nikolaides.
The consultant and midwife seem very much of the view our baby does have down's and we are seeing a fetal cardiologist next week. Obviously it isn't great news, but it could be far worse. We are not having an amnio as we don't want to risk miscarriage, and would not terminate in any event.

I would just love to hear from anyone else that has had the same kind of results and continued, and maybe had a down's baby, as most of my friends are more of the mindset of having an amnio and terminating in these circumstances. It would just be lovely to know we're not the only ones that choose to do this really.

Thanks in advance.

OP posts:

blouseenthusiast · 19/10/2012 12:50

There used to be a poster called Thomcat who had a downs DD and had very positive stories to tell. Don't know if she still posts ever, but am sure there must be others. Good luck and hope it all works out.

maisiemackenzie · 19/10/2012 12:59

Hi mills.I have a lovely 5 year old dd with down syndrome, I think the main thing I would say is that down syndrome is not as big a deal as you would think..it's a really small part of our lives! Feel free to pm me any questions or start a thread in special needs children. I have to say I avoid this section normally because it is normally very negative about down syndome, so you might find some more answers there!

sneezecakesmum · 19/10/2012 18:06

Also lots of experience of DS on the Special Needs board and all very supportive and positive there

realnappiesmum · 19/10/2012 21:28

Hi, our beautiful little girl was born last week with down's syndrome. We found out at 21 weeks that she had down's and had regular growth scans and cardiology scans. She has a small ASD which isn't causing her much trouble and may resolve itself. She is absolutly adorable and we are so in love with her. We didn't have NT scan or bloods at 12 weeks as we would never had terminated. I agree that there can be a lot of negativity on this section so PM me if you want.

WipsGlitter · 19/10/2012 21:40

I have a child with downs. It was devastating when we found out and there were some dark days.... Now he is loved so much and is the light of my life. We are lucky, we've been told he's at the "more able" end and he has no additional health needs. Please, please pm me if you want to talk more.

ilovemountains · 19/10/2012 21:47

My 30 year old brother has DS and is at the least able end, but he lives in a supported flat, has a better social life than me and really enjoys life. Please stay positive!

Original poster

mills1234 · 21/10/2012 09:08

Thank you all very much for the messages of support. I will have a look on the special needs section as well, as suggested. Many thanks

OP posts:

Secondsop · 22/10/2012 11:20

Hi, we too had an absent nasal bone at 13 weeks but it had grown (albeit only just within the range of normal) by the time of my next scan at 22 weeks. The sonographers spent some time talking between themselves and checking with the consultant before telling me that they were content that it wasn't hypnoplastic (if that's the right word). My downs risk was considerably lower than yours but still above their "high risk" cut off. i declined an amnio because I didn't want to risk miscarriage and I knew I would continue the pregnancy in any event. I did consider having a late amnio at a point where if labour was induced the baby was clearly viable, so that i would know either way, but have decided against that now because I'm happy to take what I get at birth. I would never question or judge any woman's decision not to continue with a pregnancy but for me I knew I wanted the baby anyway. So you're not alone at all in feeling the way you do.

(My baby hasn't been born yet - due mid December).

There are lots of posts on mumsnet with positive stories about downs babies that i found really helpful.

TelephoneTree · 24/10/2012 22:41

Hello hello! I'm another one with a baby with DS. Our 3rd son is now 20 months old and we wouldn't be without him! He was very sleepy at the start and had open heart surgery at 7 months old but that was just a blip in time. Feel free to PM me or ask me anything you like! He's a very funny character - smiles and waves all the time, bum shuffles in the splits position, can catch a fish off a magnetic fishing board without any trouble at all, gives you a cuddle if you ask for one, understands most of what I'm saying, can feed himself, is starting to cruise, will open a drawer take something out and then close it again!, eats paper and tissues when you're not looking, is a total bundle of joy!

TelephoneTree · 24/10/2012 22:43

sorry I forgot to say our risk was 1 in 5, didn't go for amnio either but 'just knew'. Nothing I knew about DS indicated that it was a life sentence for the child so I couldn't temrinate. Personal choice I know and I don't judge those that do. You have to do what's right for you.

freshfruitsalad · 19/11/2012 07:49

Hi, our little boy with DS was born in September, his name is Charlie and he was born with a blocked Bowel and needed an operation to fix it, he is now fixed, he has a small hole in the heart and they expect this to close soon, apart from this he seems in good health. Feeds very well and putting on weight ok now
He is the light of my life and I'm so proud of him, he's just started smiling, his little face lights up :)

I've not visited here for a while as to read the endless threads about families choosing to terminate was making me feel abnormal and was upsetting me (well; I guess it's not normal at less than 10% of people choosing to proceed)
So I certainly know how you feel!
We had the same as you, 1:5 then more scans showed more markers and eventually they talked us round to an amnio, glad we took the amnio for the mental preparation as it still would have been a shock even with a high risk result.
Best website to research the condition is the DSA website, also lots of mums and dads stories on www.futureofdowns.com

booboomonster · 19/11/2012 22:07

Congratulations on your lovely boy, freshfruitsalad! Glad he's doing well. Thanks for posting your experience.

(I am currently pg, borderline high risk for DS, but not having further testing, keeping an eye on these boards but just wanted to say the above!).

devilishmangerdanger · 01/12/2012 20:58

I have tbh and say although it's great to hear positive stories about beautiful kids/babies with down syndrome but remember it is a syndrome and that varies, sometimes immensely.

Another here with a child who happens to have down syndrome (age 11) and our lives have changed dramatically. Low risk, with a niece who has DS in the family.

However it doesn't matter what road we are travelling we all go through similar emotions and issues.

LulaBear · 08/12/2012 01:46

Hi! Not sure of percentage quoted but my sister in law was told she was most likely going to have a baby with Downs. She didn't.

ChippingInAWinterWonderland · 08/12/2012 02:00

SecondSop - how has your pregnancy been? Not long now

jellybeans · 13/02/2013 16:09

I was given a high risk of Downs in one of my pregnancies. We had a private scan but turned down the amnio. I had already been through loss at 24 weeks after 4 weeks of tests and bad results (very severe lethal chromosome problems) and knew what it would entail and we felt we would TOP for very severe chromosomal problems but not Downs unless there was heart etc problems. Partly as there is a lovely boy at DC school with Downs who influenced me to be more confident that we could cope. Sadly I went into labour too early totally suddenly but she didn't have Downs. Wishing you lots of luck.

Flip