HIGH RISK barts result.....please help

[jellybeans]

Hi I recently had a barts test at 15 wk 4 days and just got a phone call saying it was high risk for downs 1 in 110 (I am 29) I am so sad as have been through this before but the baby had a much rarer chromosome problem and severe issues, I reluctantly had a TOP. It was horrendous but there was no hope. I really can't believe I may have to face all this again.

In regard to what to do next, I have no idea. I had an amnio last time as there was possible treatment avaliable in utero-not specifically to look for problems, I didn't really believe in TOP nor set out to have one. I don't think I can worry all through the pregnancy though.

If it is downs I have no idea what I would do. I don't really know that much but could I cope on top of having 4 kids already? I have seen families that look very happy with a child with Downs.

Please if anyone has words of wisdom about these tests, amnios or Downs, any help is very needed, thanks

I have no experience of any of the issues you asked for; however, just wanted to let you know someone is here

this should be a helpful link

there was a thread recently about high risk pregnancy...can do a link if you would like.......

sorry can;t be of more help x

Thanks. Any links would be great too. Not sure whether to have amnio as risk of m/c scares me, maybe i could ask for a scan?

the scan would again only give you a percentage-they would have to measure the thickness of the baby's neck to establish a possibility.if its definites you want i think theres only one answer. im sure ive read somewhere about Downs babys having smaller nose bones in utero? I know someone whose fifth 'accident' child was Downs-totally a surprise at birth. They cope fine-siblings adore him and mother seems only just as stressed as any other mother of 5!

Follow your heart

found this thread, not the one i was looking for though! will keep searching !

YOu can't have a nuchal scan (where they measure the thickness of the babies neck) as that is done earlier in pregnancy. You can have a detailed scan though where they will look for anomolies commonly associated with DS. This would giive you a clearer idea (I had a friend who had that done rather than an amnio- the scan came back as clear and her baby was fine). The risk of miscarriage following an amnio is officially 1 in 100 (although will obviuosly vary depending on the person doing it), so your risk of m/c following an amnio is still slightly higher than the risk of your baby having DS.

Thanks everyone Am going to ask for a scan and take it from there. Does anyone know if they take into account your previous history when calculating your risk. I was told no this time, but in my last pregnancy was told yes. I am so stressed about all this. I keep thinking that 1 in 110 isn't that bad but then it is the same as someone age 40....

i have posted a long message on the second link that lulumama posted and to answer your questions....

I was given a 20 week anomaly scan (as all women have) and our picked up the fact that our dd1 had a congenital heart defect. This heart defect is very very common to children with down syndrome. We chose not to have an amnio as it would make no difference. This was our baby and she would be born. Whilst the heart defect was serious - it was repaired quite easily and very successfully.

I am sure the blood tests take in your previous history. So when I was pregnant with dd2 - my risk to have a child with down syndrome would be higher as I already had a child with down syndrome iyswim. I did not have a nuchal fold screening test or an amnio with dd2 despite them finding a soft marker for down syndrome at the 20 week scan......

I am now 38 and pregnant with our third child. This time I had a NTS - even though I knew nothing would come of it in that no matter the result again we were having this babe and would not want further invasive testing. My chance of having a child with a genetic disorder started at 1 in 56 given my age and my history ( obviously higher than the average woman my age.)

As jimjams said your risk of a miscarriage from an amnio is greater than your chance of having a child with down syndrome. In terms of babies that are miscarried through amnio - 75% of those babies do not have any genetic conditions....

Dd1 is now a very gorgeous 4yo. She attends mainstream kindergarten, her heart is doing well - almost like a 'normal' heart, she is healty, funny, charming BUT can also be a testy 4yo iyswim.
dd1 at the beach

the longer I am a mum and see dd1 interacting with children her age - the more I realise that dd1 is more than same than different from children her age iyswim.

dd1

nuchal test

varios posts re: living with a child with down syndrome

hope those links help.....

sorry did not realise my post was so long...

Hi Jellybeans. I don't specifically know anything about your predicament but was wondering which hospital you go to? Can you be referred to one of the specialist hospitals? When I was pg with DS I was referred To Kings College Hospital where they spend absolutely ages doing each ultrasound and they were really helpful and informative re. our options.....
Anyway, good luck. xx

Eidsvold, your DD is adorable and thankyou for the links. There is a lovely little boy with DS who lives near me but i would be too scared to approach/ask parents about Downs that i don't know well IRL, although i wish i could. What is difficult is other peoples (IRL) inistance on amnios and that I may not cope with a SN child or that a SN child will negatively impact the child I already have or that DH can up and leave etc etc. Did anyone else encounter this, in some ways I wish I hadn't told them.

Well, tbh late TOP/miscarriage through amnio scares me more than DS at the moment, as I know how bad it was forgiving myself, and that was with a very severe and probably lethal combination of problems. I am worried though about severity of Downs or whether it could be a rare problem again such as trisomy 9, 13, 18 etc.

I rang the hospital and asked if i could have a scan as i have not had one since 9.5 wks. I had another 6 wk scan and there is about 8 days dif between those due dates. So technically, if the first one was right i may not have been quite 15 wks when having the barts, they wrote me down as 16 wks. Could this affect result/should i mention it? However, I am measuing 2-3 weeks larger than dates (DD 1 was big though and 2 weeks 'ahead')

It is unlikely we will have an amnio unless the risk is over 1 in 100. The hospital are reluctant to do a scan but i will try to insist; of not maybe we can pay privately. Leeds do one combined with a blood test/nuchal but not sure if would come back with any better result.

your nuchal scan and bloods needs to be done in a window from memory around 11 - 13 weeks...

you know dd1 is fab but she can be a right little madam - however that is no different to any other 4 yo I have seen in action.....

IF you want more info re DS - you can contact the Down syndrome association UK - they were fab in giving us lots of info and support.

It is hard but I found the best thing that was said to me amongst a lot of very unsupportive comments was by a dear friend of mine. When I was telling her about the cardiac defect and issues - she said that life did not come with guarantees and who was to say that if dd1 did not have any health issues or genetic conditions that she did not have an accident or contract an illness later in life that would severely impact her life. If that happened - what would I do - take her back and say no thank you this is not what we signed up for.

I think what made my decision easier was a very supportive dh who had ( like me ) personal experience of families raising children with ds. It is a very personal decision and other people can only support you and offer advice ( however negative or positive) but of course ultimately you have to do what is best for you and your family. My dd1 will be one of 3 and she adores her little sister and vice versa - the first people they each ask for in the morning is the other - not mum or dad. I know of a family where they are six children - one with down syndrome - they don't seem to have any problems ( from the outside looking in iyswim)

Sorry for the ramble again..... perhaps you can ask for a referral to kings - that is where I had my fetal cardiac scans for dd1 as well as a couple of very detailed anomaly scans done by a consultant.

Thanks Eidsvold

We went for a private scan/bloods/nuchal (the later nuchal fold one) and it went well, no signs of any genetic probs on scan (I understand they can only be seen half the time though). If the bloods are same (find out next week) then the risk can be halved to 1:200 (about 5 times higher than my age risk). So hopefully we won't do anymore tests. The hospital are very pushy towards amnio though, they even said the risk was more like 1:1600 but went on to say there was a m/c from it not long back (and they only do 100-200 a year.)

If the baby does have Downs then we will deal with it at birth/onwards and having been through late TOP once before could not go through that without SEVERE reason. I am glad people have posted positive stories and pictures of their beautiful children who happen to have DS, thankyou. Will update next week in case anyone else is going through simelar.

Am currently waiting for my blood tests to come back, i'm 16+4. Though i'm only 19 (20 when baby arrives) and have been told i'll probs be 'low risk' i cant stand the waiting. It's an awful time not fully knowing if everything's ok isn't it? But the way i look at it, even if my baby proved to have downs, its still 100% my baby and will still be loved completely.
Anyway i'm rambling! Try and chill out with it, relax and enjoy your pg - easier said than done i know!
There's loads of fab women on here that will chat away if you have Q's, good luck and keep us all posted!
Happy christmas

jellybeans we were so lucky - when they found the heart defect at 20 weeks and said basically that it meant dd1 would also have down syndrome, the cardiologist said to us there was one way to know for 100% ( rather than the lesser around 80% or more)and that would be to have an amnio. Now the amnio would have been done at Kings by prof nicolaides ( guru of amnios) but I said no thank you it would not make a difference. I can still remember it like it was yesterday, I was laying on the bed and tensingmy body for an argument with him thinking he would try to bully me into an amnio....

surprisingly he simply said - if it is not going to make a difference then there was no reason to put myself through such an invasive procedure as it would be unnecessary.

However have since heard lots of stories with women being bullied into having amnios....