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Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

what should I expect after getting an 'increased risk' result on Down's syndrome blood test? Help!

43 replies

tomtum · 10/09/2008 20:44

Had a letter today to say an 'increased risk' had shown up, and to go for an appointment tomorrow. Don't know what to think - any advice would be gratefully received...

OP posts:
mslucy · 11/09/2008 21:55

Pluto.
Have just posted on the feb 2009 thread.
I had a similar experience to elkie - my bloods were fine but nuchal dodgy.
I am also older - 38.
I had the CVS done and felt very reassured as it was done by the Professor of Fetal Medicine at UCH who was a calm and wonderful man.
If CVS/amnio is done by a skilled person then the risks are much lower than the headline figure suggests.

eidsvold · 11/09/2008 22:09

I was told at 20 weeks pregnant that if my daughter was born without down syndrome it would be very very rare. We chose not to have any further testing - for a number of reasons.

Dd1 was born with a heart defect and down syndrome. I have posted a lot on here about her - will try and find a thread that has a more detailed account of our story.

dd1 at one

Pics on my profile have dd1 as a babe and at 6. (she recently had her 6th birthday.)

Found this post -

I could write a long post about what it is like to have a child with down syndrome. My dd1 has just turned 6. She is amazing. She was born with a congenital heart defect that was repaired with two open heart surgeries at 8 weeks old. Healthwise - she has never looked back.

She attends a mainstream school as well as one day a week at a special education unit. She is doing so well we are looking at full time mainstream any day now.

Her language skills have improved out of sight and she is just coming on in leaps and bounds.

At school the children fight over who sits next to dd1, who works with dd1.

She is a real social butterfly - very outgoing and loves to chat and socialise. In fact I have to drag her away from school as she wants to stay and chat with all the teachers and parents.

She spent a year in nursery when we lived in the UK prior to emigrating to Aus as I went back to work full time. She has attended a mainstream kindergarten for two years prior to starting school.

I have lots of posts on here about her. She adores and is adored by her two sisters. In fact the baby is very proficient at cheering dd1 on. She can do a YEH RA RA(what she calls dd1) so well.

She has made our life so different and yes there are some tough times - handing your tiny baby over at 8 weeks old for open heart surgery is not a great thing. We have spent a lot of time, energy and some expense accessing therapy for her. Think that has made a big difference.

Dd1 did not walk until she was 3 - then she sprinted. I used to think she would be my special olympian swimmer - now I think she could be my sprinter!! grin

Our antenatal story - at 20 weeks they diagnosed a very serious heart defect which would have meant at least three open heart surgeries before one and if she survived to be a teenager - probably a transplant. We were sent to London to see a fetal cardiologist who diagnosed a different heart defect - complete AVSD - holes in her heart ( serious holes) and a dodgy AV valve. He also said to us that if she was born without down syndrome it would be very very rare. We were then offered an amnio by Professor Nicolaides and we said no. Why - well this was our babe and she would be born. We would deal with it one day at a time. We would sort the heart defect and if she happened to have ds - well so be it. I think dh and I were very fortunate that we knew families with members who happened to have Down syndrome. These people - one was about my age ( in his 30's at the time) and one was a teenager. We had not seen anything to be afraid of. We were more worried about her heart.

I have since learnt in speaking with dd1's cardiologist that our chance was roughly 1 in 5 of dd1 having down syndrome.

I have no regrets about this life and am constantly amazed at how far she has come. To see her determination and her love for life. To see life through her eyes - so many people to chat to and interact with and so little time. Such joy in simple things. Her compassion and empathy for others. As I type this she is running amok with her two younger sisters - doing what siblings do.

The only sadness - that my daughter lives in a world in which some people cannot see past labels and their own prejudices to see the amazing little girl that she is and the amazing young woman she has the potential to be.

eidsvold · 11/09/2008 22:11

oops that turned out to be very long.

If you do a search for my name and down syndrome - you will find lots of posts about living with a child who has down syndrome.

I am off to take dd1 swimming and do the school run. I will check back later and try and find more links for you.

Ohforfoxsake · 11/09/2008 22:15

Great post Eidsvold.

laughalot · 12/09/2008 10:47

Hi ladies glad you are now more in the picture about the numbers. As I said before I was 1/100 and I thought my world had ended. We made the decision to have the amnio as we made up our minds that we dident want a child with special needs. It sounds awful and at the time we had many nasty comments made by different people which I think is wrong at the end of the day its up to you as adults to decide what is best for the family. We were called every name under the sun for considering a termination. I was very lucky and the results were fine and I went on to have a healthy ds however now I am older and a bit wiser I think my descision now would be different if I was told my child would have special needs. Make sure you do lots of talking with your partners and support one another in your descision. If anyone wants to know about the amnio just let me know. Good luck.

Eidsvold your post really tugs at my heart strings x

sarah293 · 12/09/2008 17:25

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sarah293 · 12/09/2008 17:26

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laughalot · 12/09/2008 18:32

I did think twice about posting that as thought it may start a big debate as I said I was alot younger and it seemed the only option at that time in our minds .

sarah293 · 12/09/2008 18:51

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sarah293 · 12/09/2008 18:56

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laughalot · 12/09/2008 19:20

Its funny actually because I thought the amnio ruled everything out these things arent explained properly at all. I look at him sometimes and think how could I have ever thought about a termination. Is such a tricky subject this one and I think people should be made more aware of the test results ect. My ds school teacher has suggested we take him to the docs as they are thinking he may be bordering on aspergers but that is a whole different story.

laughalot · 12/09/2008 19:23

Just looked at your profile and I love the one where your dd is in the sea. And your ds with his hair women would kill for hair like that

Peachy · 12/09/2008 20:50

laughalot we were in a similar position to you wh ds3- high risk for ds. we chose not to have amnio (literally ran away from hospital after being bullied into attendance by mw).

ds3 does not have ds.

DS3 does have a disability, most probably autism. he has severely delayed speech and a other delays . no test on this planet could have tested for that. ds3 is also a real blessing.

I detest the way these tests are administered. not because they shouldnt be available (just because I dislke something doesn't make it bad I guess) but because the info around them should be dramatically altered and the true incidences known. Turners- 1 in 2500, Autism- greater than 1 % risk.

I have two kids with sn. 1 is more severe (ds3); 1 is far harder to live with and cope with (ds1) but you wouldnt know for age he had asd.

this last pg i had no tests, no test could give me the answer I wanted: asd?. not that i'd terminate. it's amazing how much you learn (or rather i have) between ds1 and ds4.

Claire236 · 12/09/2008 21:05

My triple test came back as high risk for Downs. Can't remember exactly what the figure was but it was about the same as the risk of miscarriage from an amnio. A very nice midwife turned up at our house one Saturday morning to break the news & explain our options. We decided to have the amnio as we couldn't bear going through the rest of the pregnancy without knowing if our baby had Downs or not. Wanted time to be properly prepared if he did have Downs. I then had the amnio the Monday after the midwifes visit & was very relieved to feel my first proper big kick the next day. Had felt little flutterings but it was like my son was telling me he was ok & not to worry by giving me a good kick. I terrified my husband by crying about it but he was used to that by the end of a distinctly eventful pregnancy. Got a phonecall 2 weeks later to confirm everything was fine & that I was having a boy. Didn't know about the BMI link, mine is lower than 'average'

pluto · 12/09/2008 22:04

I feel so much better today. Thank you for all your postings - they are really helpful. After I had spoken to the screening co-ordinator at the hospital this morning I just felt so much better: she was a really skilled and kind communicator. Anyway, although the risk is 1/ 190 this is infact exactly the threshold for women of my age. (Not 1/ 200 as I was told by the midwife who came calling at the door yestrday afternoon). It's only a 0.5% risk of Downs whereas a miscarriage after amnio carries a 1% risk. As I would not be able to consider a termination it's ironic that I'm really no better informed than I was before the quad tests. We are going to continue enjoying the pregnancy and simply accept that whilst the results of the quad test weren't particulary low risk, neither are they incredibly high: 0.5% chance of DS is tiny. I really do think I can afford to believe things will be fine with stats as low as the ones we've been given.

jenwa · 13/09/2008 07:59

Glad you feeling better pluto and enjoy the rest of your pregnancy.

sarah293 · 13/09/2008 08:18

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tomtum · 15/09/2008 21:00

Pluto - good to hear that the hospital was so helpful. I feel the same about the testing - we wouldn't have a termination, so having an amnio (although tempting, as I feel I could make plans for the future if need be) seems like too much risk just to settle my more impatient feelings.

Eidsvold - your post was much appreciated. I hope I have all the strength that you have, if I find myself in a similar position. Thank you also for talking about all the good times that you have; it's been really useful to read a personal, first-hand account.

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