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1:37 Chance of Downs

(23 Posts)
LizzyBee123 Wed 29-Jul-15 13:53:34

Hi, I'm new to this site and need to off-load, and hopefully get some advice/reassurance/support from anyone going or who as gone through through the same as me…

I'm pregnant and had my 12 week scan yesterday. My nuchal fluid measurement was 3mm (anything above 2.5mm is considered high), my blood results were also abnormal - 0.44mom for PAPP-a and 0.56mom for b-hCG (they should both be 1). Together these results give me a risk factor for Down's syndrome of 1:37. I going for a Harmony scan and blood test this afternoon at the London Ultrasound Clinic.

Has anyone had similar results to these and gone on to have a normal/successful pregnancy? I'm worried about the high nuchal measurement but also about the low PAPP-a reading.

I'm 36 and this is my third pregnancy. The first ended in a silent miscarriage which was detected at 12 weeks, the second pregnancy was straight forward and I had my beautiful baby boy last Jan.

Has anyone had the Harmony scan and test? What were your experiences?

At the moment I am 12wks + 5 days. The cut-off point for having a miscarriage under general anaesthetic is 14 weeks (next Friday). I probably won't get the results of the Harmony test by then. Which means if serious problems are shown up and we choose to terminate then I have to go through with 'giving birth' awake. I'm petrified about this prospect. Has anyone else had to go through this? What should I expect? I'm thinking that given the timescales I should go for a CVS as the results would be conclusive and come back quicker.

Has anyone had to face the awful decision of whether to continue with a pregnancy when Downs, Edwards or Patau syndrome have been diagnosed? I am trying to prepare myself for all eventualities….

Any help or advice greatly appreciated. I feel like I am in a bubble right now and nothing seems real...

Newlywed123 Wed 29-Jul-15 14:07:46

I personally haven't been through this, but I'm at a higher risk due to my SIL having down's syndrome.

It's a tough one really, the only way to know for Sure is to have an amnio (think that's right) have they offered you one?or wait for baby to be born. I've seen many stories on here of woman having a 1:2 chance and baby being born without one of the syndromes.

MrsLeighHalfpenny Wed 29-Jul-15 14:10:24

Can you try to talk to parents of Downs children, or the children themselves, to help you make your mind up? There must be some charity or other organisation who could help you with this. flowers

Metalhead Wed 29-Jul-15 14:14:03

Hi lizzie, I'm sorry you're going through such a worrying time. I went through a similar experience a couple of months ago: although my NT measurement was normal, my hcg was 9.12mom (!) and my Papp-a 0.7mom, giving me a 1:85 risk for Downs.

I'm pleased to say that I had the Harmony test done at the Portland hospital and the results all came back as low risk (got them back within a week). I'm now 21 weeks and so far everything is looking normal, so don't give up hope! I know how hard it is when you've had such a shock, but there are plenty of women out there who were given high risk results and went on to have healthy babies. Good luck!

EldonAve Wed 29-Jul-15 14:14:30

www.arc-uk.org/ may be able to help you

Did your NHS hospital tell you their cut off is 14 weeks?

Good luck this afternoon

Monkey44 Wed 29-Jul-15 14:28:22

Hi Lizzie, I had experienced a similar thing. My combined test result gave me odds of a 1 in 69 chance of down syndrome, based mainly on my blood results, that were a bit off. we had the nifty test, which is similar to Harmony ( as opted for non invasive test over the amnio as was concerned about risk of miscarriage). At the clinic I was advised that 1 in 20 women at age of 36 ( my age at the time) were classed as high risk, based on the age factor alone.
The nifty test results came back in approx 10 days and were very low risk ( think 1 in the billions) and no further testing was advised. Our DS was born last week and is a healthy happy baby.

I hope this offers you some reassurance, as it is a difficult thing to experience. Wishing you the best of luck

LizzyBee123 Wed 29-Jul-15 14:45:23

Hi newlywed. Thank you for your post. I have been offered a CVS or an amniocentesis.

The CVS can be done straight away but you have to wait until wk16 for an amnio. Both carry a risk of miscarriage and both are highly accurate. I have chosen to go for the Harmony test as it carries no risk (it's a scan and blood test that gets sent to the USA).

Mrs halfpenny, yes, that's a good idea. I have already been on the Down syndrome association website. There are lots of positive stories but my emotions are swinging between acceptance and fear. But I think it's a good idea to find out more...

LizzyBee123 Wed 29-Jul-15 14:48:02

Metal head, I'm happy to hear of your story. Thank you. Fingers crossed it will be the same for me. I'm on the train now on my way to the clinic. I hope my results come through quickly. Wow that's high hcg! Just goes to show that the blood test results aren't everything. Best of luck xx

LizzyBee123 Wed 29-Jul-15 14:50:52

Monkey, thank you so much for taking the time to reply even though you have a newborn! Congratulations and thank you for telling me your positive outcome. It really helps. I feel totally lost at the moment. So that's great to hear your good news too xx

LizzyBee123 Wed 29-Jul-15 14:54:30

Thank you EldonAve. I've had a quick look at the arc website. It looks really good. The hospital said 14 wks is cut off date for ERPC under general anaesthetic which I had with my first pregnancy after a silent miscarriage (no fetal heart but my body was holding on to the pregnancy). After 14 wks you can choose to terminate but you have to be awake throughout the procedure. Which is what I'm dreading. X

Perspective21 Wed 29-Jul-15 14:58:45

This has just popped up in my active section. I just wanted to say I had a 1:7 chance of a baby with DS and indeed our son does have DS. He is now five and a half and the most lovely and lively little boy imaginable, don't write off a child with DS until you've done some serious research...whatever you do, please make an informed decision. I know many children with DS and we socialise with them and their families and yes, we have a few additional needs between us but we all just consider our children with Down's Syndrome to be just the same as our other children. They are no less valued or loved...in fact my boy is the most joyous of all my children.

Perspective21 Wed 29-Jul-15 15:00:35

Please check out websites Down's Side Up and Don't Be Sorry for accurate, modern advice about having a child with DS.

Perspective21 Wed 29-Jul-15 15:01:54

Side Up Be Sorry

Perspective21 Wed 29-Jul-15 15:03:38

www.google.co.uk/search?q=don't+be+sorry&ie=UTF-8&oe=UTF-8&hl=en-gb&client=safari

Perspective21 Wed 29-Jul-15 15:04:20

www.google.co.uk/search?q=downs+side+up&ie=UTF-8&oe=UTF-8&hl=en-gb&client=safari

Bluepetra Wed 29-Jul-15 15:14:14

Hi, I went through the same thing as you but my nt scan gave me a 1 in 20 result for downs only. We were devastated and didn't know where to turn, I chose to have the Harmony test as it seemed the safest option. The harmony test really put my mind at rest as it came back low to no risk. So glad I had it.

LizzyBee123 Wed 29-Jul-15 20:44:27

Hi perspective21. Thank you for your lovely message. It's so good to hear such a positive story and you really made me smile. I'm most worried about the pregnancy ending in miscarriage or stillbirth. I think that if we found that we were having a baby with Down syndrome that we'd need to learn as much about it as possible. So I will check out all your links, thank you. The only experience I have of a child with ds was a little girl we met at a wedding a few years back. She was so cute and charming an full of energy. She really enjoyed dancing all night! Your post made me think of her. It's a shame that at the hospital when you get a high risk reading all the emphasis is put on managing the pregnancy and planning termination. They should also give you a fact sheet about Down's and links to helpful websites so that you can educate yourself. There are so many different complications, health issues, learning issues etc etc that life can throw at you and it seems to me that ds is not so bad!! Thanks xxx

LizzyBee123 Wed 29-Jul-15 20:49:45

Hi bluepetra, thank you for your post that's good to know that you got the all clear. I had my second scan today - the sonographer was a lot more positive. She got a reading of 2.7mm which is 0.3mm lower than yesterday. Also she said that my PAPP-a was not too low (I was freaking out about my score of 0.44 because I convinced myself this would lead to heart problems). Anyway, fingers crossed for an all clear from the Harmony test results in 8-12 days and a healthy pregnancy. Xxx

Drivingforpeace Wed 29-Jul-15 21:11:01

Hi Lizzy bee,
My DD was given a 1:49 risk but she was born healthy without DS and is now 15 months old. I also had a silent miscarriage detected at 12 weeks with my first pregnancy, and then I had a boy who is now 3. I can't remember what my blood results were. I think you will be fine! The nuchal fold measurement is good and I think that is kind of more important than the bloods isn't it? Personally I would try not to worry (ok impossible, but try not to analyse too much) until you have the harmony results. I think it's too early to be researching. The next 8-12 days will drag, but you will know for sure soon. I wish you all the best. Preganancy is such a worrying time! I found it so stressful mainly because of the miscarriage first time which I found very traumatic. And the phone call from the hospital to tell me I was high risk with my DD was so daunting and came as such a shock, I wasn't prepared for it at all. I always remember my dad saying to me straight after - '1 in 49? That's nothing! That's only less than 2% chance!' which made me feel much better!

Cazzybaby Wed 29-Jul-15 21:12:34

Sending you lots off strength through this difficult time! My daughter doesn't have Downs but does have a chromosome 7 duplication. We didn't find this out until after she was born, and she is now the most beautiful 7 year old. She has learning difficulties and is also physically disabled but she is the happiest and most determined little girl who brings me so much happiness. Having a child with additional needs is very challenging but teaches you to value the things most take for granted and really opens your eyes to a whole new way off thinking. I can't put into words how much love and admiration I have for her, and am now pregnant with number two. Although I hope this baby is ok, there is a chance he may also have difficulties, I think the not knowing is the worst bit. Once you have a yes or a know answer you can start to accept and to prepare at least.
You might feel that once you know either way a decision may be easier as your stuck in limbo at the moment. Stay strong and positive xxxxxxx

Preminstreltension Wed 29-Jul-15 21:19:21

OP just to say I had a TFMR post amino at 16+ weeks under general. Through Marie Stopes. I felt the same as you - the idea of a birth was horrific. So you do have options. But also the odds are hugely in your favour. Hugely.

CakeInMyFace Thu 30-Jul-15 12:30:26

OP just to say my very close friend went through this and had a 1 in 18 chance of downs, and everything was absolutely fine, she was born completely healthy. Their little girl is now 1.5 years old. I also know someone who had a 1 in 1000 chance and their little boy was born with Downs Syndrome. He is an absolute delight and an incredible little boy.

It must be a very difficult time for you, keep strong and once you know the results you'll be in a better place to make a decision / or accept and prepare.

ImpatiencePersonified Thu 30-Jul-15 13:45:16

A good friend of mine who is only 5 days behind my due date had worse odds than you, opted for a CVS and knew within a day that her baby was absolutely fine - all scans etc since have indicated no problem.

We're both due in around 8 weeks now.

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