Baby may have Downs ?

[smurf508]

Hello everybody.

I am am looking for advice/experience and would appreciate any feedback.

At out 12 week scan the baby was fine and the nuchal measured 1.2
We were stunned when we got a phone all this week that with the bloods they put us at high risk and that we had a 1 in 25 chance of downs.

Obviously being worried we booked for a private scan at the Fetal Medicine Centre yesterday for a detailed scan and a Harmony Test.
The scan was fine and the nuchal was measured at 2.1 so still in range.
Unfortunately we have to wait for 2 weeks for the results as it gets sent to the US.

The baby is an IVF baby and my wife is 39.

I know 1 in 25 means a 96% chance baby doesn't have downs but we sadly lost our son this year with a condition called CDH (Congenital Diaphragmatic Hernia) and that happens to 1 in 2000 pregnancies.

I just wanted to see if anyone had the rough same odds and the results came back fine. I have read the test can sometimes be wrong.

If anyone has had the same experience I would really appreciate your feedback or your thoughts on the NHS combined screening.

Thanks

I'm sorry to hear you're facing such a stressful time and I am very sorry to hear of the loss of your son.

My last two pregnancies, I have faced similar high risks. With my last, the risk was 1 in 34. It would have been fine, a normal size nuchal, were it not for the terrible bloodwork. The PAPP-A hormone was 0.23MoM which is very very low. My son does not have Down Syndrome and has typical chromosomes.

This pregnancy was even worse. I was told 1 in 5. This was driven by bad bloodwork again (5.43MoM for bHCG, which is ridiculously high) but also by a borderline high nuchal. However even with a good nuchal, I still had odds of 1 in 16. Harmony says my little girl does not have Down Syndrome or any of the other trisomies tested for (I am 21 weeks now)

Both times I went to the FMC like you. It's a wonderful place.

With my son I refused invasive testing until 32 weeks when it is pretty much safe, so I effectively "waited it out" for 20 weeks. During that time I lived on forums, hearing results. In all that time only one person had a positive result based on bloodwork alone - nearly every other person with a positive result had a borderline or high nuchal too, and some even had normal bloodwork.

The bloodwork can be out of range for reasons other than trisomies - it can indicate previous bleeding (has your wife bled at all? my high bHCG is being put down to that) or placental issues (my son was noticeably smaller at birth than my older two girls) or it may mean, as it does in most cases, absolutely nothing of clinical significance whatsoever!

The NT screening produces a LOT of screen positive results but obviously the vast majority of those babies have typical chromosomes. Some people opt not to have the NT screening at all because they don't want the worry at all, or face the choice of invasive testing. Hurray for Harmony at least, as at now, even though there's a longer wait, you no longer have to risk the baby to find out.

I have been on the wrong end of odds with pregnancy before (although with a better outcome) but I can totally understand that feeling that if you have been "the one" before, why not again? It is hard to feel rational even though statistics are statistics.

Let us know how it goes!

Hi Crispy many thanks for sharing your thoughts and experience, I am very happy that your results came back fine.
My wife did have very slight bleeding in about week 4 but that was more spotting and the hospital said it was probably old blood.
The waiting is the worst but hopefully I can get comfort from other people's success stories.

Bleeding in week 4 is pretty normal as it's usually when the period would be due anyway.

The waiting is horrible! But once you get the results it feels weird too because you've spent so long worrying about it!

A good board to lurk on for seeing results is the Babycentre amnio board - it's very high traffic compared to here so there's lots more "stories" to read. It was created long before Harmony etc but as a high traffic board it seems to have embraced the new tests. I found it very reassuring when I was waiting it out as it was so rare anyone ever actually got a positive with bloodwork alone.

community.babycenter.com/groups/a2895185/amniocentesis_support_information_group

There are other related boards there which you may find useful too.

However in terms of support, MN is the best still

Thanks crispy for pointing me to that much appreciated its very kind of you.

I had a 1:15 result predominantly due to blood work in 2010 with my second son. The nuchal was 2.6mm, but the papp-a was very low (0.39MoM) and bHCG was 1.65MoM. I was 35 at the time.

I had a CVS and the results were clear, no chromosome abnormalities. My little boy is 2.5 now.

I would echo what has been said above - it is much more likely to be a positive outcome if the scan was good and the bloods are throwing it off. Your age will also be skewing the results (sorry!).

I'm really sorry to hear your news, but there are worst things that could happen than to have a baby with Downs. It might be worth you doing some research, or meeting some older children or adults with the condition to put your mind at rest a little.

Hi all again, we decided to get results of the combined test sent to us which we received this morning.

My wife's HCG bHCG was 1.87 and her PAPP-A was 0.14

I wish we never asked for the results by wife is inconsolable and as being crying all morning we never expected the PAPP-A to be so low and are even more worried. We are still waiting for the results of the Harmony but with such low PAPP-A is it inevitable there is a problem ?
The stats we are looking at from the studies are certainly not in our favour.

Any words of wisdom would be greatly appreciated.

Further to my post for anyone who reads that this is an IVF baby.
Is there any further tests we can have done that anybody knows about ?

After losing one child I can't believe we could again such have bad luck again!

Speak to these people they are AMAZING
www.arc-uk.org

1 in 25 is only 4%. To put it in perspective, the odds of getting out the first trimester are around 75%.. a far bigger hurdle. Not to mention the odds of your success at IVF!

If it is any consolation, when I was doing my lurking on forums often when PAPP-A was that low, things turned out to be fine. This was because there was a reason that wasn't Down Syndrome for the PAPP-A being low if you see what I mean? In some ways, getting a result of 0.35MoM would be more worrying. I remember seeing some charts on a research paper somewhere and most cases of Down Syndrome did not have crazy low PAPP-A - the mean was 0.39MoM I think. I just had a good look and I can't find the research paper with it in again, but it is out there somewhere!

So if it's not Down Syndrome, it may well mean there is some issue with the placenta.. BUT.. so long as she is monitored for growth in the third trimester the outcome should be just fine. I have a friend who had crazy low PAPP-A as well - her son did have IUGR and thanks to the additional monitoring they delivered him safely at around 34-35 weeks and he is absolutely fit and healthy! Even with a value that low, IUGR is not a given - she was quoted a 1 in 5 chance by a Kings College fetal medicine doctor - the same ones as at the Fetal Medicine Centre. She just got unlucky.. but long term her son is just fine.

The bHCG is just fine - anything between 1 and 2 is not an issue really. And take heart in the low nuchal fold too. There is lots to be positive about, but I fully understand the worry having lived it myself! It's a lot easier to reassure somebody else than it is to live with the fear yourself.

I hope the next few days pass quickly before your results - keep us updated when you get them!

Thanks Crispy I appreciate you giving us some valuable information.
I am just praying that all this means is that the baby may be on the small side, and I have read that IVF babies apparently record low levels of PAPP-A, but nothing as it what happens to their future growth.
We should be getting our Harmony Test results back next week, so fingers crossed.

It's frustrating because if there is an issue from low PAPP-A, it's not apparent until several months later, so you're in suspense all that time! Pregnancy is stressful enough anyway without having something like this hanging over you. You have my sympathy, as I've been there with my last pregnancy.

This time out with my crazy high bHCG of 5.43MoM I'm facing it again, but the research connections with poor placental function are not as clearcut, and hopefully it is just that high as a result of some early bleeding I had. But there's always the niggle.

Hi Smurf,

We have a son with down syndrome if you want to PM me and ask me anything you like? I'll be objective for you. I think the best thing is to arm yourself with info and see how you feel…?

He's 2 and 3/4….

Update : Well we finally got the Harmony results yesterday evening and got the all clear. We thought we would have to wait till Monday as FMC clinic told us we lost a day as it was a bank holiday in the US so we thought we would have to worry over the weekend, so was surprised when I got home from work and my wife told me the great news. After what happened with our first son we have been so mentally and emotionally wrecked it is such a shame as we just what to be normal and enjoy the pregnancy.

Thank you again to everyone who took the time out to comment and from being on so many forums I take my hat off to all the ladies you seem stronger than us men !

CrispyFB : Thanks again for your contribution, I was clinging onto some of your facts. I spoke to a Bio Chemist who has been doing these combined screening results for 20 years (wish I hadn't he made everything more bleak) and you were right in that the PAPP-A generally is more higher in the MoN value of about .35 to indicate a sign for DS.

Final question as I am blabbing on now. We see our consultant on Tues and the main topic will obviously now be about the low level of PAPP-A.
Crispy how often did you get scanned (wife is now 15 weeks) and did they put you on any meds ie baby aspirin etc. We won't be getting scans at our local hospital we will be going to the UCLH in London, and I just want to be equipped with as much information as possible to address this issue which I am praying wont be an issue. Any further words of wisdom would be appreciated.

(TelephoneTree thanks for your message x)

I am very glad to hear your results came back clear at least! That must feel like such a relief.

I was only scanned the once at 32 weeks I think, but consultants vary. For instance with my high bHCG this time, I am getting scanned at 28 and 34 weeks. Not because high bHCG is more risky or anything, but because my current consultant just does growth scans then.

If you're dissatisfied with the timing/amount of scans you're offered you can always go back to the FMC for one. Costs money of course, but you know how it is. I've supplemented NHS scans with private ones for other reasons (incompetent cervix) in the past and it does bring peace of mind.

Then again if you are going to UCLH you will almost certainly be in good hands which should bring you some comfort!

I was not put on baby aspirin with my low PAPP-A but a friend with low PAPP-A was (she was seen at Kings College, I was seen at a rather rubbish outer London hospital) so it's definitely something to ask about. I am self-prescribing baby aspirin this time out as I found a research paper linking better gestations/weight with baby aspirin where bHCG is very high. There could well be something similar for low PAPP-A.

Hopefully all will be fine though and the low PAPP-A was just one of those unexplainable things!

UCH are fantastic and one of the leading hospitals in the world. You will be in good hands.

Definitely don't self prescribe yourself anything as for all the positive you may read, there are also potential severe down sides. It's very important that you are prescribed appropriately for you. Get a second / third opinion if needs be.

So pleased for you and your wife, smurf

After what happened with our first son we have been so mentally and emotionally wrecked it is such a shame as we just what to be normal and enjoy the pregnancy.

Of course you do, but don't give yourselves a hard time if it's not that easy. I'd guess many of us here would agree that it's almost impossible to 'be normal and enjoy' when you've been shattered before.

Let us know how it goes on Tuesday?

Thanks again for everyone's reply, fingers crossed all will be well, I am hoping we are due a bit of good luck !

fwiw I self-prescribed baby aspirin because the sooner I started it the better, and thanks to a huge screwup with my GP and their admin, I couldn't get a referral to see a consultant for another 3-4 weeks. My consultant was fine with me taking it when I told him. I did look into all the risks and benefits and couldn't see any issues for me personally.

Hi CrispyFB long time no speak but I just wanted to see how you were getting on and that you and baby are ok ?

The latest from us is that all is going fine which is a relief. We had a 24 week scan this week and no reported problems and baby is 1 lbs 9 ozs which is a good size. We are still nervous but as we are being scanned at UCLH we feel we are in good hands. This apparent low PAPP-A is still stopping us fully enjoy the pregnancy as it is always in the back of our mind, but at least baby is currently doing fine.

Hope all is well with you.

Glad to hear all is going well and especially after the anatomy scan too! Hopefully things will continue to look good at your future growth scans too - so long as they have an eye on things, the outcome is usually extremely good! You really are in one of the best possible places.

Doing well here too - now 32.5 weeks. Last growth scan at 28 weeks showed a very average size baby, and I have another one in just over a week. It seems my consultant likes to do them at 28 and 34 weeks which is fine by me!

It's seems so sad to wish the time pregnant away but believe me, I do it constantly. Once you've had a loss or even a horrible scare, you can never fully relax until they're safely here. I hope the remaining few months pass quickly for you both, and keep us updated!

Am glad to hear you and baby doing well, you must be getting excited as the time get's nearer. As you say as long as they keep an eye on things hopefully everything will be ok.
Please also keep us updated on how you are getting on.