Waiting it out till birth after bad bloods. When will I find out if my baby has downs?

[loopy11]

Hi,
I'm looking for a bit of advice. After the triple test I was given a 1:15 chance of my baby having down's syndrome. I didn't have a nuchal fold scan as my midwife forgot to book me in (!). We decided not to go for invasive testing as I wasn't comfortable with the miscarriage risk and we decided it wouldn't affect whether or not we had the baby.
So I've been left in the situation of waiting until the baby is born. I've been trying to stay positive and enjoy my pregancy as normal but I am now 33 weeks and thoughts of the birth are becoming more real now...
Does anyone know how soon after the birth I will find out whether or not my baby has Downs? Will the hospital staff be aware of my risk and if so will they offer additional support/testing after the birth?
Anyone who has been in a similar situation or knows someone who has - any information would be great.
Thanks.
PS. I am 31 years old and this is my first baby.

downsyndrome.about.com/od/diagnosingdownsyndrome/a/Diagnosisess.htm

This link gives some information.
The karyotype profile, the same as you have with the amniocentesis in pregnancy, gives a definitive diagnosis; this is a blood test from the baby, it takes a few days to get the results. However, there are some physical characteristics which will give an indication also.

You may want to look into the possibility of a late amnio (much safer than a regular 2nd trimester one) if you want to know before delivery day.

Otherwise you can usually tell on the day (or doctors can) but a few do slip through. Given your numbers I expect they would look extra carefully though. Otherwise you would have to wait for the testing as mentioned above.

I'm 29 weeks waiting it out for 1 in 34 so I can relate.

Did you have the ordinary 20 week scan - sometimes soft markers show on that I think.

If you want the hospital staff to be aware of the risk, write it in felt tip in many places over your handheld notes. (not sure if they would be aware).

Hi Loopy - I don't really know where to start except to tell you my story. We did exactly the same as you but were given a 1 in 5 risk of DS. We didn't have invasive testing for the same reasons as you and a cardiac defect (AVSD) was picked up at the 20 week scanfter that scan, the medics said they were 95% sure that he had DS.

I know it is different for everyone and you may have read some of my threads already but I gave birth to a gorgeous boy 12 days ago and we have all fallen completely in love with him!

Anyway - coming up to the birth I suddenly got cold feet about how I could possibly cope and was actually quietly terrified about meeting him for the first time - not really knowing what to expect. My waters broke and my body started shaking uncontrollably as I was so scared about what was to come (not the labour, just meeting the little fella and how I would feel). I ended up having to be induced 2 days later because labour didn't start naturally.

He was born after a 1.5 hour easy labour and I turned round to see him and knew instantly that he had Down Syndrome - I just scooped him up saying 'oh you do have down syndrome' and asked the midwife to cut the cord asap.

The consultant had come in to see us while we were waiting for the induction to take effect and asked what we were planning to do with respect to cutting the cord. I said that I wanted to wait until the cord had stopped pulsating and he said that if baby did have DS, then it would be wise to cut the cord asap because most of them are born with polycythaenia ('sticky') blood and allowing more blood to be pumped in to them by the pulsating cord can exacerbate the problem and that if this was the case, he would need blood taken away and saline added to dilute his blood down. This made perfect sense so we agreed to have the cord cut straight away. He also said that it might not be obvious whether or not he had Down Syndrome though usually they can tell but that they would send off a blood sample for full karyotyping and results can take about 5 days.

We had a big cuddle and then consultant came in and examined him and then said that he thought that baby did have Down Syndrome and that he wanted to take him in to the neonatal unit (room next door) to check him out properly and do an echo to check his heart and scan his head too etc. So, quite quickly, I had a shower and we all walked round to neonatal unit and they checked him out. They did end up having to do the dilution on him anyway. He thought he found something extra going on with his heart and transferred us to another hospital but it all turned out to be fine. He also had some jaundice so had phototherapy for a night but everyone was fantastic and made sure we had all the info we wanted and answered any questions that we had etc. Not once did we feel scared, worried, anxious or out of our depth. It was all very calm and relaxed.

Anyway - he took a bit longer to get breast feeding going becuase he was so sleepy! SO sleepy!!! But perservere I have and all is good and he's gaining weight etc. We have had a couple more appointments since just for routine checks to do with his heart defect plus another because he has Down syndrome but it's all very low key.

DH and I were saying today that apart from day 1 when we really noticed his DS features, we just don't see them any more and neither or us were expecting that! He really does seem just like any other baby and he;'s totally won us over!!

Remember - I am so happy to read this and to hear how well things are going!

Very interesting about the cord cutting too - learn something new every day!

hi sparklies - how long do you have left and how are you feeling about it all? are you ok?

Hello Loopy,
I didn't have any testing done during either of my pregnancies so it was a total surprise to us that our son has Downs. He was diagnosed at birth and I was completely unprepared for it and did go into a bit of shock I think - it's all a bit hazy now. That said, we coped pretty well with the news but I do remember that I instantly loved the very bones of him and felt so 'close' to him right away, for want of a better word. The midwives handled everthing brilliantly, really supported us but backed off when we needed space. They were fantastic.

Like Remembertoplay's little one (congratulations!! btw) there were stays in neonatal etc but life went on, we lived to fight another day and he's 5 this year and doing really well. We all are. His sister is 14 months older and ADORES him. They are as thick as theives one minute and fall out five minutes later over toys just like all siblings should.

The reality has turned out to be nothing like anything I imagined late at night lying awake worrying about the future. Sure he hits his milestones a bit later than some but he's basically just a four year old cbeebies addicted kid with dirty knees and a snotty nose who happens to have Downs syndrome. And we wouldn't change him.

Such lovely stories.... I think they are the first ones I've read that made me smile. Thank you

Remember - Thanks for asking! I'm 29 weeks today, with a scheduled c-section at 38w2d but given both of mine were pre 37 weeks I am not holding my breath on hitting that date, even though I have a seriously hardcore cerclage in place this time out!

Still undecided over the amnio at 32 weeks - I will ask the doctor on the day and if I am not completely satisfied I will decline it. Preterm labour is a risk I'm willing to gamble with, losing the baby altogether is not! It's at Kings College so one of the safest places in the world to have an amnio, but still..

To be honest I'm finding it very hard going mentally - I spend a lot of time dwelling on it especially as I have been "the one" in a lot of previous pregnancy situations although not for chromosomal stuff. It's very hard not to obsess as I am sure you know. I've ended up pretty depressed over it all, so to get an answer one way or the other sooner rather than later would be such a relief.

I love reading stories about parents who ended up with babies with Down Syndrome because in nearly every case they seem to be dealing with it far better than people might expect and it isn't such a huge issue in the end after all. And that in many if not most families, they can bring so many positives. So I know it isn't the horrific diagnosis some, including some doctors, make it out to be - this is partly why I'd never terminate. I am more worried about DH who refuses to even consider our baby might not have normal chromosomes. He was pretty ambivalent about a third anyway, so if this baby does have special needs it could cause real issues within the family as a result, as I don't know if he has the patience. But then again any baby could have special needs, even the chromosomally normal ones.

I'm particularly pleased to read that breastfeeding is going well for you both despite the early issues - this is something that matters a lot to me (I'm still breastfeeding 2 year old DC2!) and I would be gutted if I couldn't breastfeed DC3.

Poochela, that's really lovely to hear :) he sounds great!

I must also say, that for me, if I'd known when I was pregnant what I know now, then I wouldn't have totally obsessed about it and been constantly checking the antenatal choices threads for a glimmer of an answer. Hindsight is a wonderful thing!! Regarding DH, I totally understand where you are coming from - it's a tricky one. I personally would have stuck with my decision not to have invasive testing BUT that doesn't mean to have it is the wrong thing to do - it's all personal preference isn't it.

It IS exhausting wondering and wondering and playing everything round in your mind but it does all end at some point! for me - at the birth.

Another thing that totally took me by surprise was when a couple of people after the birth (family/friends) said they were sorry DS wasn't well. I took it to mean the cardiac stuff but it turned out that they were referring to the DS too. I was so surprised because that is so far from how we see him. He's as strong as an ox and perfectly well and apart from the heart thing (no symptoms), there's absoltuely nothing wrong with him at all!

It took me a minute to twig what they were going on about and I have to say, I just thought they were being drama queens !

I now say - he has DS but he doesn't mind and neither do we. Soon sorts that conversation out. I think we're all stuck on how things were when we were kids but having said that I also remember that we were being taught about not being racist at primary school - i rememeber then thinking 'why would I be. what does it matter what colour skin you have'. It was the adults that made a big deal of it, not us kids! I notice a generation difference in the approach to DS now too.

I had a 1 in 50 and my son was born without down syndrome. However, he now has t1 diabetes and asthma which are quite a challenge. We never know what the future will bring.

My close friend has a beautiful girl with down syndrome who is a joy and delight. She is nearly 11. My friend had clear tests throughout here pregnancy and only found out after the birth.

Hello, no personal experience but I think Kelle Hampton writes beautifully about the birth of her daughter who has DS.

Thanks for all the replies everyone. Its great to hear such positive stories from people who have actually been through this.
babyapplejack - there were no soft markers picked up at my 20 week scan. Although this was hugely reassuring, we were told that ultrasound only picks up about 50% of abnormalities so our risk factor did not change.
I know that we will love our baby no matter what. I guess its just the fear of the unknown that is getting me down, especially as its my first baby so I have all the normal fears about childbirth and life with a newborn and this is just an extra anxiety that we're having to cope with.
I'm going to make our risk factor very obvious on my notes and birth plan so hopefully we will get some information soon after the birth.
Thanks for all the advice and happy stories - they are really helping me to stay sane for the last few weeks!

That's a fantastic idea for something to say "He has DS but he doesn't mind and neither do we" - what a great response! Yes, I have to admit I am afraid of what others will say and think - part of my need to know in advance is so I can prepare myself for that. Pity is the last thing anyone would want.

loopy - that's exactly it - fear of the unknown! Once you have an answer, it is much easier to take control and move forward. Not having an answer means loss of control and for a lot of people (including me) it's not an easy thing to deal with.

I'm not that techy so hopefully this link will take you to a short film you might like.

xxx

Hi all. I'm 38 weeks today, with a 1 in 19 for Downs, stretched to about 1 in 40 after a series of scans with no markers at all. We're booked in for an induction next Thursday if the little one doesn't make an appearance on her own before then.

Like sparklies, we were thinking about a late amnio at 30ish weeks but in the end decided against as we'd coped so far and had reached quite a chilled place, and our consultant reckoned we'd be unlikely to get quick results as the lab is so inexperienced in late amnios, so it'd have been another week or so for the results.

After all that, the consultant suggested a blood test at birth would take about 48 hours to clarify Downs or not, and that we might not be able to tell on sight given all newborns are a bit squashed! But they'd have doctors on hand anyway to check.

Thanks for your story remember - it really helps to read how you've been doing, and I wish you all well.

Spaceal - can I ask why you are under the care of a consultant? I haven't been offered consultant support - is this something you pushed for or have you gone private? I'm sure I would feel better if I could discuss things through someone who knows what they're talking about. So far the only advice I've had is from my midwife who has told me to write it into my birth plan.

spaceal - good to hear from you! Guess you don't have to wait much longer now :)

loopy - if your PAPP-A was low (which is one of the common things for screen positive for Down syndrome) then you should really have been referred to a consultant as it can also be an indicator of growth problems at 28 weeks plus. I don't know if they refer for "plain old screen positive" as there's little they can do.

loopy, when we said no to the amnio they offered us scans every 4 weeks with a wonderful fetal medicine consultant. All on the NHS. They did mess up our screening results, failed to tell us we were high risk until I called 5 weeks after the 12 week scan, so kind of had some making up to do, but we didn't have to push for this at all. They offered. They've been amazing since the mess with the results.

I can't remember how many weeks you said you were now - is it too late to ask for extra scans?

Likewise sparklies, have been following your related posts on various threads and hoping you've been doing ok. Our waiting is indeed almost over - but no imminent signs of arrival yet, just lots of Braxton Hicks! I'm feeling pretty positive but the Downs risk does still worry us...

Thanks for replies. The blood results I was given following the triple test were for AFP (Alph Beta Protein), hCGb and uE 3 (Uestriol? 3). Maybe I wasn't tested for PAPP-A? Very confusing!

spaceal - If you're anything like me, you'll be having good days and bad days! I can imagine it's getting particularly tense in the final few days though.. it's one thing being able to put off thinking about it too deeply in the middle bit (not that I managed that either!) but towards the end it has to be as bad as waiting for THAT phonecall. Only you really have no idea when you will find out as you're at the mercy of your body! I hope you don't have to wait too much longer.

loopy - Most places don't do the triple test now (I think) if the NT screening and bloodwork has been done as it's not as reliable. I would guess the quad test is when they have the triple test but include PAPP-A.. I don't actually know as it's not routinely done for everyone here!

Hi, with my DS I noticed something very fleeting when he was born and asked the midwife. We had no idea he would have Downs, nothing on the 20 week scan and he has no heart problems. it has been a different first year from what I imagined, but we love our little boy and he is loved by many others too. I don't even really compare him to our other DS, he will reach his milestones in his own time.

After we asked the midwife to check she said she wasn't sure and got another midwife, they then said they were going to ask a paed to fond and look at him. We pretty much knew then that he would have it. The paed was really nice and said she wasn't 100% but "there was enough" for her to think hd did have it. A consultant confirmed it by obs the next day. And we also had a blood test done. I cannot praise the hospital staff enough. I sobbed over one midwife and another one just let me ramble on. The consultant spent a fair bit of time with us and came back the next day in case we had any more questions. The nhs has been amazing!

remember good to hear your baby is here safe and sound. Hope all is well.

Please pm me if you want any more info.

Hi Wips - that must have been a shock - at least those of us given a higher than we expected risk factor end up going through the thought process before the birth and so have reached a place further on than we would if we'd just found out. I suppose in that sense, the screening is very helpful regardless of the outcome.

When you say the first year was different to what you expected, do you mind if I ask in what way?