DS test 1:85 - what to ask at consultation

[broodylicious]

Hi all. Looking for advice please.

I'm 17+5 today with dc3 - we have dd who is 2yrs 11m and I mc dc2 at 12 weeks almost a year ago.

When I went for my 12 week scan, baby was partying so hard in there, the sonographer couldn't get the NT measurements she needed so I was put down for a quad blood test. Those results came back this week and I've been given a 1 in 85 chance of ds.

Despite initial shock and lots of emotional outbursts, I am not feeling too down or worried about this possibility. First off, we don't believe in abortion (unless for a properly full on medical reason/baby wouldn't live beyond a few weeks) and secondly, if I was backing a racehorse at 85/1, I'd be backing a rank outsider.

Therefore, we have already decided to refuse the invasive tests (amnio/CVS) because of the miscarriage risk (don't want to go through that again!) and because it wouldn't make a difference to us in terms of continuing with the pregnancy.

We have a consultation at the hospital on Monday and I was just wondering what I should be asking while we are there? Is there anything obvious I need to know? I was thinking about whether we would get extra scans, would have more medics at the labour/birth, do we get more checks in those first few weeks? Just looking for advice really, please, ladies....

I'd say you need to ask about extra scans to pick up soft markers.

Without an amnio it cvs they won't be able to tell for certain if your baby has DS.

I'd ask for additional heart and brain scans, as far as I'm aware it is usually brain and heart problems that make T21 incompatible with life. I guess this is what you need to determine. Even if an amnio came back positive for T21 they wouldn't be able to tell you if it was server enough for it to be non survivable.

I would ask them what soft markers they would be looking for as the pregnancy progresses.

Fingers crossed for a positive outcome.

Great stuff, thanks kitty.

There are also non-invasive tests available for fetal DNA from maternal blood, unfortunately only privately (unless you are in few selected hospitals in South East, which take part in NHS trial), and cost start from ~500 pounds. They would give you pretty much definite answer.
Otherwise you may ask for an anomaly scan to be performed by fetal medicine unit specialists in your hospital (or a referral to one, if your hospital doesn't have one) rather than regular sonographer, so you can get more detailed scan and they could especially look into baby's heart in more detail (which is the most common problem associated with Down syndrome, but usually fixable by surgery after birth).

If they find anything you will be given more tests, eg a heart issue you will get additional scans.

I have a DS with downs, diagnosed post natally. So just two midwives there when he was born. He is my joy.

Hi daluze. My appt on Monday is with a consultant from the fetal medicine team at my local hospital so I'm guessing a more detailed anomaly scan is a possibility? Definitely something I'll be asking!

Hi I have a daughter with DS and am happy to answer any questions you might have, please feel free to PM me. We have 3 children and she just fits into our family and brings a lot of laughter.

In terms of your appt ask about soft markers such as heart, limb length and the nasal bone structure.

Have just had a lovely day skiing with my daughter, she never fails to impress all she meets.

Thinking of you. X

Ah wips, that's a lovely thing to say about your son

Thanks lala. Also a beautiful thing to say about your dd. This is exactly why we would never terminate the pg - who knows what our children are capable of?!

Another proud and happy and madly in love mummy of a child with DS. My DD is 1 and had her heart repaired at 12 weeks. It was a serious problem and a scary time but she's never looked back. I wouldn't change her for the world!

I'm in a simlair situation. I have been given a 1in90 mainly due to a 3.5mm NT but the blood work wasn't too high. PAPPA was 1.2 and HCG was 1.6 on a normal of 1. The consultation was really informative. I asked what the bloods meant. How they worked it out, etc. I'm having an amnio on Thursday so I asked about that and I'm having a heart scan on baby the following week. I asked about the NT as it's not just a DS indicator. I felt it was quite positive and it put my mind at rest. I have no idea what our decision will be if it is a DS baby. Like you I don't think I could go though with a termination unless there is something seriously wrong. But I'd like to know what I'mdealing with. Good luck!