Down’s syndrome confirmed after birth?

[NT0211]

Hi

On 20 week scan baby’s nuchal translucency seemed high (but still below threshold) I also had an abnormal screen result during pregnancy for Down syndrome (1 in 70 chance). We followed this up with a private harmony test which came back as low probability.

Baby was born 6 days ago and the doctors thought he was displaying mild eyes set apart and ears slightly lower down. This was checked by paediatricians and they said they weren’t worried.

Two days later he had full too to toe check and they are now worried about the nuchal food thicknes so have done a genetic blood test for which we have to wait two weeks to get back and discuss with doctors.

Baby doesn’t seem to have any other physical presentations of Down’s syndrome but me and my husband can’t stop worrying about what this will mean and there doesn’t seem to be any info online about downs being only diagnosed at this stage.

Has anyone had this before? Could the nuchal food thickness mean something else or only downs?

Thanks

Yes I know someone who was high risk and so did the test for Down syndrome pre birth (the one where they take fluid sorry can’t remember what they call that). The result was that it was very unlikely baby had DS. However after baby was born he was subsequently diagnosed with DS.

It might be quite a stressful and anxious time for you all. My thoughts are with you as I am sure you just want to know what to expect.

My friend got a lot of support from a charity called ups and downs around the time they had their son.

Are you on Instagram op? I follow a few mums on there who have children with Down syndrome- some knew prenatally and one received an at birth diagnosis.
They actively encourage people to get in touch if they need support/ have questions.

My eldest had markers but we declined the amnio so I did lots of research into Down syndrome.

There are different genetic abnormalities that result in Down's syndrome. And some can be "mosaic" meaning only some cells have genetic abnormalities. nuchal fold thickness misses about 30 percent of Down's babies and a fair few are diagnosed at or after birth.
I know that this is a worrying time. There are lots of support groups and hopefully one local to you who will understand about the wait and anxiety (however there won;t be many there who went on not to have a child with Downs and of course this does also happen.

I wish you all love and peace as you wait. your little one is lucky to have you and whatever the outcome they will bring so much inot your life.

It is certainly not uncommon to make a diagnosis of Down syndrome after birth. The important thing is that your little one is well and is facing no issues at the moment.
If you can, I would suggest just focus on getting to know this amazing little person you have made and try not to put lots of energy into the “what ifs”. However, if you feel it would help you to learn more, I suggest you look up the organisation Positive about Down Syndrome (PADS)

@NT0211 I don’t think it necessarily means downs (as in downs or nothing). The low set ears can be a marker for genetic conditions (my dd1 had this among other things), but can also be nothing.

Please ask the hospital questions. Ask them are they looking for downs or something else. Is there anything else that’s concerning them (was something else picked up at the top to toe check)? There are lots of other markers of genetic conditions, which is why I ask.

My son was diagnosed after he was born. He has a single palm crease and was "floppy" and had a sandal gap. He doesn't have the facial characteristics though so it's hard to tell he has DS. We had a blood test to confirm. It was a huge shock and a very dark time for me.

He's 11 now and a total joy. Please pm me if you want to chat. x

I can't imagine the anxiety you have right now OP, sending virtual hugs.

However I echo a previous poster, Rey and put the what IFS aside as best you can till the results. Your baby is happy and healthy, he really is. Concentrate on getting to know him, snuggling him and loving every part of him.

Should you get a diagnosis, you will be offered a wealth of support.

Thinking of you.

Ask for full microarray looks at all chromosome fir tiny deletions or duplications
There are many many syndromes
Many have wide range of symptoms
But are there other issues like feeding or floppiness?

...but this is your baby .
Try not to get ahead of things
He is who he is

By wide range I mean like down syndrome many syndromes you cannot predict how the future will be or what issues...just like any baby really. Take each day as it comes.

The Happy Mum Happy Baby podcast recently interviewed Harps Kaur who talked a lot about having a baby diagnosed with DS after birth, you might find it a useful listen.

Hi all

Thank you so much for taking the time to respond to my post. It’s my first time posting on here so wasn’t sure what to expect.

I think it’s the wait that’s driving us mad (probably more so my husband and his family). It’s just such a confusing time while trying to recover from a c section and look after our 2.5 year old daughter as well.

The paediatricians in hospital I felt were very deliberately vague when I said well what could this mean they just kept saying let’s wait and see for the bloods so I don’t think anyone was willing st that stage to tell me what this could or couldn’t mean. I guess we just have to be patient and like you say enjoy getting to know our new lovely new bundle.

It helps to know there are people here I can chat to if needed. Thank you so much x

My son was also diagnosed after birth (tests were low chance or Down's and scans were all fine so it was a bit of a shock). I knew the moment I saw him, but the wait for tests is frustrating. Until the tests are back there's no way of knowing for sure. It can feel really lonely but the midwives were wonderful.
Enjoy your baby and make sure you look after yourself.
My son is now 9 and he is the most wonderful little boy. Genuinely wouldn't change him for anything.

@NT0211 did you ever get your results? Hope all is well.