12 week old - could she have downs and it have been missed at birth?

[Pittcuecothecookbook]

My baby has a large pad of fat on the back of her neck which makes her back look rounded. I know this is a feature of downs, but she doesn't seem to have any other indicators (2 creases in hands, facial features and ears seem normal).

Midwife did heel prick test for various things, presumably downs is picked up then?

NT was normal when measured at 12 week and downs score was low risk (can't remember figure exactly, but 1 in 1000s)

Does anyone know if a baby has downs, it would get missed in the first 3 months? Can a baby have downs, and have 2 creases in their hands?

Thanks guys

It's unlikely for it to be missed if born in the UK and had usual routine checks, but not unheard of.

Down syndrome is not tested for on the 5 day heel prick test.

You probably would have additional concerns about your daughter if she did have Down syndrome, but if you're worried about it definitely see your GP

I think it's likely her heart check after birth would have shown up a problem if she had Downs Syndrome, OP.

Your doctor's the best person to help you here, though.

My dd2 has Down's, all dc with Down's are a little different and don't necessarily have all the markers. A paediatrician would be qualified to say if your baby has these markers, the midwife when my dd was born was not allowed to say, but contacted the paediatrician, it was a hospital birth. It is a very specific blood test to test for trisomy 21, a third chromosome 21. Iirc my dd had epicanthic folds on her eyelids, 2 creases on one palm but only 1 on the other, sandal toes, but it was not very noticeable. Only a proper bloodtest would verify this. I would really recommend talking to the Down's Syndrome Association for advice, they are brilliant and will talk you through the information and where to get help. I think we only questioned how dd2 looked as she looked so different from her sister at birth.