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I have a daughter with Down's (we didn't know during pregnancy - actually, we didn't find out until she was almost 2!!), and my wife got NIPT tests on subsequen

I have a daughter with Down's (we didn't know during pregnancy - actually, we didn't find out until she was almost 2!!), and my wife got NIPT tests on subsequent pregnancies. I don't know what we'd have done had either of them been positive, but at the very least we wanted to know beforehand. Like you said, there's nothing to be ashamed of here.

mmastrac 6y ago
> actually, we didn't find out until she was almost 2 I'm curious about this. I didn't realize that the condition could go undiagnosed long after birth!
- GordonS 6y ago
  It is very unusual. Most parents will find out during pregnancy, immediately after birth, or within a few weeks of birth. In our case, somehow none of the health professionals noticed or said anything (yep, we seriously found out later that at least 3 of them suspected and said nothing - because it "wasn't within their remit"). Typical Down's facial features are not quite as prominent in our daughter, and developmentally, for a long time she tended to match her peers, or only lag behind a little. But coming on for 2 years, she still wasn't walking and her speech was lagging being, and we went to see a paediatrician - he recognised it immediately, and told us without even waiting on karyotyping. It was something of a shock :)
kwhitefoot 6y ago
That's astonishing. I think every mother over a certain age is offered a test here in Norway as a matter of course along with genetic counselling to make sure that she is able to make an informed decision once the result is known. This was the case for my children decades ago in Norway.
- GordonS 6y ago
  Mothers in the UK get rough statistics based on their age (e.g. you're told you have a 1 in 8000 chance of having a kid with Down's), and have the option of an amnio, which is invasive and carries a risk of miscarriage, so many will go off the stats alone. NIPT has only been around for a few years, whereas amnio has been available for decades AFAIK, so I guess it's amnio that's been commonly been available in Norway too?
  - kwhitefoot 6y ago
    Yes it was amnio.

mmastrac 6y ago

> actually, we didn't find out until she was almost 2 I'm curious about this. I didn't realize that the condition could go undiagnosed long after birth!

GordonS 6y ago
It is very unusual. Most parents will find out during pregnancy, immediately after birth, or within a few weeks of birth. In our case, somehow none of the health professionals noticed or said anything (yep, we seriously found out later that at least 3 of them suspected and said nothing - because it "wasn't within their remit"). Typical Down's facial features are not quite as prominent in our daughter, and developmentally, for a long time she tended to match her peers, or only lag behind a little. But coming on for 2 years, she still wasn't walking and her speech was lagging being, and we went to see a paediatrician - he recognised it immediately, and told us without even waiting on karyotyping. It was something of a shock :)

kwhitefoot 6y ago

That's astonishing. I think every mother over a certain age is offered a test here in Norway as a matter of course along with genetic counselling to make sure that she is able to make an informed decision once the result is known. This was the case for my children decades ago in Norway.

GordonS 6y ago
Mothers in the UK get rough statistics based on their age (e.g. you're told you have a 1 in 8000 chance of having a kid with Down's), and have the option of an amnio, which is invasive and carries a risk of miscarriage, so many will go off the stats alone. NIPT has only been around for a few years, whereas amnio has been available for decades AFAIK, so I guess it's amnio that's been commonly been available in Norway too?
- kwhitefoot 6y ago
  Yes it was amnio.