1 in 44 Down's Syndrome Risk

NoNoDrama

So just had letter through a few weeks after the scan. As she is over 40 we expected to be in the high category.

But what about other chromosome disorders that can happen? Doesn't the test cover these or are they just not referenced because there was little or no risk?

No. 13 (Patau's syndrome) or No. 18 (Edward's syndrome) for example? Spina Bifida?

We wouldn't risk Amniocentesis for Downs, but for the more severe disorders we would.

jinty271

Having a healthy child is a lottery whatever your age. If you have been identified as high risk you will be offered additional testing and if required counselling to help you with any decisions you may need to make.

No one here can advise you about every single potential condition (genetic or otherwise) that any pregnancy can result in - even some of the more life-limiting conditions are not always evident until after birth as the chromosomes appear normal and a FSH test is required for a comprehensive diagnosis.

I hope everything works out well for you and your family.

Pollycat

NoNoDrama wrote: »

So just had letter through a few weeks after the scan. As she is over 40 we expected to be in the high category.

But what about other chromosome disorders that can happen? Doesn't the test cover these or are they just not referenced because there was little or no risk?

No. 13 (Patau's syndrome) or No. 18 (Edward's syndrome) for example? Spina Bifida?

We wouldn't risk Amniocentesis for Downs, but for the more severe disorders we would.

Shouldn't you be asking your doctor about this?

ognum

I am aware of a blood test that can be taken as early as I think 11 weeks pregnant that shows some other genetic abnormalities as well as the sex of the child.

This test is not yet available on the NHS but probably will be within the next few years but can be done in many private clinics, google on near you.

My daughter has had this test in both her pregnancies.

bouicca21

There are tests other than amniocentesis that will pick up chromosomal abnormalities in pregnancies by older mothers. I had one nearly 30 years ago! Talk to the midwives, demand to see the doctor to discuss your options.

pinkshoes

43 in 44 chance of not having downs...

Why not just pay for a harmony test to get a definite answer? It is non invasive but not available on NHS.

Toooldforthisagain

I had the harmony test, on the nhs, was totally worth it.
My LO is three now and a total pickle:)

divadee

Go for a harmony test. We did and it was the most reassuring test and worth the £400.

Tabbytabitha

NoNoDrama wrote: »

So just had letter through a few weeks after the scan. As she is over 40 we expected to be in the high category.

But what about other chromosome disorders that can happen? Doesn't the test cover these or are they just not referenced because there was little or no risk?

No. 13 (Patau's syndrome) or No. 18 (Edward's syndrome) for example? Spina Bifida?

We wouldn't risk Amniocentesis for Downs, but for the more severe disorders we would.

Downs Syndrome can be pretty severe.

74jax

NoNoDrama - how I've missed you.

[Deleted User]

Try ARC-uk.org for advice on the results. There is a helpline you can call.

I was given one score for downs and another (much lower) for edwards and pataus. I would query why the second score isn't shown. I would try the midwife first (even though the scanning is often another department), but they should respond quickly and tell you who to call.

Best wishes, hope it all turns out well for you.