Non-invasive prenatal testing to be offered on the NHS

[TheMshipIsBack]

On the BBC website. I had this done privately and found it very reassuring. It's not clear from this article if all women will be offered NIPT or only those with high risk of trisomies from the nuchal scan.

thing is wips when i was pregnant with my two i was concerned about downs syndrome as that was the only chromosome disorder i had heard of, i had no tests as i would have continued with my pregnancies anyway , and then ds2 was diagnosed with a microdeletion on his 16th chromosome two yrs ago and its thought to be the cause of his disabillities i had never heard of microdeletions or duplications or translocations untill ds2 was diagnosed and they are not that uncommon according to unique so why do we never hear of them?

I don't know! Why is the focus always on Down's? Because it's been an identified condition for a long time? My cousin has a child with a very, very rare syndrome - took ages to even name it. You just don't know what might happen.

Why is the focus on Downs?
Probably because it is by far the most common, both in occurrence during pregnancy and the likelihood of meeting someone with Downs.
And frankly, it is the only trisomy where you have a real 'choice'
With Edwards and Patau, the choice is to lose the baby during pregnancy or shortly after birth. It isn't about whether you feel able to cope for the rest of your life with a child who will have some degree of disability.

Ask a family with a known inherited condition if they worry, and they'll tell you Downs is possibly lower on their list than things they are most familiar with. It is about awareness, to a degree, and the more tests become available, other conditions will be worried about as much.

My sister has MS. My uncle died from it after a long degeneration. It was one of the reasons we decided against children. (We were neither of us too broody until a close friend got pregnant and the smell of her being pregnant almost changed our minds!).

We sould have been more likely to try for a family if we had the certanty that we could have tested. However, that would come with the awful certaity that if tests showed our child would get MS we would have to terminate.... What a lousy choice to have to make.

Otherwise why do the tests?

professor
Not necessarily.
If a test could identify something inheritable at a genetic level, you could have IVF with Pre-Implantation Genetic Diagnosis, which would take a single cell biopsy of embryos when they were a few days after fertilisation, and look for the faulty gene

Only those without it would be transferred back to you, so any resulting pregnancy would be free from the faulty gene. Of course that is no guarantee it would be a pregnancy that was free from a whole raft of unconnected things, but it would alleviate one worry.
This technique can already be used for Downs and other chromosomal issues...

I was one of frost ever to have Harmony via a trial after I got a 1:10 risk factor from my nuchal scan. Harmony said baby was fine and it was a huge relief not to have to have a risky invasive procedure. The professor who developed Harmony and ran my trial said its basically 100% accurate for Downs but they can't say that yet.

As a doting mother of 3 with DS I can assure all there are many worse syndromes. I personally would rather the vast amount of money should be spent on researching Motor Neurone Disease, Multiple Sclerosis which robs people and their families of lives. The majority of people with DS have fulfilling lives, ask my three!