Anybody decline NT and bloods and have a child with chromosome issues?

[Porcupinetree]

Interested to know if anybody has decline Downs/combined testing and then discovered that their baby has chromosome irregularities?

I've always turned down testing but have always been told by the sonographers that they are still required to notify of any anomalies.

At what stage did you discover any problems?

[hazeyjane]

We had testing as we have close family history of Edwards Syndrome.

Everything came back ok, but my ds is disabled and thought to have a genetic disorder, he is part of a study related to undiagnosed genetic disorders. Because of the ever changing and rapidly developing nature of genetic testing, it is very difficult to test for all known genetic conditions, and then there are the new conditions being discovered!

None of ds's issues were identified on a scan, but his difficulties were present at birth (he went straight to nicu as he was grunting to try and breathe, had jaundice, no suckle reflex and a heart murmur), but were put down to separate issues (respiratory difficulties, reflux, low muscle tone), until he was 10 months old, when we saw a neurologist and a geneticist.

Disability is not always a predictable thing, and I do think the possibility of having a disabled child should be something that everyone considers when they are pregnant.

[lougle]

We declined triple test because we would decline amnio and wouldn't abort for chromosomal abnormalities.

DD1 has SN and is thought to have a genetic origin of those SN. In fact the midwife thought she looked like she had DS (I found out from a doctor). She was nearly 3 before anyone took new seriously about her issues and she goes to special school.

I kind of regret declining the triple test now because I wonder if it would have flagged anything...but then she was in the DDD genome mapping study and they didn't find her problem. She should be entering the new study once I get my act together and register her!

[SouthDownsSunshine]

Currently pregnant. I had only the downs test, came back high risk (1:120) and refused amnio and didn't have harmony.

Last week's 20 week scan showed a heart problem. Further scan by specialist showed it was major, and there is a strong correlation with downs.

We are still refusing the amnio, so are having to pay privately for NIPT. If our baby has downs (or Edwards or patau) then we still wouldn't terminate. But we feel it's now important to know so we have as much information as possible for pregnancy and birth.

[Owllady]

Good luck southdowns :)

We didn't have testing as eighteen years ago I was considered very low risk and scans were fine. My dd had an episode at birth (swelling of the brain, low blood sugar) and spent time in scbu. By eighteen months old she was dx with a global development delay. She has a collection of dx but no chromosome or genetic evidence and its believed to be caused by a brain injury at birth.

If you are pregnant, I'd just enjoy it. Sometimes things happen but the vast majority of the time, everything is ok! :)

[LBNM19]

I had the testing done and had my first child when I was 21. He is 4 and a half now and severely disabled he has a genetic condition that cannot be picked up on scan or by routine blood tests. We didn't no anything was even wrong with him untill he was 5 months.

While it's a possibility it's obviously much more likely your child will be healthy. X

[scoobyloobyloo]

We declined as we had twins and results are not conclusive for them. We found out between 12-15 weeks that our twin boy had an insurmountable genetic problem via several scans.

It was only due to the nature of his problem that this was able to be picked up by a scan.

Knowing his issue was not about whether we would have a termination or not - it was about how best to manage it in terms of his pain, my health and his twins health. I imagine it would be the same in a singleton pregnancy.

I also have a close friend who declined testing - she had far too much amniotic fluid, was very poorly and after an early c section was found that her baby boy had T18, he passed away within 4 hours - she had never had time to prepare for it and the impact was huge.

I find it slightly naive to look at it as just an issue of 'well we wouldn't have an amnio or a termination'. Firstly, you don't know this until you have a diagnosis - would you carry a seriously ill child to birth only to pass away within minutes? Even if the answer is yes, many genetic disorders can carry a risk to the mother and being forearmed with knowledge is vital. Also if baby is undiagnosed and requires specialist treatment at birth, not knowing about their condition could cause real issues for baby and mum.

Most anomalies would show on a scan, but often not until 20 weeks, by which time a termination becomes very traumatic.

This is all highly, highly unlikely. However, I honestly think thy midwives do not tell you the full story as to why this testing is so very vital., it is most definitely not a simple question of 'would you have an amnio or termination?' It is far more complex than that.

I don't want to sound like the harbinger of doom but I do feel very strongly that we should be better informed with regards to the importance of these tests.

[hopinghopefullyagain]

Our dd had T13. 12 week bloods were low risk but several markers were picked up at the 20 week scan and we later had an amnio to confirm. For us, it was absolutely not about ending the pregnancy but the knowledge gave us the power to do everything we could to give her the best possible chance. As it was, she was stillborn and we were fully prepared for this because we had time to prepare. For us, it was the difference between coping and not. But - if I learned anything, it was that everyone is different and must do what is right for them.