Amniocentesis

[metooannie]

Hello, I'm looking for anyone who can give me any advice on the amniocentesis test..

We have been told that our baby girl has a suspected tiny hole in her heart, although they have said it doesn't need intervention and isn't a cause for concern, they said that it can also mean a slightly higher chance that she has other abnormalities maybe chromosomes etc. everything else on my scans is normal, the rest of her heart is normal and all other organs/limbs etc.

I feel very lucky that she is healthy apart from this issue, but they have offered me the Amnio test. I turned it down there and then because at the time the thought of the test potentially causing a miscarriage was not worth the results but now I've been thinking about it I don't know what to do. I am 24 weeks and have two other children at home and my head is all over the place. My partner is very supportive and said he supports whatever I decide to do.

Has anyone been in a similar situation and what did you do? Has anyone on here had the test?

I have been told it is under 5% that they think she may have other abnormalities and they think that the potential (as it's so tiny) hole in her heart is an isolated incident.

I can't stop thinking about her and what is the best thing to do.

Any advice would be very appreciated, whether you have been through it or not I would love to hear.

Thank you

I decided not to have the test. We had echogenic bowel picked up at 20 week scan which can be nothing or can be a marker for chromosomal abnormality.

I decided not to have the test as I decided that whatever the result, we would not terminate. While peace of mind would have been so, so welcome, it didn't seem worth the risk that comes with the test.

It was really hard. DS was born perfectly healthy and I actually found that hard to accept for a while. I had planned for every worse case scenario.

It was so hard to make a decision and neither is wrong. In the end I asked myself which family I would choose for my existing child. One that would have the test and face whatever the result, or one that would not have the test and face the unknown. It somehow made it easier to make a decision that way.

I am sorry you are going through this. Whatever happens, and it sounds like the odds are overwhelmingly with you, I hope you are ok. I hope you have a healthy baby.

@SummerHouse thank you so so much! That really helps, I also turned it down currently as I decided whatever the outcome I wouldn't terminate so it makes me think is there any point in the extra risk. But also now they have planted the seed of there may be something wrong and it's a long time to wait with these feelings.

Im so glad your baby is happy and healthy, it's incredibly nerve racking!

Hi OP, I have been recently struggling with anxiety over the combined screening results, even though they came back lower risk. But I have just been completely anxious about it. That niggling worry can be hard.

What were your screening results like? Perhaps check back over them as that should also give an indication of whether there is a chromosomal issue.

Would NIPT be possible instead of the amnio?

I opted for amino as I wanted as much info as possible, I was told the risk of miscarriage is so low they don't even consider it a risk.

The procedure wasn't the nicest but was fairly straightforward

Have they said what conditions they are looking for? I have a heart condition and was offered specialist more detailed scans with my pregnancies to check for heart problems with my babies.
With my eldest I was told he was high risk for Down syndrome and in the end I did have the amnio as the risk they had given me was higher than the risk associated to the amnio and I just felt knowing one way or the other would have helped me prepare mentally. I wouldn’t have considered terminating. This was over 14 years ago and at the time it was the best way to diagnose downs. By the time I had my other children I believe they weren’t using amniocentesis as much as there were better methods of diagnosis.

I had an amino due to Downs risk - 1:24

The test was pretty straightforward, not painful. I had to walk around the car park a couple of times to persuade baby to shift position but otherwise, not bad. That was 2008.

• amnio

Thanks for the replies, so my screening results came back low risk, the only reason they have offered it is because of the tiny hole in the heart.

They said it can mean a higher chance of other chromosomal conditions they specifically mentioned downs. They did say they don't think the heart condition has anything to do with other conditions and it's an isolated incident but they can't rule Down syndrome out as they can't for everyone.

When I spoke to the midwife after she did say they offer the Amnio to everyone who has Fetal medicine appointments, the still think I am low risk and that the hole will close on its own. But because they have offered the test now it's made me feel like I should be worried.

I didn't ask about other tests maybe something less invasive but I will definitely speak to them on Monday at my next appointment

Definitely ask if they can do NIPT instead! It's just a blood test and very accurate for Downs, will tell you 99% whether baby has downs. If it comes back high risk then you could consider amnio. If the hospital won't offer it you can pay to have it privately.
Best of luck - it's definitely a stressful time but you'll get through it!

Also, if you wouldn't abort should the amnio come back positive for downs, then I wouldn't have the amnio. It's risking miscarriage and for what reason, if you would continue the pregnancy anyway?

Just my view x

Amniocentesis can be used to screen for genetic disorders such as Down syndrome, Edwards syndrome, and neural tube defects like spina bifida. It can also provide information about the baby’s sex.

https://killba.com/aminocentesis/