Amniocentesis at 20 weeks

[Ivfmommy2b]

Hi All. This is my first post, and my first pregnancy after undergoing ivf twice. I am currently 20 weeks pregnant with a girl. My 20 week scan detected an issue with the babies heart. Today I had a detailed scan with a Fetal medicine doctor & a cardiologist. They have diagnosed a right aortic arch, which hopefully doesn’t sound as bad as I thought. However they have said their is an increased risk of having a baby with a chromosome abnormality. I am deciding whether to have an amino or not, I have been a nervous wreck for the entire pregnancy & can’t stand the thought of worrying for the next 20 weeks. I would rather know what I am dealing with. I would be really grateful for any experiences of a similar situation & what you did or if your baby had this heart issue and whether they had any chromosome issues. Thank you. Xx

I had an amnio at 22weeks for dd1 as she had severe heart defects (and iugr) picked up at the 20week scan. The cardiologist wanted to rule out chromosome defects and similar to you we wanted to know so we could be prepared. We had had a clear harmony test earlier in the pregnancy so we're fairly certain if anything was found that it would be a less common condition.

The amnio itself wasn't pleasant but ok. The build up was worse than the reality if you know what I mean. We had another very detailed scan and then the amnio was carried out. It was done slowly and carefully, the doctor was watching the screen to ensure the needle went nowhere near the baby. It was more uncomfortable than painful and I had some light cramping over the next 24hours.

We got the first set of results about 3 working days later and the full karotype 2 weeks later. Both showed no chromosome defects. Be prepared though that the doctors maybe want to test again postnatally as even the full testing can't rule everything out. Dd had a blood test shortly after birth (also clear) and one doctor wanted to do further screening on rarer conditions but she had a real bee in her bonnet about dd having a genetic condition that I wasn't convinced about. dd passed away before further testing could be carried out but I will emphasize that her heart defect was very very severe (plus she was tiny) and most babies have better outcomes.

I will say I think I remember that most heart defects aren't associated with genetic conditions and are just one of those things. Good luck whatever you decide about the amnio

Right aortic arch wasn't one of dds issues btw. She had several other defects

Thank you for your message, I am sorry to hear that your dd passed away. Did they tell you that this was a possibility? I think I have decided to have the amino. Xx

We knew it was a possibility. Her defects meant it was unclear antenatally how severe her condition would be. It could have gone either way but unfortunately postnatally we were in a worse case situation. Yours sounds much more straightforward.

If you are planning on continuing the pregnancy either way then one option is to wait later in the pregnancy for the amnio as then the risk switches from miscarriage to premature birth. However if the results of amnio might mean you terminate it's best to have it now. Do you have a fetal medicine midwife to talk to? Mine was really good

Hi
I have sent you a pm as I have had the exact same thing happen.

Littlebelina I am so sorry for your loss. I always think that people are so generous on this site, being willing to share their own experience , however painful, to help others. Thank you for your wisdom I also found fetal medicine to be excellent and supportive

Thanks peacefully, I remember lurking on lots of forums during dd1s pregnancy reading advice so like to repay the favour a bit.

A few potential useful places to get advice. Baby centre has a dedicated heart babies and children board. Tiny tickers and heartline are good charities for families of children with heart defects and have Facebook groups.