Experiences of and testing for chromosomal defects

[BabyHJ]

Hi, I’m looking for some advice based on others personal experience. I’m 20 weeks pregnant and we found out recently that the baby has a superior left vena cava (slvc) which is apparently a normal variant and nothing to worry about. On top of that, we found that she (it’s going to be a girl!) has a single umbilical artery instead of two. Individually they seem to be nothing to worry about, however with her having both, there’s a slight increased risk of chromosomal defects. Other than this, she seems to be perfectly healthy and growing well. I had the additional tests done at 12 weeks for various syndromes and it came back as low risk, however I understand that low risk is classed as 1 in 150 chance. I was offered amniocentesis, but the chances of miscarriage seem quite high to me (1 in 100)
so I’m reluctant to do this. I was wondering firstly, if anyone has had any similar experiences and if so, what was the outcome at birth? Secondly, has anyone had amniocentesis before and what are your thoughts on the rate of miscarriage? We’re you worried too? I’m feeling really stressed about the whole situation, so it would be good to hear other experiences if possible! Thanks in advance

I was offered amnio. For me, that risk is incredibly high. It differs according to NHS trust and can be nearer 1 in 200. But that's still russian roulette to me. The risk is so often on here referred to as "tiny" but I think unless you would want to terminate it's just not worth it. I was sure I wouldn't terminate whatever the outcome so I declined. We were offered it because there was a marker for a chromosomal disorder (echogenic bowel). We had a perfectly healthy baby and it gives me the chills to think I was close to taking a risk with an amnio that would have found nothing. The 20 weeks of not knowing were hard. But I think they made me stronger.

Have you already had the blood tests where they test for foetal DNA in your blood. I think they are called harmony or something like that? It is a non invasive way of doing the same test as an amino
Will cover the most common chromosomal abnormalities but wouldn't pick up anything really weird.

I would have a nipt test or harmony test done

OP - if you feel you need the certainty that an invasive test will provide, and if you can afford to, you might want to consider having the procedure carried out at the Fetal Medicine Centre (private but not for profit). They have deep expertise, a well equipped clinic, and offer a good standard of patient care. I had CVS there. Given the stakes, this felt preferable to taking pot luck with who is on duty in a local hospital, the state of their scanning equipment etc. Prof Nicolaides undertook my procedure and I did take comfort from being in the safest possible hands.

Thank you all for you advice. I’m not sure if I’ve had the nipt or harmony test done, I will check with the midwife and will look at fetal medicine centre, but still reluctant to have the amniocentesis, so not sure about that one.

Hi! With my son we discovered at 27 weeks he had issues with his brain that weren't present earlier. We were offered an amino, but like yourself, we were too anxious about the risk of misscarriage.
I have absolutely no medical experience, so apologies if I get this wrong, but I just wondered if a fetal MRI could answer your questions?
We chose this option when I was pregnant with my son and they got a really good view of his brain and what had happened to cause the problems. I guess it may not be possible with other body parts, but it's safe.
Wishing you lots of luck xx

I had amnio 3 Times when I was pregnant with DD. The first 2 were awful, on the same day with local. The monitor was so crap that it looked like the end of a video tape and no discernable image. The registrar blamed me, saying the placenta was in the wrong place. That was Friday. In a local hospital.
The Monday had the third at St Mary's in Manchester with no local and I could barely feel it, their monitor showed clearly the blood vessels in the heart, in red and blue. I had an irritable uterus the following week but all was OK. The lovely midwife at St Mary's told us that she would definitely have it herself to be sure, citing a 26 year old who'd had a baby with Downs.

Fwiw, this was in 1997, we had no chance of childcare for a baby with Downs where we lived and we'd decided before I was pregnant not to continue if it was bad news.

Not an easy decision.