Hole in the heart diagnosed at 20 week scan

[SouthDownsSunshine]

Had our 20 week scan this afternoon, which was already consultant led due to high risk for Downs (1:120). There seems to be a hole in the heart (atrioventricular septum defect), it was quite obvious. Everything else was fine, no other soft markers for Downs.

We're being referred onto Evelina Children's hospital for a more detailed heart scan. We are also thinking of going for Harmony testing, so we have a clearer idea of whether our baby will have Downs. (We won't be having an amnio because of the miscarriage risk.)

I'd be grateful for any experience other have had, of children with hole in the heart, of the Evelina, anything really! We're a bit in shock...but feeling relief that all else seemed fine with baby.

[KittyandTeal]

I'm sorry you are going through such a stressful time.

Our dd2 had T18. They found a hole in her heart which apparently is a soft marker from chromosomal issues. However, they said to me that many babies have small holes at around 20 weeks and they generally close up themselves. For us it was one of 6 soft markers but on its own the doctors made it sound like it was fairly common (same as the cysts they found on her brain, on there own they wouldn't have been concerned)

Harmony tests are brilliant. We had one with our ds and the results came back within the week.

As an aside the mc risks for an amnio isn't actually as high as the nhs quoted 1:100. It doesn't take into account the babies that were ill and would have died anyway.

[SouthDownsSunshine]

Thanks for this kitty, and sorry to hear about your dd.

From yesterday's scan it sounds like there's a valve completely missing, and the consultant said the baby is likely to need surgery.

I'm keen to have the specialist scan and have more clarity.

[KittyandTeal]

Ah I see.

I would be surprised if they hadn't found more soft markers if your baby does have a chromosomal issue.

I know surgeons can do amazing things with very small babies these days. I must be horridly worrying for you.

Have you contacted arc? They are a brilliant charity who support women and families with any antenatal diagnosis.

[AGruffaloCrumble]

My DD2 had DiGeorge syndrome and HLHS heart defect. I had an amnio and specialist heart scans. The fetal cardiologist will give you a much, much better view of things regarding surgery and such. As Kitty says the harmony test is wonderful. I would say to be prepared that downs syndrome may not be the issue if there even is one. We weren't prepared to be told it was something else. Best of luck. I'm sorry you're going through this.

[SouthDownsSunshine]

Thanks both.

I spoke to Arc this morning, and although they couldn't shed too much light on things, it was so reassuring to know they're there.

gruffalo thanks for sharing. I just need to stay strong until our appointment at Evelina! It's a really good point about being prepared for there to be something else other than downs. The consultant was reasonably confident about ruling out Edwards or patau.

[sleepyMe12]

Hi south I've experienced the evelina children's hospital.
I was transferred there (from St Thomas's) after my 20 week scan discovered a problem with two of the valves in my Sons heart.

The hospital and staff are excellent all the equipment is very upto date.
The service and care I received was second to none.

Unfortunately for me it turnt out to be a marker for T18 which was confirmed by an amino (a few months before the harmony test was out).
I know that Kings college hospital now accept referrals for the harmony test if you are in London?

[KittyandTeal]

I can recommend kings, while I didn't have my harmony there (I had to pay privately as it was a subsequent pregnancy) we had all our specialist care, including our tfmr at kings and they were utterly amazing with us.

[TheDisillusionedAnarchist]

Have PMd you as some stuff I can't discuss publically. Very sorry to hear about this but glad no other soft markers.

[SouthDownsSunshine]

Thanks all, and thanks disillusioned for your really helpful (and lovely) PM. Xx

[SouthDownsSunshine]

Had further scan at Evelina yesterday, they were brilliant. Baby has complete AVSD, plus flattened valve and an aberrant right something! Poor thing. They seemed convinced that it'll have downs as well.

We're not going to tfmr, but slightly filled with dread at the challenges ahead for our family and this baby.

[lilydaisyrose]

Aw SDS, devastated to read this - lots and lots of love to you all, stay strong & my thoughts are with you,

lily (from Dec babies threads)

[sleepyMe12]

south I'm so sorry for your news.
Are they going to keep your care at the evelina/st Thomas's?

[SouthDownsSunshine]

Thanks lily and sleepy.

My care is going to be shared across 3 trusts/hospitals! Local, Brighton and Evelina.

[sleepyMe12]

I wish you and baby all the best south, you probably have so much information to process at the moment but after my diagnosis I spoke to ARC they helped a great deal.
Take care
Xx

[TheDisillusionedAnarchist]

So sorry to hear this. Hope all goes well for you and baby. Glad the hospital were good. Are you planning to confirm T21 or just wait and see.

[GirlWithAPearlNecklace]

South I have sent you a PM.