Multiple anomalies at 22 weeks and waiting on genetic results

[Frankie385]

I’m currently 22+2 weeks pregnant. We had our 20 week scan at 21 weeks and were referred to fetal med due to concerns about the heart. We were seen by them and identified a small baby (10th percentile) a missing right kidney, a single umbillical artery, enlarged area of the brain (csp) and what they thought was a serious heart defect. As a result of this they suspect something genetic. We were then seen by cardiology and the heart problem isn’t as bad as they thought but the baby does have a large VSD.

we had an amnio and they have approved genome sequencing.

im concerned that none of this information will be back before we are 24 weeks pregnant and after that any decision to continue or not continue the pregnancy will be out of our hands. My parter is very supportive but is very concerned about the impact that having a disabled child could have on our older children. I’m also concerned about this, and I worry about my ability to parent a disabled child. I’m sure I would manage but the thought terrifies me. I try my best as a parent but I do find my two exhausting at times - so I worry about another child having significant needs that i cannot meet.

has anyone experienced anything like this, in terms of multiple anomalies that don’t fit standard genetic conditions? If so how did you process it or manage all the feelings.

i very much love this baby and I feel in an impossible situation. I’m also an older mum (perhaps why I’m in this situation) and worry about what would happen to my baby when I’m older. I wouldn’t want my other children to feel any responsibility towards them as they didn’t choose this.

I’m not sure but I think you can access TFMR after 24 weeks in some circumstances. I’m so sorry for what you are going through. I’ve had a TFMR but it was early second trimester so I can’t offer any practical advice but I know how hard it is from an emotional perspective 🩷

You can access an abortion at any gestation for abnormalities like these, regardless of whether a specific ‘condition‘ is diagnosed. So this isn’t something you need to worry about on top of everything else. Wishing you calmness and peace going forwards.

I am so sorry you are in this position @Frankie385💐
I don't understand why you wouldn't be able to have an abortion after 24 weeks though . Both my sister in law and my sister had late abortions for this .
They were 44 and 40 . Unfortunately it does come with any age of course but the older the eggs the more chance of abnormalities as we know.
What would seal the abortion for me would the quality of life the child l was carrying would have . If the child would suffer at all and/or be born unable to survive then l would go ahead with the abortion. I so hope the genetic tests come back clear. My best wishes for you , your family and baby .

I agree with the PPs, you will be able to have a TFMR if that’s what you decide is right for you.

Thanks everyone that’s what I thought but the consultant said she thinks we have something very rare like a micro deletion and they won’t be able to tell us the impact. So for that reason they can’t demonstrate grounds for TFMR but we may still be faced with a very unwell/disabled child that they couldn’t predict. I know this is the case with all pregnancies but I think the signs are pointing us to this outcome.

I’m so sorry this is happening. This happened to my daughter in April this year. Everything appeared normal leading up to the 20 week scan and then our world fell apart with multiple anomalies and the consultant at fetal medicine prepared us for the worst and told my daughter she has 3 other children to consider. Sadly our precious baby boy passed in utero at 23 weeks 6 days and he was born sleeping.
I don’t think the 24 weeks is a deadline for babies with defects, it’s only if tfmr is requested after 24 weeks for healthy babies. Take care, it’s such a cruel time.