Pregnancy after genetic/chromosomal loss question: CVS?

[LionsandBears]

Hi Tashy,

We have just lost our son 41+6 born on 23 May due to genetic disease ARPKD (autopsy to confirm in about 6 weeks). I am thinking along your lines now. Do I go through with the genetics process or do I just aim to fall pregnant again and hope that our new bub will be a healthy one this time? Very hard decision and to go through all those tests and CVS etc would be a lot of added stress. I'd rather have a risk-free pregnancy (which of course is impossible), but given my age (nearly 39) I would prefer not to wait for genetics etc. I'm not sure why they can't test for ARPKD via CVS when they can test embryos for it. All a bit confusing.

I think I'm like you, if either chromosomal or genetic disorder was detected early on in pregnancy, we would not continue the pregnancy either.

Hi kujbub - sorry I didnt respond earlier. We're going through another round of babyloss hell and I'm not on here much.

I am so sorry for the loss of your son. I understand how devastating that is. Did you know in advance that you baby was affected? You'll still be reeling that this really happened. I hope you have lots of love and support during this time. I found SIDS and Kids very helpful as well as getting grief counselling as a couple.

The reason we could not have a CVS to test for ARPKD in subsequent pregnancies was only because our results were weird. They only found one known mutation in our son, that was not matched back to us. It could have meant it was a spontaneous thing or that it was hidden where they couldnt find it or something else. I do recommend going through the genetic testing. I was frustrated at how long it took, but it did end up being about the right amount of time for our grief and my physical healing (6months). First there's the 6 week wait for the post mortem results, then setting up meetings with geneticists, then getting blood tests and the results being sent OS - in our case a lab in Wales. The first round of testing took about 3 months after the local faffing around, but they needed to redo it due to our weird results. So it took 6 months.

I have online friends who did get a good match - their child's mutations were found and then matched back to them (1 mutation per parent). They were able to have a CVS test for their 2nd child, which also had ARPKD. They terminated at 11-12 weeks and their 3rd child has been confirmed as not being affected. If we had been given that option, we would have preferred it as they are now able to relax more during this pregnancy (though you'll never completely relax again). I know another woman for whom the mutations were not found at all. They are currently 29wks with their subsequent pregnancy and all is looking well so far.

btw - the subsequent pregnancy anxiety whilst still grieving your son is hell, but you can get through it. Sadly, in our case, our second child has developed a completely different condition that we did not even consider. It's not something that can be found on a cvs, so that wasnt relevant to us. Just completely rotten luck that has left us shattered again. Given we still have the risk of ARPKD reoccurring but not having the cvs test available, I dont know what we'll do in future.

ETA - just FYI for others who may ever go through something similar. Our NT scan result came back as 1:6000 for T21, so we chose not to have a CVS. Due to the later issues that came out at the 20wk scan, we had an amnio at 21wks. The FISH results confirmed the baby did not have T21, 13 or 18. We currently dont know why our baby has developed his condition (severe ventriculomegaly/hydrocephalus). Most likely just awful, crap luck. I am currently 37, so that NT result was very good for my age.