Just found out about possible genetic condition at 34 weeks pregnant... scared

[CobaltRose96]

Hi all. Not really an AIBU, posting here for traffic. I've also posted in the antenatal testing forum.

I'm currently 34 weeks pregnant with my first child. All scans and tests have been normal and the combined screening came back low risk.

My partner's father remarried after separating from his mum and has since had another child with his new wife. My partner's half sister is now 6 years old and was initially thought to be severely autistic. However, genetic testing has recently come back to reveal that she has a condition called chromosome 16p12.2 deletion. Further genetic testing on her parents revealed that my partner's father also has it, although he is much less severely affected. He has some mild autistic traits but they only really become apparent if you know him. Otherwise he appears 'normal'. His daughter however is more affected (developmental delays, physical abnormalities though none that are severe or life threatening, learning difficulties).

Neither my partner nor his three brothers appear to have inherited it (although they haven't been tested) and I myself have no family history of genetic conditions. This condition is apparently very rare but does run in families. From the research I've done online, if someone has the deletion there is a 50% chance that any child they have will also have it.

Again, all of our scans and tests have shown that our baby girl appears to be perfectly healthy, and from what I've read and what my partner's stepmother has told us, some of the features of of this condition (big head, small jaw, cardiac problems) are often apparent on scans.

Of course we will love and treasure our daughter regardless (I've previously had a traumatic miscarriage), but it is scary to suddenly find out that there is a family history of a genetic condition.

I don't know where to go from here. I'm already 34 weeks pregnant so she'll be here before long. Is it worth mentioning this to my midwife at my next appointment? We're seeing her for my routine appointment on Thursday anyway.

Sorry if I sound like I'm rambling, we only just recently found this out and I'm still reeling somewhat. Any advice would be appreciated!

Thank you

It's worth speaking to your midwife about to put your mind at rest. Your oh should get the testing done to see if he's a carrier as well.

Thank you @10PollyPockets. It's more a matter of preparing ourselves if she does have it OR putting our minds at rest. If she does have it there's nothing we can do about it and we will love her regardless, but forewarned is forearmed! Then again, some people with this condition don't appear to have any issues, or they're very mild (as is the case with DP's dad). It's a spectrum.

Ask dp dad to put you in touch with their genetic counsellor, they should be happy to have a conversation with you about this

Get your partner tested by a geneticist, if he doesn’t have it then your baby won’t, or at least the chances of her having it will be the same as the rest of the population, if he has it then, as you know, she has a 50% chance.

Posted too soon! Either way her chances seem low, and at least you will know if that is what you want. My child has a genetic disorder, to google the condition is scary and worrying, the reality of it, in our case, is that our child is so much fun and my life is better with them in it.

Thank you all!

I would definitely mention this to your midwife. Also try to get your DP in to see clinical genetics so he can be tested himself.

As you saying forewarned is forearmed and knowing whether your DP has inherited the deletion and therefore whether your children could also inherit it.

If you live locally to his family, the clinical genetics service they are seeing may also be able to see you and test your DP for the deletion. As you are currently pregnant they may be able to prioritise you so I'd make sure they are aware.

I can only imagine how much of a shock this must have been for you, to you all.

Hi op.my son has 16p13.11microdeletion syndrome ,it can either be inherited or not ,if a parent has it they have a 50% chance of passing it on to any child ,how.it affects people can vary massivly there are Facebook's groups out can join 16p vips,and 16p "we are family" also Unique is a charity that helps people with rare chromosome disorders , if your dh does not have it than it is highly unlikely our child will be affected .