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

[CobaltRose96]

Hi all.

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 16p11.2 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. His daughter however is severely affected (severe and numerous developmental delays).

I know absolutely nothing about this condition and what the chances may be of our child inheriting it. 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.

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 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?

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

I think anything like that is worth mentioning although you might find your midwife may know nothing about the condition.
I know you must be worried but try not to (easier said than done) I'm sure your little girl will be fine.
It may be so bad in in your husbands little sister because of the genetic mix or his dad and step mum, sometimes it can make a condition worse, who knows but if you really are that worried then ask to speak to a consultant and see what they say.
Good luck x

I found out that my boy had a chromosome abnormality from early scans (not the same as your DH though). We were offered testing and genetic counselling on the NHS- which was amazing. He was born fine and is now a strapping teenager. The rest of the family were offered testing and counselling. My DM has it too (as do I). My DD will be tested soon as there is a reproductive risk with our dodgy chromosomes.

Talk to your midwife who should refer you to a geneticist an/or obstetrician.

I wish you all the best x

If the father of your baby does not have the genetic condition, he can't pass it on. It's not biologically possible. At this point, it's unknown whether or not he carries it.

Random genetic mutations are always possible (that's how evolution happens).

Thank you all. I have a routine midwife appointment on Thursday anyway so will mention it to her then.

Part of me sees little point in testing, as if she does indeed have it there is nothing we can do about it, and we will love her regardless! But another part of me wants the testing to give myself peace of mind OR time to prepare (whichever it may be). My partner's sister is a lovely little girl but her behaviour is indeed very challenging at times. She is only just learning to talk now at six years old, and as a result of her difficulties with communication she can become frustrated and very aggressive at times. It isn't her fault at all and she's a sweet, loving child at other times, but I can see that it is incredibly difficult for her parents to cope with at times (especially her dad who has difficulties of his own).

Whatever the outcome, our little girl is very much wanted and adored anyway.

I would get your partner tested as if he doesn't have it there is no chance of him passing it on to this or any future baby.
Testing this baby just means you'll gave the same anxiety for the next baby.