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

[CobaltRose96]

Hi all. 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 microdeletion. 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. My partner is dyslexic but otherwise doesn't have any problems or learning difficulties.

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, like they were with her daughter.

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

Anyone?

DS2 has a rare microdeletion that wasn’t picked up till he was older. It sounds similar to the one you describe in that the range of symptoms is very wide and affects each child differently.

If I had read studies or found out about the micro deletion when I was pregnant or he was a baby then it would have been horribly stressful - exactly what you’re describing.

It’s definitely worth discussing with the midwife and seeing if there is any possibility of a referral to a geneticist. They would be able to talk you through possibilities and likelihood.

DS2’s micro deletion is a mutation so no one in the family has it apart from him but he has a 50% chance of passing it on.

It’s very easy to say you can’t worry about something you have no control over - I know how hard it is not to worry. But all your tests have been fine and none of the scans have picked up any physical signs. That is very positive.

First and foremost your partner needs to see a genetic nurse and be tested for the condition. If he has it then you can go down the route of having your dc tested,but if he doesn’t then it’s highly unlikely your DC will have it either. So your first port of call is to see whether there is in fact an inheritance link through your partner and you can then face the rest afterwards. Iyswim.

FWIW I have recently found out that there is a 50% chance I have passed a genetic heart condition to my DS and he’s sixteen. And even then the feelings of “if I’d known then what I know now” have arisen, and I knew quite a lot about genetics already due to a condition my eXH had but which wasn’t passed to our DS but was to his child from his subsequent relationship.

Ultimately time will give you the answers you need but in the meantime you need to find out the likelihood’s first because doing that is something which can be looked into now whereas you will need to wait for your baby to be born etc and even then may have to wait to see if any of the traits materialise before you know what kind of intervention could be needed. Whereas a simple yes/no wrt your partner could eliminate all of that as well as all of the worries involved. Iyswim.

Good luck.

Thank you both. It's a worry but mainly due to the unknown, I think.

I replied to your other thread ,my son has 16p13.11 m micro deletion syndrome it can either be inherited or not, if your dh has it he has a 50% chance of passing it on to any child, how it affects a person varies widely if he doesn't have it ,it would be very unlikely that your child will.be affected , there are a few groups on facebook,16 VIP s and 16p "we are family" also I Unique is the charity that helps families affected by rare chromosome disorders

My daughter has 16p11.2 microdeletion. We didn't know until she was around 6-7yrs old. After her testing DH and I were tested but both negative, so hers is "de novo" ie new in her. She has a 50% risk to pass this on to any children she has. There is a fair bit of information out there about this particular deletion - have a look at the Simons VIP site and facebook pages and Unique website too. Not all children will show the same symptoms, for example epilepsy affects some but our daughter does not have this.
She's a happy child, attends a specialist school as she has autism and learning difficulties, but has a future ahead of her. Happy to talk more, inbox me if you want to.