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
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Antenatal tests
Just found out about possible genetic condition at 34 weeks... scared
7 replies
CobaltRose96 · 27/01/2019 19:02
OP posts:
Shineyshoes10 ·
27/01/2019 19:18
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Shineyshoes10 ·
27/01/2019 19:33
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