I'm just starting to feel the pressure a bit now as if I pass on this problem it is entirely my doing and nothing to do with my OH, and its a 50:50 chance.

I could have a baby with normal vision or I could have a child with Aniridia - they may be lucky enough to have a normal life like me except be unable to drive and be at high risk of glaucoma and sudden onst keratopathy leading to blindness (something I worry about for myself), or they may be born incredibly visually impaired.

I'm just not really sure how to deal with that! Its all a bit much on top of other worries about the pregnancy!

I went to a genetic counsellor - my niece has a developmental delay (Trisomy 18 or 23 - I forget now!) that had serious implications during her birth (he heart stopped beating due to faulty valves and she needed immediate surgery - less than one hour after being born).

They sat me down, too my history and my husband's history, taught us how genetic disorders are passed along (basically when chromosomes translocate from one part to another, or are missing), and then tested my blood to see if I had any translocations - the propensity to translocate (and therefore become at risk for missing a chromosome) can be passed along - and all was fine.

For you, since you know you personally are missing a chromosome, then my guess that they'd give you the chances you already know. I am thinking at this stage, and amnio would likely be the only sure way to find out - but there is a risk.

Going to the genetic counsellor wasn't very tough - just lots of information gathering and giving - perhaps it would help to at least chat with someone there???

Wish I could be of more help!!!

A

PS - Even if you did the test, and it came back positive, it likely wouldn't tell you the severity of the condition in your child. Would it help to know whether it was positive or not, or are you more worried about the severity?

Perhaps it might be helpful to work with your midwife or a counsellor about how to deal with the added worry/burden of knowing that there is a risk, and that it is attibutable to you and your genes?

Sorry you have to go through this hon I hope all turns out OK!!!

A

Miss Charlie,

I am so sorry you are worried. I have been in a similar situation: Just found out last week there is a major genetic disease in my Oh's family that they "forgot" to tell us about (I had a CVS done at 11 weeks due to my age, so it would have been easy to add a check for that disease at that stage when we had asked the families about our health history). We freaked out, of course, and reading about it found out that the kids affected have a huge mortality rate, and even when treated "successfully", are always at risk of dying, with daily medication and worries and learning disabilities. So we made an appointment with a genetic counselor, who confirmed our worries, and immediately suggested an amnio...(truthfully, he didn't tell us much more than we already knew!! - except that he had dealt with quite a few families affected and could confirm what a disaster it is - and these families tend to go for genetic testing on future kids)
We felt very conflicted, as I am 19 weeks along, and we already love the bub. Don't think we could go through with a possible abortion at this stage (nor with the prospect of daily lifelong worries about our child, though, so who knows). Sooo. We went to get the amnio anyway - hopefully it will give us peace of mind!!! We are still terrified, though. We'll hear in 3 weeks.
I was quite worried about the amnio, mostly again because it is so late in the pregnancy (I had done the CVS early on on purpose, before we got attached to the baby - it would have been just like a lot of mc in our eyes, and we had gotten pregnant very easily). But the risks are quite low now (apparently well below the 1:200 typically quoted in experienced hands), and we got both procedures done in a high risk unit.
Not sure what to add. Talk to your loved one about the worst case scenario, a majorly visually impaired/blind child. Would you abort if it were affected to an unknown degree and try again for an unaffected baby? Or would it be a minor adjustment in expectations (different type of schools, dealing with visual aids, guide dogs,...)? It's still early in your pregnancy, so you have some time. I personally don't think a genetic counselor will be of much help, as you already know you are a carrier of a dominant trait... It's mostly up to the feelings of you and the baby's father. Perhaps it would help to talk as a couple to people who are more affected by the condition than you?