Has anyone had genetic counselling?

[Orb]

Hello everyone, has anyone here been for genetic counselling and if so, what form did it take and did it influence your decision, one way or the other, to have any more pregnancies? What odds were you given for having another child with difficulties? If you did go ahead with one or more pregnancies after counselling, did the resulting child/ren have problems? Thanks.

Yes we have had it.
And we went ahead and have another child with no problems.
We were given very low odds of another child with dd's condition (Noonan Syndrome) as her case was spontaneous mutation, not inherited so risk was below 5%.

So we winged it.

no, they can't predict for the condition 2/3 of our kids have (ASD). We would have taken counselling had it been offered as we are expecting agin but the odds seem to be guesswork really and therefore just have to go for it and see what happens.

I have been offered genetic counselling and the odds of DD's condition affecting future children ae well known, so now I'm wondering why they think we need it? Xp and I won't have more kids together so unless our future partners carry the same gene mutation DD's condition won't happen. Or do they go into where it came from etc? Did peoples own parents get tested?

We've discussed with a couple of drs having genetic counselling, not that we are thinking about having another child just yet - DS2 is a full-time job at the moment.

We don't have a dx yet, and the next step is going to a muscle biopsy and spinal tap (which will need to be done under GA), and I think the counselling will depend on what / if they find anything.

One dr referred to DS2 as an "accident"! I guess he may have meant that due to there being no family history of anything similar, that whatever has caused his difficulties was spontaneous.

Good luck with any counselling you have,

Yes, we had genetic counselling.

Dh has a fairly rare genetic condition (Marfan Syndrome). His was due to a spontaneous genetic mutation. I approached my G.P. when we had decided that we would like to have children, as I needed advice. Looking back, I was very much in the dark as to what dh's condition could involve. Dh had his share of problems, but nothing really major. I was told to "carry on" as it could take me a while to fall pregnant. There was no mention of counselling. 6 weeks later, I was expecting

We had a genetics appointment when I was around 8 months pregnant. They basically checked dh out, and agreed with the diagnosis. They took dh's family history, and drew up a family tree. They said that any child we had would have a 50% chance of having marfan's. I can't remember whether they took blood from dh at that point, or if they waited a while. It took around 2 years to find the affected area on the gene to compare with samples from our children (this is now much faster due to new techniques).

Ds was born, and was clinically looking OK. They had to do the genetics test to make absolutely sure though. Thanks to contraceptive failure, I fell pregnant again when he was just 6 weeks old Dd looked very different to ds... much longer and thinner. Marfan's was suspected, but they couldn't confirm it until we had the genetics test. Before we had the tests, it was explained very carefully that a positive genetic diagnosis could mean that it would be difficult to obtain life insurance, and several other things. We had the test because I didn't want our children to either slip through the net and not have vital check ups, or to have check ups if it wasn't really neccessary.

The day that we had the results was like a double-edged sword for us. On one hand, ds was in the clear. Dd had got Marfan Syndrome. Although we knew that she had probably got it, seeing it in black and white still hit us very hard.

The clinical genetics team were brilliant, very supportive. We can contact them anytime if we have any queries. They expect us to go back as dd gets older, and has questions of her own to ask them. Dd is now 4 and at school. She is affected in more ways and at an earlier age than her Dad, which is quite sad. Dh finds this particularly hard to deal with.

We had genetic counselling and testing.

Our DD2 has a rare genetic disorder that occurred spontaneously. We were seen initially when she was diagnosed at 4 weeks, as they needed blood from both of us to see how her condition occurred (it can happen one of 3 ways and one way was more likely to reoccur).

Then we asked to see Genetics again when we were thinking about having another child. They reassured us that reoccurrence risk with her phenotype was less than 1%.

When we were pregnant we were offered an amnio, which I accepted as even though I knew the risk of having another baby with her condition was very low, I wanted to know 100% and also wanted to see if the baby had any other genetic disorder.

As it turned out DD3 is fine. I found the genetics people very helpful and the amnio (whilst nervewracking) was reassuring. For me forewarned was forearmed!

deepbreath that goes with what we were told about DD
Her Noonans Syndrome is spontaneous mutation and now she has 50% chance of passing it on if/when she has children.