Genetic disorders and testing - hypotheticals *BT refs*

Before I answer, what would happen if you were both found to have the gene? I don't know what genetic counselling is.

Can I ask you a different question but related to yours?

Do you think people with genetic disorders should be allowed to have children?

It's not just the impact on your own health to consider.

You could find yourself in a situation where you're expected or pressurised to provide this informtion to a potential partner. The responsibility seems to lie with the female to prove that she is 'free of disease', only if there's a problem is the man tested. Either both parties should be tested, or neither. Carrying a child is enough of a responsibility without shouldering the 'blame' should something be wrong.

Also, there are many other life-limiting conditions or disorders which cause miscarriage, etc, one of which I was found to have. How many do you screen for? Who decides and foots the bill?

Genetic counselling is a non-directive imparting of information. You would be taken through the risks of any child having CF, and what that would mean in terms of care/what to expect.

You would not be making any clinical decisions, it's for info only.

Having nursed many children with CF I would have the screening, not because I would not have the baby if it had CF of course but to be mentally prepared for what lies ahead before the child was born.

Perhaps there is not enough general public awareness about CF and that's why there is the low uptake?

Allowed? What a ridiculous statement. Who's going to stop you?

Could we just give footlong our ideas and not start a thread within a thread and hijack it?

I'd take the test.

My son was tested for it when he was about 5 and baby E was tested in utero. Would have saved a huge amount of wondering and worrying if we knew there was no chance of having it before hand - or indeed knowing there was a risk.

TBH by the time baby E was tested, it was most definitely the best of a bad bunch of things that could have been wrong with her.

In the most superficial sense of the question, yes. I can't imagine a situation where I would advocate anything approaching eugenics. But of course, there will be cases where it's difficult to feel that having children is the same decision I might make, in their shoes.

However, I could think of exceptions where the genetic disorder might render someone incapable of even making a decision to have a child, and then it becomes a balance of what is in their best interests .v. what is right to impose on someone. I don't think it's unheard of for people to have such severe developmental problems that they are unable to make decisions re: contraception/sterilisation/conception, and such the court makes decisions for them. But I don't really see that as taking away their right to have children; I suspect it's touted as being for their own protection.

Stepping away from thread now as exceptionally angry as it is something that affects me and was interested to know the details of the original poster's stand point but obviously not allowed to ask question as I am breaking forum etiquette.

ETA - crossed posts with FTLOMB - I appreciate you taking it the way it was intended but will not bothering answering now due to the above point.

I see that Pittabre chose to delete her response to my reply.

I know what you're saying but I can't help feeling that this is intuitively the correct way. A woman can be sure of her own biological status. She can never be sure of the man's.

Yes I did and have explained why above. I was exceptionally angry but walked away took a breathe and remembered that it wasn't be to show being that angry, so deleted and wrote another one.

Not the original reply, but to answer you; it's not a rule; it's common courtesy. Footlong has asked a question. Please allow us to answer/comment before you ask your own question. I assume she did require answers/comments.

But how would you feel knowing you were the 'defective' one, as i do? It's not nice. Part of me would rather not have known.

Ok, CF is slightly different to your case, as it takes two "defective" ones for any problem to arise with children. So perhaps this issue doesn't apply so much to CF.

However, in your own case, I don't know how I'd feel. Do you genuinely feel you'd rather not have known? Has the knowledge helped your clinical care in any way, or does it appear to be knowledge for knowledge's sake?

Interestingly here, one of the important parameters for a good genetic screening test (at the population level) is that, well, there has to be something that can offered in terms of clinical care. Nobody could get permission to run a population screen for a genetic disorder that offers no intervention/treatment/options.

Very interesting (and ongoing thoughts for your family). It's an issue that has to be considered - when you test someone for XYZ, you are, by definition, revealing information about their family members as well, even those who may not want to be part of a genetic screen.

I absolutely would get tested if it were widely available, and if we both turned out to be carriers I would strongly consider PIGD.

I would have the screening I think. I'd rather know than not know do I could be prepared for the potential outcome.

After our second loss we had karyotyping done to see if there was a genetic issue with one of us/both of us, would it be similar?

Yes I'd have the screening. I think I'd rather know one way or the other.

I am the type of person who likes to know all the possible facts and then make a decision so I think I would like to know if it was a possibility.

I guess as PIGD (for info: screening embryos for certain genetic conditions in an IVF type process) becomes more available and/or more privately affordable, there will be fewer genetic disorders for which an intervention/treatment doesn't apply.

As someone actively TTC-ing I would generally take any tests that I was made known was available to me, obviously weighed up agaisnt any potential risk factors of the test.

Knowledge is always best and helps equip you for your future, IMC.

Helenia - what is PIGD?

Yes. Karotyping - analysing whole chromosomes - could tell you if it was a problem only with developing baby or if it might be something to do with the parents.

PIGD - preimplantation genetic diagnosis. Essentially, IVF where embryos are screened for generic disorders before implantation. Only healthy embryos are used. It's currently licensed for a panel of very severe genetic disorders.

Footlong - will they bring it over to the UK? I guess with all these things it's whether it's common knowledge or not along the masses, like the aminocentesis (had to google the spelling) Or statistically is it considered too rare to promote offering the tests etc?

Ah, I get you. In my situation only one defect is required. I'm trying to imagine that I carried the CF gene and my partner didn't. Some men (or their families even), should they find out, might not take that well. I can imagine some 'less rational' people would assign blame over it. Does that make sense? You're in a situation where you're applying logic to an emotional situation and they don't always rub along too well.

The knowledge had helped my clinical care; I am now 32 weeks pregnant; the defect was killing my babies in utero. However, I've had to make decisions about telling my mother and sister as it's hereditary. So perhaps I'm wrong to say that I'd rather not have known; more that I didn't want to bear the responsibility of it. But that's too bad really; part of being an adult I guess!

Thank you.

As you know I am completely up for genetic screen I've had it my self but for other illnesses.

What you then do with the information is difficult. I was given my risks and told I had, based on family history, till 40 to decide what to do. This as we now know wasnt the case and I had till 31 to make the decision.

You can be given the test results and it still isnt 100% if you would then pass on the gene, knowing you have the genetics is easy knowing what to do with the information is crazy difficult and no amount of counselling prepares your for it when it hits. Its easy to say I would do this that and the other if you are not in the situation.

I would definitely get screened primarily because we've had a similar situation in our family recently and I was surprised how many people felt it's better not to know if your child could have a genetic disorder. I'd rather know as much as possible in the beginning so I could a. start to come to terms with it and b. start to prepare us as best as possible.

I would take any routine and non-invasive screening that was available, wouldn't occur to me not to.

I would be tested. I took all tests available to me in my pregnancy, including finding out the baby's sex, and can't see I'd change my stance on this. I would want to know everything possible about my baby assuming the testing doesn't harm the baby. (Tests with a risk to the baby would be considered on a case by case basis.) If we could know via ultrasound or similar what colour hair the baby would have, or his eventual height etc, I would want to know that too!

We would. We have already discussed it as it was in our IVF 'welcome pack'.

If you'd have asked this pre-babies I'd have said yes, I'd be screened. Much like the test they do in most trusts to determined your chances of an abnormality, I was keen to have that but also unaware of the consequences. As if turned out the test came back as high risk so I decided, after a lot of torture to have an amnio. We wanted to know what we were facing.

Now, after going through what i did with C, I'd refuse testing. I refused the abnormality testing with Henry too this time. I changed. I no longer cared if the baby was 'perfect'. I knew i could deal with anything as long as i got my baby to keep. Some may think that's irresponsible but if itd come to (and it kinda has with the whole cerebral palsy issue going on) I'd research and learn wht I needed to know when the time came. Knowing wouldn't make a shred of difference