To not do genetic testing

[LavenderSweetPea]

DH and I are trying for a second baby. I know there are tests you can do to show if either of you carry any genetic diseases which could be passed on to your child if you both carry the same faulty gene.

I want to do the testing, but DH isn't sure.

For context, since becoming a parent I've met a good number of parents with children with quite severe genetic conditions - some of which were randomly occurring and couldn't have been foreseen, but some where it turned out both parents carried the same faulty gene and their child has the condition. Our DS is 2 and healthy.

DH says we can't protect ourselves against everything, and I do know that, but I'd feel so guilty if my child inherited something from us when we could have tested ourselves and made an informed decision where we risked TTC again. DH also feels the tests are very expensive (about £1200) and our money would be better spent elsewhere. We earn decent salaries but a large amount does on our mortgage and childcare, but I think it would be money well spent.

YABU - What a waste of time and money don't do it
YANBU - it's sensible to do it

Unless you have money to throw away I wouldn’t

What exactly are you testing for? There are generic panels looking for things like some cystic fibrosis variants but it depends on you and your husbands ethnicity.

Doing a test like this will not guarantee that you will not have a child with a genetic condition. If there is a specific condition that runs in either of your family's then you need to speak to a genetics counsellor (it may have been bad luck, need to be inherited from both sides, just from one parent or only likely to affect male children). There are millions of genetic conditions, you need to know what is being tested for to exclude it.

Do you have any reason to think you or your DH carry genes for a genetic condition?

Unless yourself or your husband or your families have history of any genetic conditions I wouldn’t bother and like you say, some occur randomly

How many people have you met with severe genetic conditions and is there any reason you have met a good many of them? Severe and rare genetic conditions are thankfully rare, hence I was wondering.

I had generic testing due to a pattern of losses. My husband too.

i found it incredibly stressful and would not suggest it to anyone who doesn’t really have need for it.

All was fine and we ultimately finally had a happy outcome but just the thought of it takes me back to a very unhappy, stressful time.

What will you test for?

I think you'd have to know what you were actually testing for because the tests are not just random.

My DH developed Motor Neurone Disease last year, 25 years after his father had it. Our children are grown up now, but when they were small it wasn't thought to usually be genetic, often occurring randomly. So it wouldn't have occurred to us to test, and I don't think there was one available back then anyway.

We now know that in some rare cases MND is genetic, including in our family, unfortunately. DH had wanted to join some of the drug trials going on in London and we needed the genetic testing done first to see what he might be suitable for. That's how we now know he had one of the rogue copies of a gene known to cause it and it had gone very, very awry. However, they did know what they were testing for in my DH's case.

You are just talking about random testing? I doubt that is a good idea. Unless you are aware of stuff like cystic fibrosis in either of your families. In such cases though, would you not be offered the tests on the NHS? I thought that was the case, but could be wrong.

Also, I understand that having the genetic combinations and rogue gene mutations that can lead to some conditions doesn't necessarily mean that the person is always guaranteed to develop them. So just throwing that into the mix too.

Counselling is often recommended in cases where genetic testing might be considered necessary.

Just to answer a few questions, no I don't have any specific reason to think we would be more likely to carry anything than anyone else. Yes I am thinking random testing - there's a company that do test for about 1000 different hereditary conditions for couples TTC that would show if you carry anything relatively common.

@ReplacementBusDriver our town has a center for children with all kinds of SEN and disabilities, people come from all quite far afield to send their children to nursery at this center. It's run by the council but they also run all kinds of free groups for all children (not just SEN) but they are particularly well attended by parents with children who have additional needs because the staff are very familiar with how to operate these groups to include everyone. I guess that's skewed my view a bit, it's hard to see how much some of the parents struggle.

Would you be offered any counselling if you test positive?

Or just bish, bosh, on your way? It could be devastating to hear if positive (although that sounds vanishingly unlikely if theres nothing in your families).

Is this testing company reputable/reliable?

If you do have the genetic testing & there is something that comes up, what are you going to do with the information? Will you abort? Not try for a child? There has to be some sort of planned end result.

You could test for all those things and still end up in the same situation OP, nothing gives you any guarantees. If it’s such a deal breaker it may be best not to TTC regardless

We did genetic testing, but it was specific for CF and was done by the NHS.

My husband knew he was a carrier, he tested a long time ago as he has cousins who have CF.

My test was negative. We wanted to know so we would be prepared.

Treatments have come on massively since I tested. Our DC will need to decide in due course if they want to test.

If you have no family history of any genetic conditions there’s no point. Unless you have a very small biological family, it’s highly unlikely you're both randomly carriers for the same thing.

It’s not a rational thing to do in your circumstances - what’s driving this?

I would consider it if I had a family history of genetic conditions but I wouldn’t if not. I have 3 children and it didn’t occur to me. If you do the genetic testing and it’s positive, would you abort? If the answer is no then why bother?

I totally understand that there are specific occasions where genetic testing is absolutely the right thing to do but I think that companies that offer it to people who don’t have a specific reason to need it are just preying on vulnerable and anxious individuals to make money.

Most people are carriers for a genetic condition. I for example am a carrier for a genetic condition that's absolutely horrendous and any children born with it are life limited, dying by the end of primary school. I found this out by chance as I was being (NHS) tested for something else and said I was happy for incidental findings to be disclosed.

The testing you mentioned tests for around 1000 genetic diseases. There are many, many more genetic syndromes that are unknown. Children are known as SWANS i.e. syndromes without a name. To test if you are a carrier for one of these, you need to know what it is in the first place. There are also de novo genetic mutations that happen. The parents aren't carriers for the disease but it appears in the child.

Even if both DH and yourselves are carriers for the same genetic diseases then theres no guarantee that you WILL have a baby affected. It all depends on things like if it is autosomal dominant (1 in 2 chance), autosomal recessive (1 in 4 chance) and then things like penetrance.

Honestly OP, I wouldn't bother.

Are you from a particular ethnic background and the people you are speaking to also from a particular ethnic background?

In your situation with no history of genetic conditions no I wouldn't do it.
I wouldn't trust the results from the test you describe either. How sure are you that it is accurate?
But also your test could show nothing up and you could still have a child with a disability.
There are no guarantees.

If you have no family history of any genetic conditions, why has it crossed your mind? My daughter was born with a rare genetic condition that affects less than 0.001% of the population. It was a sporadic mutation, so even if DH and I had been tested, nothing would have come up because it isn't something we've passed on to her, just something than randomly and unfortunately happened to her. So you may pay £££ and it would be pointless anyway for some conditions.

I wouldn't bother. Screening at birth missed a rare form of CF in my brother. He was diagnosed in his 30s! Has just had his first child, CF ruled out through thorough screening of the embryo, then some congenital heart issues were possibly sighted during the pregnancy, then others in days after birth, then fully ruled out a week later through more rigorous testing. Exhausting and stressful and just shows there's an infinite range of things that can go awry and get missed in the incredibly thorough testing he had as a person with CF.
Unless you've a family history or know you're a carrier of an abnormality I'd crack on. You've had a healthy child which is pretty good evidence that you're healthy too.

You can test for the known or common 1000 but still.get oneof the 6,000 to.10,000 disorders or something else de novo.
Having a child is a lottery
If you do not want at any cost any kind of issue do not get pregnant.
(Not to mention any child can get sick or disabled in life but you do not plan you deal with it if it happens)

I wouldn't do it.

My youngest has a chromosome abnormality, observed at birth. The blood test for it however is apparently only about 70% accurate because it's not common, and their bloods said no. So we technically have no diagnosis (but every specialist consultant we have seen has said "oh yes, clearly")
So my point is you just can't tell. Chances are you'll get a whole lot of "possibles" which will just worry you.

There are pros and cons I think. I have a genetic condition, no one in my family had been symptomatic, though I am quite badly affected. When my eldest child was born 20 years ago I had genetic counselling before and was told the chance was extremely slim, things have changed in 20 years and all three of my children have the condition, two mildly and one severely. They will also pass this onto any children they have, it is both AD and AR, so will have to have fertility treatment when they get older if they want children without the condition. The issue is genetics are developing all the time, I only had my genetic diagnosis five years ago, and they may not be able to identify something that may present in the future. It’s difficult but I think I would.

@LavenderSweetPeawe did genetic testing, a test called the pan ethnic carrier screening

my obstetrician mentioned it as a non routine test and I straight away said yes. He said it was typical that people who have been through my experience of TTC (endometriosis, surgery, IVF, miscarriage) to view more information as a good thing. He also said that type of journey can remove the belief that everything always goes to plan - there’s definitely some truth in this being why I wanted to do it.

My husband has some hereditary dysplasia’s on his side but they’re typical due to historic intermarriage on his Kurdish side. I’m from a completely different ethnic background so the chances of having the same mutations were low. Turned out to be correct

I still wanted to do it. We actually live opposite an academy for severely disabled children and maybe that played on my mind. I think also it had been a hard journey getting here, as mentioned, and I don’t assume things will be smooth sailing

My DH wasn’t sure about it either btw. He stalled in the appt and the obstetrician asked if he could help with his concerns. He stuttered a bit and then said “what does the test involve” and the dr said oh it’s just a blood test. He then completed the forms. My DH said he needed to go straight to the office and would do it another day. The dr said we got a discount for going in together 😂. So we got him over the line in the end

My DH though would find the idea of a defective gene very hard as he has OCD and has found various quite basic tests throughout the IVF process mentally difficult

Good luck with everything xx