Screening for genetic disorders before trying to conceive?

[JoannaStayton]

Hello.

This is my first post here so apologies if not conforming to any rules.

My partner and I would like to have a baby but he is particularly concerned about any issues around having a child with a disability. I've been looking for information on Google about the potential for us to have genetic screening to see if we're both carrying any recessive genes that when combined have the potential to cause an issue and may influence our decision to proceed. I'm struggling to find anywhere that looks as if it can help us. It seems this is more common in the US than the UK (where we are based).

Does anyone have any experience with and could make a recommendation of somewhere we can use? Appreciate that this is unlikely to be an NHS thing, we are happy to pay for it.

I know many people have lovely children who thrive with various disabilities so I hope no one takes any offence at this query. I also know that things can go wrong at any point during anyone's life and having a child means you have to accept that, we absolutely do. I'm just trying to be as fair to him as possible when making our final decision on whether to go ahead in the first place.

Many thanks in advance if anyone can help us.

I've only heard of this for specific conditions that already run in the family, such as cystic fibrosis.

The problem is that there are literally millions of genetic conditions that can be inherited...

If you Google 'Genetic carrier screening should be recommended to all prospective parents' you can see a link about this test but it refers to Australia.

"Cystic fibrosis, Fragile X syndrome and spinal muscular atrophy are three of the most commonly inherited genetic conditions. They all have serious health consequences and in each case, there's no cure.
One in 240 couples were identified as having a high chance of having a child born with one of the illnesses, and approximately one in 1,000 pregnant women had an affected pregnancy — which is comparable to the estimated incidence of Down syndrome."

If it's recessive you might not know it's in your family, it's about whether the combination of the two of you triggers it.

To be honest I'm surprised this is so hard to find out about.

OP why not contact the Fetal Medicine Centre in London. They are world renowned experts and if you can get this screening in the UK, they will likely know where you can get it.

It’s definitely possible to do. I’m not sure where you’re based but a minute on google unearthed this place for me:
www.thisismy.co.uk/dna-genetics-tests/

Each area has a clinical genetics unit, often based in the tertiary hospital for that area. So I would look that hospital for where you live up online and find the department, ring, and see if/how they see private patients. You may need a letter from your GP.

NHS waits are long (eg for newly diagnosed young patients with breast cancer and other standard referral reasons, often 6 months +) and currently (thankfully in my opinion) there is no push for this to become mainstream.

I'd also have a think about what being "fair to him" means for your relationship and why, if he has the problem with having a child with a genetic condition, you're the one finding out about how to test for it.

I'd contact the clinical genetics department of your nearest large hospital and they should be able to advise you how and where to go about this. It's something that would have to be done privately as you've said.

I was referred for NHS genetic testing in November 2016 and have an appointment with a geneticist this afternoon, slightly different for me as I have what is suspected to be an inherited condition. Genetic testing won't do anything for me, I already have it, and I don't have any affected siblings, the only people it will benefit is any children that I have. I'm currently in limbo somewhere between knowledge is power, and ignorance is bliss...