Requesting genetic tests for baby #2?

[bananallamas]

Hi everyone, I have just this weekend found out that I am pregnant with DC2 although it's obviously very early days (I think I'm about 5 weeks). My DD is 20 months and is having a whole range of therapies and investigations as she has a developmental delay, her most significant delay is in gross motor skills but she is also delayed in communication and problem solving. She is having an MRI and is scheduled to have some blood tests soon to find out if her delays have a genetic cause. I'm wondering whether anyone has requested additional genetic tests in pregnancy? The thing I'm really quite worried about is muscular dystrophy - DD has low muscle tone and some of the genetic tests will look for dystrophy conditions some of which are hereditary. However these apparently affect boys much more severely, so I would like to know what the chances are of DC2 inheriting something. Has anyone asked for this or know how I would go about requesting? Thanks sorry for the ramble :-)

I don't think you'd get the test on the NHS without your other child having a confirmed diagnosis.

You'd have to pay for an NIPT test which is about £400 and then request the muscular dystrophy test on top (not sure if every NIPT company offers it - and it may have to be sent to one of the big labs in USA) - I know our paperwork said it was an extra £250 per non standard dna/gene

I think you'd also need to find out if you or husband (or both) were a carrier of the gene to determine the risk factor to the baby?

Then there is the CVS test or amnio - again pretty sure NHS won't give you those unless you were either a confirmed carrier of the gene or your daughter had a confirmed diagnosis as they only offer those to people with a high risk

You should ask to be referred to the regional genetics team. That can be done by or GP or ideally your daughter’s consultant. They will be able to put things into context for you and advise what is both technically possible and worthwhile. Please do not get sucked into paying for random tests in the private sector. As your daughter is being investigated you have a right to a genetics consultation and detailed advice.
Hope things go well for you

Have you and your partner decided what you would do if a genetic issue was discovered with the baby you are pregnant with? If your decision would be not to continue then you'd want to find out sooner rather than later and I'm not sure how quick you would be able to get a GP/NHS referral when it isn't a standard test. I don't think CVS/Amnio can be done until 16 weeks? Definitely get in touch with a geneticist or perhaps the muscular dystrophy charity to see if they have any advice?

In my area I can contact someone for prenatal genetics advice and get information in a few hours/days. There are fast track routes when you are pregnant because it is obviously time critical.

Thanks everyone
@sussexmidwife do you mind me asking who you would contact? I have tried looking up prenatal genetics on our local NHS health trust website but nothing comes up.

I am concerned about the fact that it's time critical - I very much doubt that my daughter will get a diagnosis within the next few weeks, and there is only a certain window within which we would be able to get tests done.

@ivfbeenbusy - we haven't discussed it in depth but this is partly because we don't really know what we are dealing with. She may have something fairly innocuous or it could be SMA or muscular dystrophy although in either case she couldn't have the most severe forms because of her age and the nature of her symptoms. I know this is very personal choice but If I found out I was carrying a child with disabilities then I would continue with the pregnancy only if that child had a reasonable chance of having a good quality of life and life expectancy. However I may make a different choice if for example I was told they were unlikely to survive for more than a few months.

Agree with some of PP - first step is definitely genetics consultation and not paying for NIPT. These things can be very tricky and even with a diagnosis for your daughter, and testing for your pregnancy, it may very well not tell you detailed information about how the pregnancy could be affected. So it’s really important that you get to talk to the right people.

You may be able to access genetics through a fetal medicine service - your GP or midwife should make some phonecalls for you to see what the referral pathway should be. Usually this can be expedited. Also if you have previously met with a geneticist regarding your daughter then definutely try to get in touch with that person; or if you are able to contact your daughter’s paediatrician they may be able to direct you to the right service.

The earliest you could get a proper genetic test (eg CVS) would be about 12 weeks so there is a little bit of time to arrange a consultation before that.
Has your daughter had a microarray test? Or no genetic testing at all until now?

@bananallamas ideally I would suggest you talk to your daughter’s consultant. If not you can ring your maternity unit and speak to the lead midwife for screening They will know how to get rapid access to the prenatal genetics team. That is a regional service & you need to be referred to them

Hi, we are waiting for genetic testing atm. Going to have a cvs (can be done from 11 weeks). We're under the clinical genetics team at our hospital, initially we were referred by the gp because abnormalities had been found in other family members. The team have been amazing and very helpful with screening, liaising with fetal medicine etc. Definitely try this route if you can. Hope that helps, and good luck with your pregnancy.