AIBU to get all the chromosomal tests done?

[firsttimemumggg]

10 weeks, first time pregnancy. I'm anxious about the health of the baby. Would I be crazy to spend £600-1200 getting tests done for chromosome disorders like Prader Willi and Jacobsen. Lots more that I haven't heard about.

For reference we all seem healthy in my family, no health concerns.

The tests the NHS do would cost about £400

It's up to you and how you'd feel about knowing the results. If your going to pay for testing you'd might as well pay for additional tests on top of what the NHS tests for.
I didn't get testing other than the standard NHS tests, however I didn't actually know I could.
I would of considered it as long as there was no risk to baby.
In terms of seeing a medical professional prior to 12 weeks, there are many options if you need them. You can contact the midwifery service and request they see you sooner, can request an urgent appointment with your GP if you are concerned about your pregnancy etc.
And Google has a wide range of information if you look at forums etc.

Bread is fortified with folic acid if it's not wholemeal, which is already high in folate

I don't know. I guess it could reassure you but as a mother of two disabled DC, other than my son wrongly being diagnosed with talipes during pregnancy, I could not have known much more about either of their conditions during pregnancy. I would focus on improving your anxiety and keeping as fit and health as possible.

@Redebs bread doesn't have folic acid added to it. It's been proposed to be added to white bread

@firsttimemumggg Yes Harmony is just another brand like the Panorama. Panorama cost me £550 btw not thousands. I've not heard of the others that you have listed but most of them test for similar things.

The professor was positive about our pregnancy yes and it was way more reassuring than my regular NHS scans because his whole job is to spot anomalies (in his NHS work as well as his private) so I knew he wasn't going to falsely reassure me. The NHS are great but when they picked something up so were so desperate to stop me panicking that I could barely get them to explain what the issue was. Whereas with him I knew he would tell me straight.

I was at a recurrent miscarriage clinic so had a lot of additional care anyway through that. Mostly it was just reassuring to know that they were on the lookout for any issues.

Get the testing done if it will reassure you (FWIW I had the Harmony test during two pregnancies 8 and 6 years ago as I was over forty and had had previous miscarriages), both showed no issues, but I still miscarried one of the pregnancies so it's also no guarantee that everything will progress smoothly.

Ultimately you cannot control everything, and becoming a parent is very humbling in that respect. There is no antenatal test for autism or ADHD for example. A positive result for Down syndrome cannot tell you how severely affected your baby may or may not might be. Things can go wrong later in pregnancy for no apparent reason. I would therefore suggest that if you are suffering from anxiety at this point that you flag it at your booking in appt and seek some help now. You want to enjoy your pregnancy and parenthood, but you will also need to accept that you have to relinquish control over every outcome. Good luck.

Oh, and size 16 may be what the NHS term as 'obese', but a normal dosage of folic acid should be fine. My BMI was 35 and, although I was aware of higher dose advice, my consultant wasn't overly concerned.

OP I had a private NIPT test done with my third baby. It was called the MaterniT21Plus test and covered a large range of things. I had it in conjunction with a private scan. No one’s choice but mine, I was very lucky to be in a position to afford it, but it gave me a lot of reassurance. Of course, no test can pick up everything and obviously if it does, what you do with that information is again no one choice or business than your own. Good luck.

@Redebs brown/whole meal bread isn't high in B9.

As someone who suffered with dreadful anxiety throughout both my pregnancies you have my sympathy and if you want to spend your money on these additional tests that’s your call. However, my view is that it may only temporarily ease your fears and worry and you will find other things to panic about throughout your pregnancy and even further once your DC is born. It’s no way to live and I think I would prioritise dealing with the anxiety instead if you can.

@Janefx40 how very reassuring! As I haven't had an reason to see the consult (eg known medical issues) I need to get my anxiety into check!

Thanks. It's got better the past few days. I think it's just not knowing what the future holds for having a child with medical concerns.

I'm sorry to hear of your miscarriage.

I was 25, slim when I had my baby 5 years ago. The tests that happen as a matter of course (Down's, Edward's etc) all came back clear so all things considered, we thought we were ''in the clear''. Pregnancy totally normal, 2 week overdue.

My now almost 5yo DD is non verbal autistic with a rare genetic disorder - only about 30 cases total in the UK.

If it would ease your worry and you can afford it, go for it. Unfortunately, its unlikely the testing would be pick any and all possible complications.

Knowing what I know now, I wouldn't bother.

Thanks for sharing your story.

I think I need to sort out my thoughts about having a child who may have a disability and how I would manage our lives. Having to give up work etc.

Well at least she would know then wouldn’t she? Why is everyone seeing choice and information as such a bad thing? Knowledge is power, if OP can afford it I really don’t see how it’s any more anxiety inducing or ‘immoral’ than any of the other tests/scans

You can have a microarray (which I did, if anyone wants to judge me, go ahead) which picks up duplications, deletions and and other chromosomal issues. Of course it isn’t a fail safe, but it gave me a certain amount of peace of mind, which I considered worth the money.

Yes my sons microarray, picked up.his micro deletion,I'm not hiding anyone as it's affected my son severely,what it can't tell on is how an abnormality might affect a person ,because whilst it's affected my son significantly, there are many people do have a same or similar micro.deletions ,with little or no affect .

Judging*

Thanks for sharing all.

@Garethkeenansstapler I guess it creates a moral issue - to terminate or not :(

The wider the panel of genetic problems the test picks up the more false positives you come across causing all sorts of difficulties in decision making. I read about people terminating who then found out they actually had a false positive. I was of the opinion that if you could test why wouldn’t you (and accepting therefore a negative would be even more reassuring). But you can go down a rabbit hole. In end settled for harmony with detailed anomaly scan. On the basis the professor who offered it didn’t recommend panorama etc because of the potential inaccuracies

i got really stressed about the whole thing so I can sympathise.

Well yes. I would’ve terminated for any condition which meant the baby would’ve been dependent at some point in the future on my older child (or would be likely to do so). I wouldn’t have terminated for anything where it was likely they would live independently with (for example) just some adaptations in their residence, or medication/surgeries.

Of course, if mine had picked up a microdeletion or similar I would’ve consulted with somebody with knowledge of the condition and worked out how likely it was to severely affect them, and made a decision from there (hope that doesn’t offend)

Unfortunately nobody can really tell you until the child starts to develop,many people are seemingly ,only mildly or not affected and some are very severely affected ,there is still very little known about many rare chromosome disorders

I wouldn't. I have child with a rare chromo disorder (worldwide less than 100 cases). There are thousand of these disorders around which are rare and no antenatal test would pic them up. Generic testing can take a long time. Our results took over 6 months and were considered fast. Microarray testing is different to a normal blood test. Some people wait 1-2 years. Also, our geneticist said that for most kids with e.g. ASD and learning difficulties the generic tests do not bring up a result.

My child is in a special school. I know a number of parents. Most have children with ASD and learning diffs and most do not have a genetic diagnosis and do not know the underlying cause of their child's disability.

Also, things can go wrong during birth.

As long as you know that the overall majority of chromo issues will not get picked up by antenatal chromo testing and as long as you are aware that many disabilities do not show on scans and do not have an underlying genetic cause, then go ahead. But these test are by no means the guarantee you seem to be looking for.

I didn’t get any testing done, because I knew I wouldn’t terminate whatever I found, and had there been a false positive, I would have spent my pregnancy worrying unecessarily. So my advice would be to decide whether knowing would make you behave differently, and if you wouldn’t, then don’t test. That said, if you think you would keep the baby, but want to mentally prepare, then that’s also another valid reason.

I think NHS advice is that older women who want to get pregnant, or who are in the early stages, should see their GP. I guess that might not be as easy as it sounds nowadays, but presumably they would advise you on folic acid doseage.

Whatever you decide, I wish you all the best and hope your pregnancy goes smoothly and you have a lovely baby.