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

Jesus, relax there petal.

Shes not saying it’s their fault, she’s saying she has risk factors and hasn’t had any support. She’s anxious and frustrated with the level of care she’s receiving, totally understandable.

There's not a lot that needs to be done so early but your anxiety will ruin your pregnancy unless you get it sorted. My DD was born with a disability that could not be detected through scans, so all the money in the world could not have picked that up at 10 weeks.

Do I not pay national insurance and tax?

The booking appointment is filling in forms, the midwife will ask you lots of questions and give you some advice (like folic acid).

There isn't really much else you need at this point. Advice on supplements etc is easy enough to find, and there is lots of really useful websites for advice or information.

If you want the genetic tests then do it, you appear to understand they don't cover every possible eventuality and only you know how prepared you are for the results.

Absolutely OP, if you can afford it and it would make you feel better then go ahead.

Unfortunately your question will be seen by many as a ferocious attack on the capabilities of our darling NHS, hence the aggressive comments you are getting.

I have no idea wether you do or don’t. I was only suggesting you may get less “basic care” if you go private.

@Nap1983 go and find me literature about bmi and folic acid that would be accessible to someone who's pregnant and followed the procedure of self referral.

www.nhs.uk/pregnancy/finding-out/finding-out-you-are-pregnant/

You seem very angry.

I had the harmony test for the first baby and the panorama with the second. The panorama is more extensive but wasn’t available first time around.
If you can afford it, why wouldn’t you? Even if you plan to keep a baby with a genetic disorder, you’d be prepared for it.
I wonder if the posters surprised by the concept have had babies recently as it’s very common these days.
I don’t see why it’s any different in intent to have ultrasounds that look for the symptoms of these illnesses in the foetus or to have these tests which may pick up a problem earlier.

I'm not even being critical of the nhs.... just asking a question and stating my options. I don't mind paying for the tests but not sure which ones.

Darling NHS....

You mention your BMI several times. Are you very thin (or very large?)

I thought it was common knowledge about folic acid in general (BMI issues aside) and a regular pregnancy supplement will be fine.

I was on high dose F.A with my first as I'd had 3 miscarriages before that pregnancy.

I have a family member with Prader-Willi Syndrome had no idea this could now be tested for?

A regular pregnancy supplement isn’t enough for someone with a high BMI and people in that category aren’t being given the same opportunity to protect their child against neural tube defects, that’s the entire point

Gosh you seem very abrupt in your responses! Hopefully you are a bit nicer to the people who will be looking after you throughout your pregnancy journey.

With regards to more folic acid due to BMI, this is said in plenty literature about early pregnancy. Read some books/ blogs/ forums for advice.You can't expect to be spoon fed, especially as in the UK there is no need to see a midwife before 12 weeks (what are you expecting them to do before this time?)

With regards to your original question, we didn't bother getting further genetic screening (im pregnant with number 2 at a the moment) but i can see why some people would want to! If you can afford it, go for it!

Hope it all goes smoothly for you x

We paid £500 for the Harmony test.

We knew we would be terminating for any chromosome abnormalities so it was worth it for us to find out at 11/12 weeks instead of 22/24 weeks.

You will be getting all the folic acid you need if you are eating a normal diet in UK. Lots of foods are fortified here.

Are you going to terminate your pregnancy if potential issues are discovered? Remember that tests for most of these are unable to distinguish how severely a child would be affected. If you want a termination, it might not be an early one. And at your age, you might not get pregnant again.

When I had my first child, I had the usual NHS bloodtests as routine. With subsequent pregnancies I declined them because I was unlikely to want a late termination anyway and any potentially abnormal results would simply cause worry.

I'm not eating fortified food. I don't eat cereal. Bread isn't fortified. I do however eat about four eggs a day. I've started to eat baked beans.... so not sure I'm really getting fortified foods.

Can't expect to be spoon fed but you can expect nhs literature to point out that obese mothers need to get a prescription of folic acid..... there is nothing on the nhs website

It's for obese women. I'm a size 16.

Thanks.

@rhow the harmoney test just tests three. You can get tests that tests for more issues, why didn't you get that?

@firsttimemumggg I had the Harmony with my first pregnancy and the Panorama with my second. The panorama tested for more micro-deletions etc although I was told there are literally thousands of them so this is just a small sample. Harmony may have developed and may test for more by now as I had it 5 years ago.

The Harmony bloods are analysed in the UK so is a quicker turnaround and (I think) tends to give you a result more often.

Panorama has to go to the States so takes longer and more people seem to get a no result and have to be re-tested. I had to be re-tested twice and wait 10 days each time for results with Panorama (tho second time was Dr error). Harmony came back quickly with no issues.

An advantage of testing early like this is that if you are considering terminating, you can do so a lot earlier than if you wait for NHS combined test at 12 weeks and then do NIPT/Amnio.

I tested as I was in my 40s.

If you are in London/South-east I can also recommend an incredible professor who does very detailed 12 and 20 week scans and is an expert on picking up anomalies early.

I also know a lot of women who choose private care although the reality is that there isn't much that can be done if things go wrong at this early stage (unless women are having recurrent miscarriages etc in which case that is a whole other conversation re treatment options).

All the best with your pregnancy. I hope things work out well x

Thanks.

I'm 38 and really don't know what to do!

Is Harmony a brand as I can get NIFT, Panorama, PrenatalSafe, Prenan Test and IONA.

The IONA I think has a lab in my city - Manchester.

I don't know if I should get all the tests or just the 3 nhs routinely tests for.

It's a bit like knowing you can get more info but yes there are thousands of things that the baby could have etc.

Was the professor positive about the pregnancy etc?

We got the harmony test with my first. The obstetrician then suggested several other add-ons, so to speak. I don’t remember what the adds-on were but it ended up costing around £800.

I’m currently pregnant with my second and we’ve gone for the panorama this time.

Just to add the clinic told me it would take 5 working days for the harmony and 10 working days for the panorama. For both, I got them 4 working days later.