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Sunday, 13 November 2016

Knocked up...now what? Chromosomal Testing



Having lost 3 babies, one of which we know was due to Trisomy 21 we knew we  wanted to have Non Invasive Prenatal Testing (NIPT). From the moment we found out we were expecting again we were counting down until we got these results and were treading on eggshells until we got to the 11-13 weeks window.

My husband was in the UK for my 12 week scan but I was lucky enough to have my parents visiting, so it was extra special to have my mum with me that day. The ultrasound went well, I was ecstatic, and my mum was blubbing too. Dad was in the waiting room (fairly clueless of the significance of any of this). We had passed the first test and knew that there were no visible signs during the nuchal translucency scan, I was so happy but I knew that my husband worked more on hardcore facts so the NIPT was still equally as important.

We (mum and I) sat in the Doc's room whilst she tried to explain the various NIPT options. She did a reasonable job of explaining the options, but not so much that I could list them here, but it was clear that they recommended tests emanating from the US. She gave me three general options:


  1. Test for just the major chromosomal deficiencies
  2. Test for the the major chromosomal deficiencies and microdeletions
  3. As above but include tests for every known deficiency and microdeletion that they have discovered and can test for
  4. (plus option for gender testing)
I hadn't researched much, but as they were only taking my blood and it was totally non invasive I was happy to make a decision on the spot. I wasn't quite sure what hubby would say, would he think the full tests were too much (and too expensive), would he think just the basic test was not enough, would he think that if I compromised in the middle I might as well go all out? I plumped for a compromise and opted for the middle option and said yes to the gender testing.

Dr. Somri advised that she would be using the Panorama Test, my blood would be sent to the US, and the results would be back in 2 weeks, and the cost (at Bumrungrad) was THB26,000.

I signed the consent form and was directed over to the lab section for more blood to be taken (I have lost count how many times I have had blood taken in Thailand). They took a couple of viles, I paid the bill and went home to google.

It seems the Panorama Test is popular in Thailand, there is even a www.facebook.com/Panorama-NIPT-Thailand page, this seems to be linked to a clinic, Bangkok Cytogenetics Center Co,.Ltd., in Thailand and has genuine reference back to the Panorama website. I have contacted them to ask the cost and they told me it costs from THB17,500 to THB25,000 depending on the hospital, so you can conclude that Bumrungrad is probably the most expensive place to get the test done (story of my life).

Still, I was happy with my choice, felt confident in my decision and was now ticking down every day until we received our test results.

Two weeks later I was back, with my hubby (this time with both parents in the waiting room) and literally speechless with anticipation. Dr. Somsri must have realised how anxious we were so, almost without speaking first, she shoved the test results in our faces.



The first thing my husband saw was that it was a girl, OMG we're having a girl (this was also confirmed by our ultrasound later), the first thing I saw was that we were low risk for Trisomy 21. All of the rest turned into a blur as we scanned the page seeing low risk, low risk, low risk. I cannot explain what a relief this was.

I kept reading the words low risk over and over again. Of course nothing is foolproof and I have since updated this blog to ensure that I remind people that an Amniocentesis or CVS is considered a more accurate diagnosis, but they are invasive procedures. Had we not obtained such low risk results we would have gone on to have an amniocentesis, and we realise that the NIPT results do have a very small element of false negatives and positives, but in our view so does everything to do with having a baby....until they are in your arms.

In case you can't read the photo the test included the following:
Trisomy 21
Trisomy 18
Trisomy 13
Monosomy X
Triploidy/Vanishing twin
22q11.2 deletion syndrome
1p36 deletion syndrome
Angelman syndrome
Cri-du-chat syndrome
Prader-Willi syndrome
Fetal fraction means how much of the babies DNA did they manage to extract from the mothers, I understand 10% was normal, but I think you can get results with less (check with you doctor).

CONCLUSION: If you are anxious about chromosomal issues, we would highly recommend getting NIPT. If you are concerned with costs, it may be worth contacting the  Bangkok Cytogenetics Centre to find out how to obtain the test at a cheaper hospital, although we were, and are, very happy with the service at Bumrungrad and Dr. Somsri.


When I updated this post I did realise that our Doctor had not made the accuracy, or otherwise, of any of the Chromosomal tests, clear to us, at least not in the way I imagine a Doctor in the UK may have done. So if you are abroad I cannot stress enough the importance of doing your own research. I am happy to help with any research, just post a comment and I will respond with any data or information I can find.

4 comments:

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  2. HI there, firstly thank you for being an absolute fountain of knowledge. I'm 11 weeks (in Bangkok) and have been following your blog. I'm sure you're super busy as I think your baby might have arrived by now (congrats if so!), but I've been wondering about these tests. I have the NT scan booked for next week and I'm just clueless about what other tests we should be having. Is the NIPT the standard blood test? Or do you know whether they do more basic ones, i.e for Hep B, sickle cell etc? Do some people opt out of blood tests altogether? Thanks again

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    1. Hi, I'm so glad you find the blog useful and massive congratulations on your pregnancy! Its so great to have feedback, so thank you, and yes, I have had my baby girl. She arrived 9 days early so we are in a bit of whirlwind at the mo, but its a super special time, that you will cherish!

      Regarding the NIPT test most Intl hospitals will offer it to you and make it sound like standard, but actually this is totally up to you. The NIPT test will provide you with information regarding the likelihood of certain (most significant) chromosomal irregularities but it is worth thinking about how you would react and what you may do before you spend money on the test. Some people know what course of action they would take in advance, others want the information regardless so that they can plan for the future. Some people are also conscious that the law in Thailand is different with regard to terminations, so that may also affect peoples perception and course of action.

      With regard to other tests. You will have a CBC (Complete Blood Count) taken at some point (for me it was at 28 weeks) see this article for details of what a CBC can cover http://babyblueinbangkok.blogspot.com/2016/05/getting-preparedam-i-healthy-costly.html (have a look on the Glossary page on my blog to help understand what some of the tests are for) They will also insist on taking an HIV and Syphilis test at some point (probably at the same time if not before).

      I was previously tested for Hep B (HBsAg) during my "pre pregnancy tests" so don't know if they would have scheduled one during my pregnancy, but suggest you ask your Doc about this.

      For sickle cell I am assuming this falls under the CBC test (for haemoglobin S), but again, to be sure you should check with your Doc. We didn't have a history of it so didn't delve deeply into it.

      You can opt out of most, if not all, tests as far as I'm aware. At times I refused repeat blood tests and ultrasounds during my pregnancy when I felt they really weren't necessary. Of course, if you have insurance then this may not be such a worry as it is likely that your policy will cover it (although make sure you check).

      It is worth remembering that private Intl hospitals will check for much more and carry out many more procedures in order to charge more money, its a fact of life here unfortunately. I found that the best way to deal with this was to make sure they told me in advance of my appointments (sometimes it is worth calling a day or two ahead or an appointment and ask the nurses station to clarify what tests or procedures you have been booked in for, as sometimes the Doctors don't always tell you) and then I could research if it was something I was happy to have, and pay for.

      Some Doc's are better than others for explaining things, and for ensuring that you do not have to pay for unnecessary tests and procedures, if you'd like to know what Doc's the expat community recommend for various types of pregnancy and birth approach let me know, I can pass on some recommendations :-)

      Once again, huge congratulations! Help everything goes well with the rest of your pregnancy and don't hesitate to let me know if I can answer any more questions for you, I have already mastered the art of typing with one hand whilst cuddling my baby girl with the other :-)

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  3. Thank you so much! And congrats again on your new arrival! We ended up going with the first tri screening (downs + edwards I think) as well as a whole heap of other blood tests for me, fingers crossed all results are good :) Thanks once again, your blog has honestly been so very helpful :)

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