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.