I thought I should write something on this blog about all the tests that are done or made available for moms especially for moms who are 35++ young. When I got pregnant I didn’t do much research about the tests that would be available to me here in Malaysia. It is known that moms after a certain age has an increased risk of carrying a child with chromosome abnormality. I knew.

On my 12 weeks scan with Dr A, she did a lot of measurements of the baby. She measured the baby’s nuchal translucency (NT) at the back of the baby’s neck, the reading was 1.7mm, everything looks good she says (from my reading between 1 and 2.5 is good), the baby’s femur length was a little shorter than his other parts but that too was normal for Asian. I thought that was it. When we changed Obgyn, my new Obgyn also did the same measurement, this time he notes to us that there is a nasal bone present in the scan. So when I got back home, I search for this info on Dr Google (obviously). My baby’s nuchal measurements and the fact that the nasal bone was seen on the scan means there is low possibility of T21 or Down syndrome. At least that’s what people were saying. I was sent to do a glucose tolerant test at 15 weeks, at the same time the Dr had me do a Triple serum test. The triple serum test will give you the probability of the baby having chromosome abnormality mainly T21, 18 and 13. I wasn’t aware I was taking the test. The Dr probably told me and it didn’t register in my head or I was just too busy ogling at the baby’s ultrasound picture to pay attention. On the day of the test I looked on the form and only then realized other than the glucose tolerant test I was also taking the Triple Serum test. Since I didn’t know I was doing the test, I did not google beforehand so I was in the dark as to what the test was for.

The test result came in almost 2 weeks after the draw. The Dr’s clinic called me up and told me the result were in and I had to come to the clinic to see the Dr to have him explain the result. In my gut I knew something about the result wasn’t good. They won’t call me in just to chat. I told DH I hope it is something we could fix and not anything wrong with the baby. So we went to see the Dr. The result of my triple test shows that my probability of T21 was 1:64 those are not good odds. T18 and T13 was low risk at 1:10,000. I was offered 2 options. One was amniocentesis where the Dr will use a long needle and extract some of the baby’s amniotic fluid, but this carries some risk of miscarriage. The other was to do a Free Cell DNA test – 99% accurate. This test is noninvasive, they will need my blood and from there extract my DNA and the DNA from the baby’s placenta. For me it was a no brainer, we would do the DNA test and if the test come out positive we MIGHT think about having amino done. The result takes 2-3 weeks. It was the hardest 2-3 weeks of my life. I started to google franticly about Free Cell DNA, not much info locally but I came to learn about MaterniT21, Harmony, Verify and Panorama from people from the US. I didn’t know which one I was taking, I didn’t even think to ask the Dr. From my online research I found out that the Triple serum test has a lot of false positive. 1:270 is the cutoff point of the test anything below that is considered positive or high risk of chromosome abnormality. After the Dr’s appointment I was rather numb. When we got back home I cried a little, I asked DH what would we do now? He told me to have faith, pray that the baby is ok and wait for the official result. It was so much easier than done. I wanted to have a plan, but DH thought it would be premature and we should talk about it when we have all our facts. I would go for days on out researching, going into forums to seek advice from people with similar experience.

Not knowing when the result would come in, I made an appointment to see a high risk Dr., Dr Raman. He was recommended to us by Dr A. We had an appointment for a Detail Anomaly Scan that should be scheduled between 18 weeks and 21 weeks. I made an appointment to see him at 19 weeks. After explaining my background, the Dr told me point blank that we will not be able to tell if the baby has Downs from the scan, T13 and T18 will be more apparent on the scan but baby’s with this abnormalities in most cases doesn’t make it. But we would be able to see soft markers from the scan of the baby’s brain and heart and stomach. He also asked about the tests I took. He says the test were a waste of money. I should have had a first trimester screening which would give me a 90% accuracy or just proceeded to do the DNA test. The DNA test itself has many options and brands. In his professional opinion Panorama would be most accurate. They will however need to send our blood to US to get tested. We proceeded with the detail scan. Baby didn’t want to sit still or have his picture taken, must be camera shy like mummy ❤ The appointment made me feel at ease. The baby’s brain, heart, stomach , kidneys and spine looks normal and I have gained a lot of new info that would help me make better decisions with this pregnancy as well as when I get pregnant again insya Allah.
What I would do next time:

1. Don’t take the Triple serum test. It takes into account the mother’s age, weight etc. to calculate the probability. For my age, my risk is straight away 1:102 which is high risk. If you are pregnant through IVF or taking progesterone in early pregnancy this will also affect the readings.
2. Request for first trimester screening
3. Go straight to free cell DNA test – preferably Panorama
4. Do these test in my first trimester

If you are curious as how much the tests cost here:

Triple Serum Test – RM 400

Free Cell DNA test – RM 2500 (this test is from DNA Lab from Hong Kong)