My story about Trisomy 13 result of NIPT
To all the ladies out there who are patiently waiting for your CVS/amnio reports and freaking out about the outcome, I would like to share my story to (perhaps) give you some hope and support.
I'm 32 years old (just like the original poster of this thread ). I'm pregnant with our first child which we tried to conceive for nearly 3 years! We were so excited to learn about this pregnancy but tried our best to keep our expectations to the minimum, knowing that 10000 things can go wrong. I was very worried about ectopic pregnancy, then I was absolutely terrified of miscarriage but when we saw the image on our 11w ultrasound, everything finally started to sink in and feel very real. We were over the moon happy and couldn't wait to share our news with our families and friends. The one thing that was left are the results of SafeT21 test (same as Harmony, Panorama and any other NIPT). We never in a wildest dream could imagine that something might not be okay.
The phone call from my obgyn came as a storm in the clear sky... She called to say that she needs to see us in her office to discuss the test results. We couldn't wait so insisted that she would tell us over the phone. The news were terrifying... The baby has high risk of Trisomy 13. We didn't even know what that means until we heard that. I was only 12 weeks pregnant so all we could do is to schedule an appointment with the genetics specialist for the next week and wait...
I'm going to spare you the details of agony that I went through during that week but I'm sure you can imagine it.
The detailed ultrasound didn't flag any abnormalities - genetics specialist could see absolutely nothing wrong with the baby. He advised me against CVS, concluding that 16 weeks amnio would be a better, more reliable option. By that time I was only 13 weeks, so another 3 dreadful weeks started... I tried my best to live the normal life - go out with my friends, travel, I even took one prenatal yoga class. I'm incredibly grateful to my friends who knew of my situation and didn't leave me alone with my thoughts for long.
At first I was absolutely terrified to hear the outcome of amnio - if results were positive, I would need to have induced labour and actually go through the whole thing without the reward of the baby by the end of it. This thought was absolutely crashing. Then came the time that I didn't thing of the results anymore but was so scared to go through the procedure ! I can't tolerate any pain so was terrified of the thought of the needle going through my belly and uterus. However, by the middle of second week of waiting, I hardly cared about the results anymore, I was ready to be poked in my belly, my uterus - wherever needed as long as it would get me out of this limbo! Not knowing what will happen next and waiting, waiting, waiting is just the worst! I refused to wear any maternity clothes, I wouldn't tell anyone that I'm pregnant, I just acted like nothing was going on.
Finally the day of the amnio came! Bravely I walked in there with my husband, held his hand and tried to calm down while he was telling me some bullshit stories about dancing animals to distract me.
Amnio is not painful at all (if your muscles are relaxed) and it only takes few minutes. Procedure definitely sounds more scary than it actually is.
And then it's more waiting.... Luckily in Hong Kong the first report comes already the next day and it takes 2 weeks for the complete one. Initial report, however, should indicate if there is Trisomy, Mosaism or it is straightforward normal.
Yesterday evening the long awaited call came. Our genetics doctor was so excited that I think I didn't even say hello yet when he already told us that the report came back straightforward NORMAL! We were over the moon happy but also in disbelief... We went from "yay we are having a baby" to "your baby has Trisomy 13 and probably won't even survive birth" to " Your baby is completely normal"! What a rollercoaster....
We still have to wait till the full report comes and praying that there are no more surprises, but we are optimistic judging by the ultrasounds and the initial amnio report. Not sure if anyone had any experience of FISH report being different..
This been a great learning for me - to never think "this only happens to other people and will never happen to me".
If I can give few advices to all strong ladies out there who are waiting and battling the same anxiety - keep busy! Try to do as many things as you can - sports, work, friends, hobbies, travel - anything to keep your mind occupied ! I wouldn't have made it through this experience without my friends... I know that for some it's a very sensitive topic that you don't want to share but I found talking about it with my friends very helpful. They were crying with me, they did their best to get my mind of things and I know if the outcome was negative, they wouldn't leave my side.
I also did prepare myself for the worst scenario. I literally visualized that phone call, giving me the most devastating news and visualized the steps that would need to be taken after. While you have to stay positive and hope for the best outcome, visualizing the worst and the steps after, made me feel prepared.
Most importantly don't loose hope. We were told that SafeT21 test has 0.02% of False Positive results, which leaves you virtually NO CHANCE for a healthy baby, but it's simply not true. NIPT will never be as accurate and amnio, so please please please don't jump into conclusions and don't make any decisions based on NIPT alone.
I hope my story can give someone much needed hope. I have my fingers crossed for all of you battling this. No woman ever deserves to go through this!
I'm here if you need to talk!
Let's Glow!
Achieve your health goals from period to parenting.