So I write this with a heavy heart that trisomy 16 is something that you’ve got to watch out for despite what comes in your double marker test. Every woman who plans a pregnancy must be aware about the things that are going around in the post-pregnancy world. What I tell you today is not something that you will find on the internet that easy because when I look back to the day, I realize that more than a genetic issue, this was a medical error. Up until a few months back, I wasn’t even ready to talk about this, however I am still in tears when I write this.

Losing a Child to Trisomy 16 is the Worst!

“The year after Covid-19 outbreak, when the world had started to settle down, me and my husband decided to bring a new member to our family. Within a couple of months, we got the news that we were pregnant. Happy as any couple would be, we started planning for our upcoming future. On time visits to the gynecologist, healthy diet, exercise everything was just going on right. We thought we had planned everything right, that we had the best doctor, medical support around to help us get through. Little did we know that god and the medical world had something else planned for us. In the 3rd month of my pregnancy, we decided to switch to a better doctor. We went ahead and it was suggested to get a double marker test done. Uptil not, our previous gynecologist had never mentioned anything about this. But that was alright because this new one suggested that despite the delay, we still had time to get this done.

We got the double marker test done in no time. However, the results of this test were declared a little later than expected.”

For those who don’t know what is a double marker test, I am explaining it below:

What Is A Double Marker Test?

Basically a double marker test is a prenatal screening test which is done during the first trimester of pregnancy. This test helps in assessing risk of chromosomal abnormalities that could be developing in the fetus. The primary areas that the test focuses on are Patau syndrome(Trisomy 13), Down syndrome (Trisomy 21) and Edwards syndrome (Trisomy 18) (Honestly I had no idea what these were). Anyways, this test screens two specific markers in the mother’s blood (I was told about this during that period):

1. Free Beta-hCG (human chorionic gonadotropin) – This is a hormone that is developed inside a woman during pregnancy. Abnormally high levels in the test result may indicate a higher risk of Down syndrome.
2. PAPP-A (Pregnancy-associated plasma protein-A) – Now, this one is a protein produced by the placenta in the womb. If a woman has low levels of PAPP-A, it is indicative that there could be complications or chromosomal abnormalities in the fetal.

Double marker test results are then combined with other factors, such as maternal age and a nuchal translucency (NT) ultrasound scan in order to understand the probability. However, we were told that this test does not indicate anything constructive rather it only indicates the probability, and that further tests will be required, like amniocentesis or chorionic villus sampling (CVS), to check if the risk is high.

Now, let’s come back to my story.

“This test came with a value of 1:50 in my case. We were told that this indicates that my child has a relatively high risk of having a chromosomal abnormality, such as Down syndrome (Trisomy 21) or Edwards syndrome (Trisomy 18). This basically means that there is a 1 in 50 chance that my baby will be affected. The value is considered as a higher risk in the genetics world.

Doctors, in such cases, recommend further diagnostic tests (which are quite expensive I must say) to confirm if the baby has a chromosomal abnormality because the double marker test was just a screening tool. So we were suggested follow-up tests:

1. Non-Invasive Prenatal Testing (NIPT)

This was not recommended in my case, since I had already crossed the period during which this test can be performed.

2. Amniocentesis

This too was not possible. So we were recommended to go for:

3. Chorionic Villus Sampling (CVS)

• CVS is a process where the expert takes a small sample of the placental tissue which contains the same genetic material as the fetus. So, this test was performed to diagnose the chromosomal abnormalities (primarily Trisomy 13, Trisomy 18 & Trisomy 21).
• This was performed in the 13th week of my pregnancy. This can be performed anywhere between 10 to 13 weeks.
• CVS is considered to be highly accurate, as told by our doctor. However, it comes with a slightly higher risk of miscarriage.

So we were told not to leave the bed after at least 5 days of this test and my husband followed it like crazy. I was allowed to just go to the washroom and everything else was served to me on my bed.

Highly pampered by my husband, the days went by in no time, praying night and day to the supreme power to be kind to us and just get the results in our favor.

Now here comes the catch which you are reading this article for. Our gynecologist assured us that most assured results of the CVS test will be declared within 3 days in the FISH Test result. By this time I had entered my 4th month of pregnancy and we were just desperately waiting for the result. I still remember chanting mantras playing on my phone all day long (including the mahamrityunjay jaap and what not).” For those who don’t know what is a FISH test, I’ve explained it below:

What is the FISH Test (Preliminary Results)?

• The FISH test is performed on samples taken during the procedures like chorionic villus sampling (CVS), or amniocentesis.
• This test looks for all the major chromosomal abnormalities, particularly involving chromosomes 13, 18, 21. (Our doctor was sure that it would be either something from these 3 or nothing at all).
• We were told that the result focuses on detecting conditions like:
  • Down syndrome (Trisomy 21)
  • Edwards syndrome (Trisomy 18)
  • Patau syndrome (Trisomy 13)

“So we got the preliminary results within 3 days and the test was clear. I still remember the evening time, me and my husband were praying while waiting for the results and the moment it flashed on our phones, we had the biggest smiles on our faces and tears in our eyes. Because we were assured that we don’t need to be worried about anything else.

Anyways we totally forgot about the full karyotype analysis and started living our lives normally, planning where the crib will fit it. The results for the full karyotype analysis were awaited in the 4th week from now which means I will be in my 5th month. Yet, we were confident that we had crossed the bad time.

But something stuck up my throat as soon as the result week started. I still cannot explain the feeling but there was something that alerted me, everytime my phone rang, a bell or a message.

And here it was!

In my 5th month (4th week from the FISH test), the lab people called and asked us to rush to the doctor immediately. I still remember this guy’s voice who told us that our Final Karyotype Analysis was here and it was bad.”

What Is Final Karyotype Analysis (Results After 4 Weeks)?

A complete karyotype analysis is performed on the same sample and it takes around 2 to 4 weeks to provide a complete genetic analysis.

“I’ll be honest, we were told that this test will examine all the chromosomes in detail to check complete abnormalities but with somewhat more conviction and less dependency on the FISH test results.

My doctor gave me all the hopes and positives in the world when she told me that I have nothing to worry because the FISH test came right.

Later we got to know that the final result rules out everything done before.

Unlike FISH, the Karyotype provides a complete examination of the entire genetic makeup, identifying any smaller, less common anomalies that could affect the baby. And in our case, it was Trisomy 16.”

What Is Trisomy 16?

Trisomy 16 is a rare genetic disorder in which three copies of chromosome 16 exist, instead of two normal ones. Chromosome 16 is among the 23 pairs of chromosomes found in humans, and an additional copy leads to significant developmental issues.

“We were told that trisomy 16 is among the common chromosomal abnormalities that are seen in early miscarriages. In fact, this is a reason behind many early stage miscarriages.

We were told that trisomy 16 is the rarest of the abnormalities ever found uptill then and we were suggested to get the abortion done immediately.

Doctor’s prescription suggesting abortion.

Post delivery, the genetics team (with our consent) performed more tests on our little boy to know if they can find a solution and save future parents from the suffering, pain and trauma.

Even till today, the day, December 2021, haunts me. Every time I get this memory, my eyes are filled with tears rolling down (even right now). I know I am still dealing with that trauma and it just kills me from inside but this is one thing that I cannot leave behind.

This picture was taken by my husband the night before the news.

So my advice to my friends, please be aware of everything around you and take necessary actions every time it’s possible. Better safe than sorry. Have hope and live long.