Pregnancy Story Series

Pregnancy Story: Genetic Tests – Friend or Foe?

Disclosure: I am not a medical professional or have any medical knowledge. Everything below is based on my experience, what the doctors told me and from articles read online. Please contact your medical professional for additional information.

 

After a tragic and emotional start of year 2017, I only hoped to be able to get through the entire year without losing my mind.

I had buried myself in work and taking care of my family, but some days even that was not enough. However, when we found out in October that we were having a baby, a ray of hope and fear filled my heart.

Fear because it was still very early in the pregnancy and anything could happen.

But I was hopeful!

The symptoms began soon after I found out (1 week after conception).  And they were the usual nausea, fatigue, bad morning sickness that lasted the entire pregnancy, food aversions, body aches, and bad dry skin and hair.

As the 10 weeks mark approached, the doctor asked us about genetic tests.

Genetic testing, also called the first-trimester screening, is usually done around 10-13 weeks. It tests the baby for genetic disorders such as Down Syndrome- Trisomy 21, Trisomy-13, and Trisomy-18.

I agreed to both the blood work and the ultrasound, and I was extremely anxious about the results. My doctor also ordered the ultrasound to check for neural tube defects.

The days leading up to the test were extremely difficult for me. I was more worried about the neural defects than the genetic screening.

The ultrasound was “normal” for both the genetic disorders and neural tube defects.

I use “” for normal because there are many variables, false positives, and interpretations with the results. Normal is not what it usually means. However, I will use normal instead of positives/negatives in the context when everything is fine.

Before I could breathe with ease, the doctor mentioned that the blood work was still pending.

It was the longest 2 weeks of my life!

Then my doctor called me and discussed the results with me.

The minute she said I should be sitting, my heart sank. I started crying before she could explain the results to me.

She stated that my blood work was normal for Trisomy-18, Trisomy-13 and neural tube defects. However, the baby had an elevated risk of having Down Syndrome (1 in 140 chances). The so-called normal values for women who fit my demographics should be at least 1 in 200.

It felt like my heart had stopped!

Not again!

I started weeping again.

The doctor advised that the variables only meant that the baby had a high risk of DS due to many factors, such as mother’s age, ethnicity, prior genetic problems, and the mother’s weight/health. She advised that a positive result did not indicate an abnormality, nor did a negative result indicate a clean bill of health.

I was barely listening as she explained the result in detail.

She gave me 2 choices: a NIPS test and an amniocentesis.

 

A NIPS test – Non-Invasive Prenatal Test – is performed on a blood sample from the mom to screen for the genetic disorders. The baby’s DNA floating in the mom’s blood is measured and reviewed to estimate the chances of baby having the genetic conditions.

 

An amniocentesis, on the other hand, is an invasive test where a needle is inserted into the mom’s tummy to obtain the amniotic fluid. This sample contains the baby’s cells and other chemicals which is used to determine if the baby has any genetic disorders. Other disorders can be detected via an amnio however in my case, the doctor was mostly concerned with Down Syndrome results. The accuracy level is usually 99%.

 

I decided to do the NIPS test first.

The results came back “normal” however, all the Googling still freaked me out.

Looking up things online is the worst possible thing you can do especially when you are pregnant. It adds to your stress, and half the information on forums are not even correct, or they do not pertain to you based on several factors.

I was still worried about the baby. I looked up everything I could on Down syndrome and how it could “cause” the baby to have other health issues, and this worried me to the max. The degree of DS also mattered. In some cases the baby/children are affected only a little with minor to no severe health issues, while other times, it could be on the extreme end of the spectrum.

Was I willing to gamble this?

After several days to a week of thinking about the pros and cons, my husband and I decided to do an amnio.

This procedure also carried some risks, especially a risk of miscarriage.

But I wanted to ensure that my baby was healthy and not subdue him/her to a life in the hospital. And, if doing the amnio could give me a more accurate result, it was the risk I had to take.

This decision is controversial and many parents may not agree with my choices. I also realize that I may be exaggerating about the outcome. But trust me, my mind was exaggerating everything. I was scared and worried all hours of the day. And I knew I would not survive the next 20 weeks of this pregnancy not knowing.

Amniocentesis test is scarier in theory than in reality.

The doctor used an ultrasound machine to see my insides and then carefully drew the amniotic fluids out. When the needle went in (and it was a big needle), I felt a heavy sting and an extremely uncomfortable feeling inside my belly. I remember my husband wiping a tear that trickled down the side of my face as I clenched his hand tightly.

The procedure was over in minutes and I made it out alive, for the most part.

The wait for the result is the killer.

Thankfully, I did not get any side effects from the procedure such as bleeding or leaking of fluids. I had minor cramping which was to be expected.

It took about a week or so to get an answer and I was so glad that everything was normal!

I cried so much that day but for the first time in this pregnancy, they were tears of joy.

My husband was happy, but he said he would jump around for joy the day he holds his baby in his arms! I don’t blame him for being skeptical after all that had happened.

I know that many families have it worse and I honestly do not know how they handle the pain of it all. The loss of a child, the feeling that you may lose a child, or just any danger coming upon your child or family is frightening and excruciating. You feel helpless, succumbed to the medical tests, half of which fail to give you a peace of mind.

In my case, the peace of mind came with the amnio results.

When we finished all the testing, blood work, and getting the results, I was 5 months pregnant (20 weeks).

I spent half of my pregnancy in terror and doubt about the safety of my baby. It is very hard to stay positive when you are scared.

I prayed so much, cried even harder, and worried a lot.

But I am glad everything turned out fine.

My precious little gift was born 3 weeks ago. I still cry thinking about everything we went through. Nevertheless, I feel so blessed that she gave me an opportunity to be her mother! ♥

 

Hi! I am Ashna. I am a working mom of 2 little girls, and I love organizing, writing and learning new ways to balance work and family life. If you like what you read, please do comment and share 🙂 !

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