Tuesday, February 13, 2018 8:00 AM | Anonymous member (Administrator)
We were told our daughter had a 1 percent chance of surviving. 

The news came when she was 13 weeks in utero - the time when women normally get to sigh with relief that the most risky part of their pregnancy has passed. Nausea and fatigue are lifting, the honeymoon trimester has arrived, and it's okay to start spreading the word about the little, growing miracle.

I was told the results after getting a noninvasive prenatal exam called MaterniT21, which tests for genetic disorders. The test is 99 percent accurate for things like Down Syndrome, according to my genetic counselor. 

What my baby tested positive for was Turner Syndrome, or Monosomy X. It's a condition that happens when one of the sex chromosomes is missing, or partially missing. It affects only females, and can cause a slew of problems including abnormal kidneys, heart defects, failure of the ovaries to develop, and shortened height. Most pregnancies end in miscarriages. 

I went in a few days later to get a chorionic villus sampling, or CVS, to verify the results. While the noninvasive tests can only give the likelihood of a baby having certain conditions, a CVS will confirm with 100 percent certainty whether they have a genetic disorder. (I was warned when I made my appointment, however, that sometimes there is still a small chance that they will not be able to give a clear answer based on the results.) 

However, my baby measured too big for the test, and I had to reschedule for an amniocentesis. The doctor said the chance of having a miscarriage was greater if the baby was too large. He advised against proceeding unless I had already made up my mind to terminate the pregnancy if there was any chance of the baby having Turner Syndrome.

I had to wait three more weeks for the appointment. I felt like a time bomb, wondering if I was going to have a miscarriage at every moment. I was frozen with grief, numbly going through the motions of taking care of my toddlers as happily as I could pretend to be. I piled on layers of clothing trying to disguise my bump, not wanting to talk to anyone about it. I lost a baby last February, and the fragility of creating life was still raw in my mind. 

At 16 weeks, I got the amniocentesis, which tests the baby's own genetic material from the amniotic fluid. My mom had flown down from Oregon to accompany me to the CVS test; yet I went alone this time since my husband was working. My nerves got the best of me and I didn't sleep the night before, and had only a few bites of cereal hours before the test. After it was over, I went shopping, even though you are supposed to only rest--a suggestion in retrospect that I should have obviously taken more seriously. I ended up being taken to the emergency room in an ambulance after nearly fainting at Nordstrom Rack.

It wasn't the relaxing afternoon I had envisioned, but several days later, I thankfully received the news that my baby was healthy and the test was negative for Turner Syndrome. 

With my first two children I was never offered noninvasive prenatal testing, which is a blood screening that analyzes the baby's DNA. I don't regret getting the NIPT done because having knowledge is powerful; but I do think it's important to open a discussion about such tests. 

Like miscarriages, there seems to be a veil of shame or just too much sadness to deal with it openly. Women, myself included, often say how they don't realize how many people have lost babies or dealt with similar testing results and false positives, until they go through it themselves, prompting their friends to share. 

I am a private person. Yet, having experienced this, I understand how having had more information about how common false positives can be and just having a circle of support during the process can be beneficial; not just emotionally, but for other reasons, too. Many pregnancies are terminated based on results that may not be accurate. 

For the most part, my husband and I have been fortunate in having two uneventful pregnancies, resulting in healthy kids. While having number three on the way stirred up some anxiety over the impending sleepless nights and chaos to add to our already jam-packed existences, the experience did make us remember to not take the health of our two kids or this little one for granted. Ever. Life is oh so fragile. 

Baby girl is due May 6.

-Ananda Paulas

 Ananda has a 4-year-old, a 2-year-old, and one bun in the oven. She is a European-trained photographer. Shooting weddings has taken her to Costa Rica, the Bahamas, multiple states across the U.S., and all over California. Pre-kids, she felt most alive riding rickshaws through monsoons in India, paragliding over the sea in Malaysia, diving into the Mediterranean, accidentally ending up on a Uruguayan freeway in a golf cart, being chased by a monkey in Costa Rica, or eating Toblerone atop a Swiss mountain.

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