Hindsight

I'm Over 35, but Do I Really Need an Amnio?

Genetic testing has risks that some moms want to avoid

Photograph by Getty Images

I couldn’t remember the last time I had been to church, but there I sat, the Sunday before Christmas, eyes closed and head bowed.

Festive holiday season or not, my heart was troubled: In just three days, I was scheduled to meet with a geneticist to screen my unborn baby for abnormal genes and diseases.

It was something my doctor said was recommended for every woman over the age of 35, and I am 36.

At 12 weeks, I’d already had a nuchal translucency screening—a non-invasive prenatal test that assesses your baby's risk of Down Syndrome, other chromosomal abnormalities and major congenital heart problems.

It took me a full year to stop grieving over the loss I suffered at just over 6 weeks pregnant.

But since that screening doesn’t provide the highest level of risk accuracy available, I knew that if I wanted to find out—with more than 99 percent certainty—whether my baby had DS, trisomy 13, trisomy 18 or sex chromosome abnormalities such as Turner syndrome and Klinefelter syndrome, I’d probably need to go the invasive route: amniocentesis or CVS.

Amniocentesis—usually done when a woman is between 16 and 22 weeks pregnant—allows your practitioner to gather information about your baby's health from a sample of your amniotic fluid.

RELATED: Prenatal Tests and Doctor Visits 101

The procedure is similar to that of CVS, or chorionic villus sampling, which also detects chromosomal abnormalities. Normally performed between 11 and 13 weeks, the test involves a practitioner taking cells from minuscule finger-like projections on the placenta called the chorionic villi to evaluate.

But both CVS and amniocentesis carry a small risk of miscarriage: For amniocentesis, it’s between 1 in 300 and 1 in 500; for CVS, it's an overall 1 in 100 risk, according to the Mayo Clinic.

And for someone who experienced a miscarriage less than two years ago, even the slightest chance my beloved baby would not make it was not something I could take lightly.

It took me a full year to stop grieving over the loss I suffered at just over 6 weeks pregnant: Every night for a month afterward, I sat and cried for the child that would never be.

I slipped into a depression that did not go away until I convinced myself that this was, very possibly, just a one-time tragedy, and that I wasn’t doomed to be childless for the rest of my life.

Still, the fear of being that 1 in 100, 200, 300, 400 or 500 was not easy to shake the second time around. I laid awake at night for days before my appointment, mentally weighing the pros and cons. Problem was, there seemed to be only one pro—to know the status of my child’s health—and one major con—to never know my child at all.

And so I sat in that Baptist church and prayed for the courage to make a decision—to either take a test or roll the dice and play whatever card I was given.

While doing some online research, I found an article that mentioned new non-invasive prenatal tests that can detect certain genetic conditions by analyzing fragments of fetal DNA inside a pregnant woman's blood.

Since I wasn’t sure if the tests had been approved or were even offered by my hospital, I had all but forgotten about them by the time I went to my appointment.

This explains my shock, relief and unadulterated glee when my geneticist offered me one.

A simple, painless, less-than-30-second blood withdrawal, and I was on my way.

Two weeks later, I got the call I’d been waiting for—the one with the results of my non-invasive prenatal test.

Not only had the nuchal translucency screening ruled that I have a less than 1 in 1,150 chance of having a child with Down syndrome, trisomy 13 or trisomy 18, the new prenatal test also put my odds even lower.

I will never know if I would have gone through with the amniocentesis or CVS. Truthfully, I still hadn’t made up my mind by the time I’d gotten to the waiting room—but boy, am I glad I didn’t have to.

Fifteen weeks into my journey, and I’ve never been happier or more optimistic about what’s to come.

MORE: Mom's the Word

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