Menu

My Baby Was Misdiagnosed with Trisomy 18

What it feels like to hear your baby might have a genetic disease.

My Baby Was Misdiagnosed with Trisomy 18

“If the baby is born, she likely won’t make it to her first birthday.”

I could already feel her kicking inside me when our doctor told us the news.

It was just after our anatomy check and gender reveal appointment. The ultrasound took what seemed like forever. We were in the room for more than 45 minutes. When the sonographer told us our baby was a girl, I was so happy, I cried. I had dreamed of a little girl with dark hair and squinty eyes, just like her dad. But when the sonographer asked me if I had done the genetic screening, I knew something was wrong.

Once the doctor came in the room, there was a distinct lack of candy coating. No bushes to beat around. “Do you see these dark spots on your baby’s brain?” she asked. “Those are a distinct marker for Trisomy 18.”

She said it like I should know what Trisomy 18 was. My husband’s face turned white. He’s a physician, so he knew.

About 2,500 pregnancies in the U.S. are affected by Trisomy 18. Most of those babies don’t survive the second or third trimester. Those who do face heart defects, kidney problems, clenched hands, clubbed feet, and several developmental delays.

Just a few weeks before, my husband and I had opted out of the genetic test we were offered at the 12-week appointment with little thought. We had a quick conversation that went something like this: we’re not going to terminate no matter what, so what will be will be. We didn't even consider life-threatening abnormalities.

The next 48 hours consisted of inconsolable crying, praying, worrying, and not talking to any of our family about the possibility that we would lose this tiny baby girl we hadn’t even met yet.

My husband, who was on break from his department at the same hospital, went back to work. I got my blood drawn for a quad screen test, which would let us know for sure about Trisomy 18, and somehow ended up in bed, though I barely remember seeing the road on my 20-minute drive home.

It took the longest two days to hear back about the screening results. And while waiting, at home, I did my own research.

I learned there are a small number of T18 babies that are able to survive into their twenties and thirties, though developmental delays mean they need constant caregiving. I’ve since learned a friend’s brother, in his early twenties, was born with Trisomy 18. He’s happy, has a job and more Facebook friends than I do.

On day two of waiting, I emailed the doctor first thing in the morning. Nothing. By the end of the day, I called her office.

The quad screen came back, and it was good news. No indication that my baby was likely to have Trisomy 18 or any other chromosomal abnormalities. In fact, the doctor said, it was likely that the baby’s brain hadn’t fully developed and those “dark spots” were just places where the brain wasn’t mature.

It turned out they had scheduled my 20-week sonogram at 17 weeks, and I just showed up when I was told to. Had I known that coming in early would mean I was going to be told my baby could die and that I would spend the next two days in a tear-induced fog, I would have demanded to come in at 20 weeks or later. And I may have even opted for the genetic tests.

According to the American Pregnancy Association, women who have a family history of birth defects, are over the age of 35, have diabetes, use harmful medications, have had a viral infection during pregnancy, or have been exposed to high levels of radiation should take the test. None of those applied to me and likely won’t during my next pregnancy, but the test is easy and could save days and hours of agony. So with clear 20/20 hindsight, my husband and I will do the quad screen test in future pregnancies.

The test determines your likelihood of giving birth to a baby with Trisomy 21 (down's syndrome), Trisomy 18 (Edward’s syndrome) or any other chromosomal abnormality. It also helps you plan ahead for the future. The APA says this test is essential in helping parents of children with chromosomal abnormalities find potential interventions to help their babies, like fetal surgery for spina bifida. It also gives them the time they need to plan for a child with special needs, find a support group and address lifestyle changes. The quad screen also gives parents the opportunity to decide if carrying a child with such abnormalities to term is right for them.

The case for the quad screen is simple: it doesn’t hurt mom or baby; and whether you choose to learn the gender of your baby or not, you will find out if there are any physical markers for chromosomal abnormalities at your anatomy scan sonogram. Doctors need to know so they can be prepared; you need to know so you can be prepared. If for some reason, your sonographer finds a physical marker for a fatal abnormality, you’ll want to have those quad screen results in your back pocket.

And for parents who are just learning their baby suffers one of these abnormalities, there are so many support groups online and likely in your area. Check out trisomy18.org, trisomy.org or trisomy18support.org. Connect with other parents in similar situations and find a friend to take you to coffee who will empathize, support and be there for you.

I’m now nearing the end of my pregnancy, and I return to the sonographer every 3-4 weeks to rescan the baby’s brain. By week 21 though, her sweet little brain was perfect. I can’t wait to fill it with Otis Redding and all the names we call our golden retriever and, when she’s old enough, with J.D. Salinger short stories.

Photography by Hannah Leigh Photography.

Rarely is a woman more concerned with what her body needs than when she's pregnant. We start to question and research everything, right? From swearing off turkey sandwiches to diving down the rabbit hole of prenatal supplements that make up what we lack, the stress of overthinking is real, mama.

One of the main reasons we launched the Motherly Shop is to help take some of that stress away. We've tracked down the best brands and products developed by people (and in many cases, women!) that truly work to serve the needs of real mamas, especially throughout the overwhelming transition into motherhood.

That's why we knew we had to introduce mamas-to-be to the science-backed and expertly-formulated protein collagen for pregnancy from Needed. And as one of our bestsellers, it's clear you've been looking for it, too.

Keep reading Show less
Shop

Motherly editors’ 7 favorite hacks for organizing their diaper bags

Make frantically fishing around for a diaper a thing of the past!

As any parent knows, the term "diaper bag" only scratches the surface. In reality, this catchall holds so much more: a change of clothes, bottles, snacks, wipes and probably about a dozen more essential items.

Which makes finding the exact item you need, when you need it (read: A diaper when you're in public with a blowout on your hands) kind of tricky.

That's why organization is the name of the game when it comes to outings with your littles. We pooled the Motherly team of editors to learn some favorite hacks for organizing diaper bags. Here are our top tips.

1. Divide and conquer with small bags

Here's a tip we heard more than a few times: Use smaller storage bags to organize your stuff. Not only is this helpful for keeping related items together, but it can also help keep things from floating around in the expanse of the larger diaper bag. These bags don't have to be anything particularly fancy: an unused toiletry bag, pencil case or even plastic baggies will work.

2. Have an emergency changing kit

When you're dealing with a diaper blowout situation, it's not the time to go searching for a pack of wipes. Instead, assemble an emergency changing kit ahead of time by bundling a change of baby clothes, a fresh diaper, plenty of wipes and hand sanitizer in a bag you can quickly grab. We're partial to pop-top wipes that don't dry out or get dirty inside the diaper bag.

3. Simplify bottle prep

Organization isn't just being able to find what you need, but also having what you need. For formula-feeding on the go, keep an extra bottle with the formula you need measured out along with water to mix it up. You never know when your outing will take longer than expected—especially with a baby in the mix!

4. Get resealable snacks

When getting out with toddlers and older kids, snacks are the key to success. Still, it isn't fun to constantly dig crumbs out of the bottom of your diaper bag. Our editors love pouches with resealable caps and snacks that come in their own sealable containers. Travel-sized snacks like freeze-dried fruit crisps or meal-ready pouches can get an unfair reputation for being more expensive, but that isn't the case with the budget-friendly Comforts line.

5. Keep a carabiner on your keychain

You'll think a lot about what your child needs for an outing, but you can't forget this must-have: your keys. Add a carabiner to your keychain so you can hook them onto a loop inside your diaper bag. Trust us when we say it's a much better option than dumping out the bag's contents on your front step to find your house key!

6. Bundle your essentials

If your diaper bag doubles as your purse (and we bet it does) you're going to want easy access to your essentials, too. Dedicate a smaller storage bag of your diaper bag to items like your phone, wallet and lip balm. Then, when you're ready to transfer your items to a real purse, you don't have to look for them individually.

7. Keep wipes in an outer compartment

Baby wipes aren't just for diaper changes: They're also great for cleaning up messy faces, wiping off smudges, touching up your makeup and more. Since you'll be reaching for them time and time again, keep a container of sensitive baby wipes in an easily accessible outer compartment of your bag.

Another great tip? Shop the Comforts line on www.comfortsforbaby.com to find premium baby products for a fraction of competitors' prices. Or, follow @comfortsforbaby for more information!

This article was sponsored by The Kroger Co. Thank you for supporting the brands that supporting Motherly and mamas.

Our Partners

Talking to kids can come so easily. They have thoughts about everything and stories for miles. They see the world in a completely different light, and could ask enough questions to fill an afternoon.

But sometimes finding the right words for talking to kids can be really, really challenging. When choosing how to respond to the marker on the wall, or the seemingly unending why-can't-I battle, or in simply keeping healthy communication open with kids who don't want to talk, the words don't seem to come so easily.

Keep reading Show less
Learn + Play