April marks two years since Austin and I lost our third child at 22-weeks gestation. It’s hard to believe two years have passed; the pain can feel as fresh as yesterday but it can also feel like I’ve carried the weight of it for decades.
My love for our baby is not complex; it is pure and unending. But my comprehension of and reflection on what happened is VERY complex, and I’m not certain I will ever make sense of it all in my lifetime. I do know that I’ve been changed by his existence in many important and wonderful ways. His life and death brought me to know God, to literally hear Him speak to me, as I never expected I would. If you know me, ask me about it some time.
These and many, many, more thoughts are with me every day, but I share them now because I believe God gave me my son for a purpose – both to shape my life in many large and small ways but also to influence the lives of others. For that reason, I feel compelled to share how my experience has shaped my thoughts on the importance of first trimester prenatal testing.
WHEN THINGS WENT WRONG
Our baby, a boy, had a non-hereditary, chromosome disorder called Trisomy 18, in which three copies of the 18th chromosome are present. It occurs in 1 in 2,500 pregnancies. The abnormality caused countless malformations of the body, including missing and abnormal organs, bones and limbs. The results were fatal, as is almost always the case with this syndrome and especially for boys.
For the 5 months prior to our 20-week ultrasound, we had envisioned and loved a child we thought would now be nearing his second birthday, toddling around, learning new words, being played with, snuggled, kissed and hugged a million times each day. In reality, from the moment of his conception, that life we envisioned for him could never have been. But once imagined, it was impossible to un-imagine. As I recently told Austin, you can’t change where your heart has been.
When I was pregnant the first time around with my oldest daughter, Eloise, I was young, 25, with no family history of birth defects or chromosomal abnormalities. My risk level couldn’t have been much lower.
When offered prenatal testing, I declined and told my doctor, as many women do, that if I were to learn our child had Down syndrome, we wouldn’t choose to do anything differently. More specifically, we did not intend to abort a baby who had Down syndrome.
We went through a scare at our 20-week ultrasound when they discovered Eloise had a single umbilical artery. Umbilical cords should have two arteries and one vein, but a missing artery occurs in about 1 percent of babies and a percentage of those occurrences has been linked to structural anomalies and chromosomal disorders such as Trisomies 21 (Down syndrome) and 18. Subsequent ultrasounds reassured us there was no cause for concern, and Eloise was born healthy.
Similarly, I did not undergo testing for my second daughter, Charlotte’s, pregnancy, and she was born without issue.
When we conceived a third time, I was still in my late-20s and still blissfully naïve. No testing necessary.
But then, the world fell apart at our 20-week ultrasound. Our 4- and 2-year-old daughters were in the room with us, excited to learn if they’d have a new baby brother or sister. Our families were planning to meet us at a restaurant afterward for the big gender reveal. Half-made whoopee pies were sitting in the fridge at home, waiting to be filled with pink or blue-colored icing. Then, the ultrasound technician told us something was wrong and that we’d have to talk to the doctor. And at that moment, here’s what I learned:
Those bad things you feel silly worrying about? Chromosomal disorders and birth defects? They happen every day, there are statistics for a reason, and there’s no reason they can’t happen to you.
I had been reluctant to acknowledge or act on my fears. It was almost as if I superstitiously thought that by choosing not to do prenatal testing my pseudo-confidence would somehow keep those scary things at bay. I also feared that if I said “yes” to testing, it might give people – my doctor, in particular – the impression that I wouldn’t accept a child with Down syndrome.
THE BENEFITS OF FIRST-TRIMESTER TESTING
What hadn’t sunk in for me until then, and what I learned on our long and painful journey, is that prenatal tests aren’t just about Down syndrome. They also test for other, more severe, often fatal disorders. And opting to participate in prenatal testing shouldn’t be associated with any sort of stigma or shame. It doesn’t necessarily mean a parent intends to end a pregnancy in which an abnormality is detected. Instead, prenatal testing allows parents to prepare themselves as fully as possible for whatever the pregnancy might bring.
In many cases, prenatal testing will result in a pregnancy with significantly reduced stress levels thanks to clean test results. (Maternal stress has been shown to increase the risks of miscarriage and negatively affect a baby’s development.)
It might mean making plans to deliver at a hospital with a skilled neonatal team that’s prepared to treat complicated health issues that have been identified, possibly saving the baby’s life.
In the case of a Down syndrome diagnosis, in-utero therapies are beginning to be implemented to foster optimal brain development before birth.
On the other hand, it might mean preparing for the loss of the pregnancy because of a fatal disorder or defect, but beginning that process months earlier than we were able to.
Most importantly, if genetic testing reveals an abnormality, the information enables parents to prepare emotionally as early as possible, adjusting their expectations, evaluating how they plan to share the news with their other children or friends and family, making plans for how or whether to proceed with the pregnancy and seeking the best medical, psychological and spiritual help possible.
What would it have meant for me? Surely I would be living in an alternate universe.
I would not choose to change where life has taken me in the wake of our loss. However, I wish I could have spared my daughters the confusion and uncertainty of that time in our lives—being ushered out of the ultrasound room, watching their mother disappear into the darkness of grief, having their lives turned upside down when we immediately moved in with my parents, struggling to understand the explanation that our baby was too sick to live with us and that God needed to take care of him instead.
THE BARAGE OF PRENATAL TESTING OPTIONS
When I was pregnant with Flora, our now-7-month-old, I could no longer let my naivety lead me blindly, hoping for the best, assuming lightning wouldn’t strike twice. I’d lived through hell and barely climbed my way out; things were going to be different this time around.
Thankfully, I had the guidance of skilled perinatologists who thoroughly explained the various testing options available. (The American Pregnancy Association offers a good overview here.) Doctors now recommend that all women be screened for Down syndrome and other trisomy disorders. But this information, when presented in the doctor’s office in the early stages of your pregnancy, can be overwhelming. And when you think you have nothing to fear, it’s easier to just tune it all out and choose not to participate.
- The maternal blood tests most widely used in the first two trimesters are not “diagnostic,” meaning they cannot tell parents definitively if their baby has an abnormality or not. Instead, they measure hormone levels in the mother’s blood, combine those with ultrasound and information about the mother (including age and ethnicity) to offer an estimate of the baby’s risk for abnormalities. Both false positives and false negatives can and do occur. When an abnormality seems likely, a diagnostic test becomes necessary. In the case of false positives, the parents are subjected to unnecessary emotional stress and the baby is subjected to the risks that accompany invasive testing.
- Diagnostic tests for chromosomal disorders and genetic abnormalities include chorionic villus sampling (CVS), which tests tissue from the placenta, and amniocentesis, which tests the genetic material in the amniotic fluid. CVS is available between 10 and 12 weeks, allowing earlier results, but does not test for neural tube defects. Amniocentisis is usually performed later, between 15 and 20 weeks, and does test for neural tube defects. Both procedures report abnormalities with 98-99 percent accuracy. However, both procedures also carry the risk of miscarriage. For CVS, the risk has been reported at 1 in 100 procedures resulting in miscarriage. For amniocentesis, the risk ranges from 1 in 200 to 1 in 400 procedures resulting in miscarriage.
It would seem there are no good options. But miraculously, my fourth pregnancy perfectly coincided with a major breakthrough in prenatal testing: cell-free fetal DNA testing.
WHY WE CHOSE CELL-FREE FETAL DNA TESTING
Using a basic blood sample drawn from the mother as early as 10 weeks gestation, a testing lab is able to sift out cell-free fetal DNA present in the mother’s blood. This fetal DNA gets into the mother’s bloodstream when cells from the placenta die and come apart, releasing genetic material that’s absorbed by the mother’s blood stream. The test is able to isolate this genetic material and examine it to determine if there are abnormal numbers of chromosomes, specifically Chromosomes 21, 18 and 13 and the X and Y sex chromosomes.
Cell-free fetal DNA was discovered in 1996, and the first genetic testing based on the technology was offered in 2011. In late 2012, the American Congress of Obstetricians and Gynecologists recommended the test for patients at an increased risk for chromosomal defects, but many OB/GYN’s have never heard about the test. Mine hadn’t.
However, we now have a history that includes a pregnancy with chromosomal abnormalities. My OB/GYN directed me to the Perinatology Center of Iowa where we were offered a cell-free fetal DNA test, under the brand name Verifi, as an alternative to CVS during the first trimester of my pregnancy.
At first glance, I assumed the test was no different than the traditional first trimester maternal blood screening, in which I would receive results that outlined the baby’s relative risks for various disorders. Those tests did not offer the certainty I needed, nor could I imagine surviving the possibility of a false positive after what we had already been through. However, I also knew I could not proceed with my pregnancy uninformed only to find out later that the baby could have something drastically wrong, however slim the chance.
We agonized over the choices but were enlightened when we did more research on the Verifi testing option. We discovered that the test detects greater than 99.9 percent of all cases of Down syndrome, more than 98 percent of all Trisomy 18 pregnancies and about 65 percent of Trisomy 13 pregnancies.
Equally important is the incredibly low rate of false positive results. A study published in the New England Journal of Medicine in late February 2014 made a head-to-head comparison of cell-free fetal DNA tests and standard screening methods. Cell-free fetal DNA tests were found to have a false positive rate of 0.45 percent while standard testing resulted in false positives 4.2 percent of the time.
With this information in hand, we felt confident relying on the Verifi test to provide us with the best, most accurate, information possible about the health of our baby. My blood was sent away last March and, 10 days later, we were called with clean results. Because we had opted to test for sex-linked chromosomal disorders as well, we had the added benefit of learning the baby’s gender. We were expecting our third girl.
WHY ALL WOMEN SHOULD CONSIDER FIRST TRIMESTER PRENATAL TESTING
When I look back on April of 2012, I remember how alone I felt. I couldn’t imagine that anyone, especially not anyone I knew, could have suffered in the unique ways we had. But one of the blessings and sadnesses of enduring this pain is learning just how much company we have. Countless people sought us out – neighbors, friends of friends, people we’ve known for ages – they sent us messages, called us, to tell us that they, too, endured something similar and that they had survived.
According to the March of Dimes, 1 in 150 babies are born with a chromosomal disorder and 1 in 33 are born with some sort of birth defect. How many women do you know, and how many pregnancies will they have between them? It starts to feel much closer to home.
I don’t intend to incite fear. Being pregnant is joyous and beautiful and exciting, and you have every right to expect that your baby will be the picture of perfection. But you know the old adage “hope for the best and prepare for the worst?” I know just how devastating it can be when all you do is hope because you’re afraid of the worst.
Think about it this way: The average person is expected to be in a car accident every 17.9 years, but hopefully you wear your seat belt every time you’re in the car. Buckling up doesn’t mean you’re afraid you’ll crash that day; it’s just the smart thing to do.
First trimester prenatal testing is the smart thing to do, ESPECIALLY if you would continue a pregnancy with a chromosomal abnormality or other birth defect. Most issues will be caught in a 20-week ultrasound, but, in my experience, finding out this far into the pregnancy causes emotional trauma that should be avoided at all costs. (For the perspective of another mother who chose cell-free fetal DNA testing, read “Why I Wish I Had Chosen Prenatal Testing,” a moving essay written by Patti Rice, the mother of 11 whose 10th child was born unexpectedly with Down syndrome.)
If you are pregnant, planning to become pregnant or know someone who is, I strongly urge you to ask your doctor about a cell-free fetal DNA test. Doctors who are aware of the test are recommending it as an option for those who are of advanced maternal age, have irregular standard maternal blood screenings, have irregular ultrasound findings or have a personal or family history of chromosomal disorders. However, ANYONE can request the testing. If your doctor isn’t familiar with it, don’t be afraid to ask them to look into it. It’s available in all 50 states. Just three insurance companies cover it (Aetna, Cigna and United Healthcare), but in our case, the testing company reduced our personal cost to under $200 when it wasn’t covered by our insurance.
I believe that this sort of testing will quickly become the standard of care, but in these early stages, I want to share what I’ve learned with as many people as possible. I can only hope that learning about cell-free fetal DNA testing will save one person from suffering the way we did. Or maybe it will keep someone from unnecessarily undergoing a more risky, invasive test like CVS or amniocentesis.
If you do choose to do prenatal testing, please tell people. Hopefully sharing your decision with others will help reshape how we look at prenatal testing, transforming it into something that’s viewed as one of the most caring, responsible choices you can make for your baby, yourself and your family.