Prenatal Testing Offers Pregnant Women More Information Than Ever — But No Support To Deal With It

I expected prenatal testing to give me the “all clear” on my pregnancy; I was not prepared for the murky answers to the questions I had asked.

I’m nearly a year postpartum when I mention to my therapist that, for a while during my pregnancy, I expected it to end in termination. I said it casually, as part of explaining something else. Those 10 bleak, frozen weeks are, to me, an asterisk now. My therapist stopped me. “You grieved,” she said.

“But everything was fine,” I almost argue. Before I can, she repeats “you grieved,” and then the dreaded “how does that make you feel?” Heavy tears gush, as those agonizing weeks come rushing to the surface.

I remember sitting in my obstetrician’s office after my 12-week ultrasound. Even behind a mask, I could see her face fall as she looked over the results. “This is not good news. It’s not what we want to see,” she said, as I sat there, stunned. My first pregnancy had been easy and uneventful, and left me with nothing but a beautiful, big, healthy boy. I’d expected the same.

It was January of 2021, so I was in her office alone. I called my husband and he listened over speakerphone as the OB told us that a “suspected cystic hygroma” — a mysterious blob the perinatologist who looked at the images had seen — was very bad news. “These babies don’t usually live,” she said. It could mean a number of things, but none of them pointed to a pregnancy that would result in a healthy baby.

I’d have to wait a week to get the chorionic villus sampling (CVS) test, the next step toward more information about the mysterious blob on my ultrasound. It was the first Covid winter, and the days ran together in their slow similarity. My toddler and I passed the day with cars and Magna-Tiles, the immediacy of his needs a welcome distraction. But after he was asleep, I had nothing to do but curl up on the couch and sob.

Every question my situation stirred up is stigmatized, politicized, agonizing: Will I abort this baby? Can I raise a child with a genetic difference? It’s understandable that no one talks about experiences like mine, but the sense of secrecy around it compounds the hardship.

Showers were the worst. Alone with my body, its bulging breasts and sweet belly suddenly all treacherous and macabre. “This will not end well” ringing in my head, I’d cup my stomach in the shower with tears and water rushing together over me: “I’m so sorry,” I said to the blob.

We are introduced to a genetic counselor, and she guides us from result to result. The CVS test is much like an amniocentesis, but it takes placental tissue instead of amniotic fluid. The results come in waves. First, within a few days, comes the interphase fluorescent in situ hybridization (FISH) test, which looks at five major chromosomes involved in fetal abnormality: 21 (associated with Down syndrome), 18, 13, X, and Y. If those are all clear, some of the tissue samples are sent off for a “microarray,” which examines a complete set of chromosomes for additions or deletions. Some of these extra or missing chromosomes are associated with fetal abnormalities. Some of these deletions or additions are extremely rare; not much is known about what they may or may not mean. Among the many things that are unsettling about this process — from the potential physical pain of the CVS test itself to the agony of asking yourself and your spouse what you’d do if you discovered your growing baby has Down syndrome — all of the information that we wait for and receive is delivered in the language of probability. We live in a spin cycle of questions of science, mathematics, gut, and heart, Googling syndromes we’ve never heard of and wondering which is ours.

Gray areas cloud over as we go deeper. Instead of bringing relief, every hurdle we clear — not Down, not Trisomy 18, not Noonan — lines us up for more.

A few weeks after the ultrasound that started it all, a second perinatologist tells me that she doesn’t see the cystic hygroma that set all of this in motion. After weeks of what I now understand was grief, we are as stunned by the possibility that our baby is completely fine as we were when we were told it was not viable. “We have a saying in perinatology that if you put an ultrasound image in front of five of us, you would get five different interpretations,” she explains gently.

Hope seeps in as the weeks pass, and finally at 22 weeks, we come to the final hurdle, a fetal echocardiogram. By then, we know two things: First, that anything the doctors find at this point would likely be manageable by surgery soon after birth. And we know that our baby is a girl. We walk nervously around the neighborhood as we wait for the results. An hour later, our perinatologist delivers the news that our baby is healthy and normal, with an apology for all we’d been through. After 10 excruciating weeks, a quiet apology.

I feel joyful. I feel lucky. For a long time after we get the coveted “all clear,” it’s the only way I know to feel. Obviously, I can only be grateful.

The look on my therapist’s face as she helped me process my grief long after the fact told me that this was not her first encounter with a situation like mine. How many women are blindsided by the darkness they find themselves in when a prenatal screening does not come back “all clear”? Every question my situation stirred up is stigmatized, politicized, agonizing: Will I abort this baby? When will I abort this baby? Can I raise a child with a genetic difference? It’s understandable that no one talks about experiences like mine, but the sense of secrecy around it compounds the hardship. Even after the fact, I only told very close family members about what we’d been through.

How often do women experience the whiplash I did?

“It is not uncommon,” Dr. Ilina Pluym, a maternal and fetal medicine specialist at the University of California, Los Angeles, tells me. “My job as a perinatologist is to find those 3% of pregnancies affected by birth defects and genetic defects.” Necessarily, she explains, that means casting a wide net. “More often than not, I should be giving good news.”

Perhaps it is inevitable then that many of us find ourselves, as I did, grief-stricken in an ethical wilderness.

I ask Hilary Bowman-Smart, a researcher in bioethics at the University of South Australia who has spent years thinking about the extremely thorny ethical questions surrounding prenatal testing, about what we want from prenatal tests versus what they actually tell us. I know that I blithely expected reassurance at my 12-week ultrasound, and when I didn’t get that, I felt shocked, even though I knew that many pregnancies are complicated. Prenatal testing has been a source of bioethical dilemma since the very beginning, Bowman-Smart says. The tests have introduced a sense that pregnancy is not confirmed until you've got the “all clear.” “The issue is there are so many things we can test for now that many people will not be getting the ‘all clear’ they might be expecting,” she adds.

The expansion of the available prenatal screenings and genetic testing options has been rapid in recent years, though amnio and ultrasound imaging have been used widely for decades now. Meanwhile, supportive guidance for the pregnant people who are navigating an increasingly complex testing landscape has not kept pace with the volume of information that prenatal tests now offer.

“Genetic testing options have expanded so much, and there’s a big push to get them out to the masses, oftentimes driven by the corporations that are producing these tests,” says Katie Stoll, a genetic counselor and the executive director of the Genetic Support Foundation. While some of the tests can give relatively clear information — for example, a high probability that your baby will be born with Down syndrome — many just indicate the potential for complications without offering much direction. Genetic counselors like Stoll are going to be in higher and higher demand, as these tests and their results become more complex and confusing for laypeople to glean meaning from.

That is, if there is meaning to be gleaned, which is not always the case. As with the results of the chromosomal microarray that I had, many of the possible results would have given us information without a known meaning behind it. Yes, your child has an extra chromosome, but no, we don’t know what that means.

“People are being asked to make really big, life-changing decisions based on information that is not as certain as it's being framed as — either by the way the labs are reporting it or by the way their providers are translating it,” Stoll says. Life in post-Roe America is yet another complicating factor. I live in Oregon, where there is no gestational limit on abortion, and my OB assured me at the outset that she could terminate up to 24 weeks, which gave me a sense that I could wait to learn more before making a decision. However, if I had lived in a state with more restrictive abortion access, I would not have had time to undergo the many diagnostic tests that ultimately did give us an all clear. Instead, I would have had to make a life-changing decision based on information that I knew was uncertain.

While I am grateful I had the time to complete the process without abortion restriction, the entire agonizing experience left me blindsided for months. A bioethical concept known as “routinization” may be at the heart of what nags at me about my prenatal testing experience. Just as it sounds, “routinization” in health care refers to the process by which something — like an incredibly detailed genetic screening — becomes, for better or worse, routine. Some bioethicists believe routinization can erode a patient’s ability to give informed consent. In the world of prenatal tests like the CVS or the even more common noninvasive prenatal testing (NIPT) blood draw, it’s almost impossible for most patients to truly understand the complexity and uncertainty of the results with which they may be presented. “At a certain point, it can be like ‘Do you have a couple of months and a science degree?’” says Bowman-Smart.

I can’t help but see a connection between the grief that my prenatal testing experience imposed on my pregnancy and the PPD that descended when my daughter was born. And I will always be sad I wasn’t all the way present for her first months on Earth.

And it’s not just the patients who may be confused by ever-more complex prenatal tests. Many obstetricians have limited — if any — specialized training in genetics. It’s not that they know nothing about the prenatal tests they order, but even given abundant time, they may not know enough to truly explain the implications of a comprehensive prenatal genetic screening to the average patient.

Perhaps it is inevitable then that many of us — likely a growing number — find ourselves, as I did, grief-stricken in an ethical wilderness.

Prenatal genetic screenings are a gold mine of bioethical conundrums, Stoll tells me. My experience is a perfect example of what she — and many people who work on ethics in health care — call the “gradual trap.” It goes something like this: Many of us become pregnant and hop on a train of to-dos, as laid out by our OB. In the 15 minutes allotted to us in our OB’s office, we absorb what we can, and dutifully sign up for the next round of tests and check-ins, thinking simply: “This is what I am supposed to do, so I am going to do it.”

A pregnant person checks boxes until they encounter — as I did — a box that cannot be checked. A flag is raised, and suddenly — in an instant — they are knee-deep in an ethical sh*tstorm they didn’t even know existed and were not prepared for. There is an unfolding of one test into another and suddenly, the results leave you with more questions than certainties. Gradually, trapped.

In the end, my prenatal testing experience did give me a sort of “certainty.” Or as close to it as it is possible to have. But at what cost?

My ultimately healthy pregnancy resulted in both a beautiful baby girl and a nasty bout of postpartum depression, one that lifted with the help of time and a good therapist. I can’t help but see a connection between the grief that my prenatal testing experience imposed on my pregnancy and the PPD that descended when my daughter was born. And I will always be sad I wasn’t all the way present for her first months on Earth.

“There are so many reasons why attachment can be interrupted. Anytime there’s fear during pregnancy, delivery, or immediately postpartum,” says Felicity Colangelo, a counselor who specializes in perinatal care, when I ask her if my prenatal grief could be connected to the postpartum depression I experienced. It’s a normal survival response, she tells me, to disregard the fetus that’s growing in an effort to protect ourselves from grief. I wish I had called my grief by name when it came into my pregnancy. The ease with which Colangelo explains it all reminds me how powerful the right help at the right moment could have been. If I had named and processed my grief when it was happening to me, could I have parted with it before she was born?

Even in an ideal prenatal testing framework, one in which I truly understood what I was getting into, I was always going to find myself in a mess. But could it have been less traumatic? I believe so, yes. My experience with getting a complicated prenatal screening result is far from unique — this is happening to many, many pregnant people and as testing becomes more complex and routine, it is likely to happen even more often. It all feels messy, murky and confusing. And that, says Bowman-Smart, is because it is.

“I’m even less sure than when I started. Generally speaking, we shouldn’t be restricting access to tests. I don’t think that’s the answer,” says Bowman-Smart. “At the end of the day, the answer to so many ethical issues in health care is, fundamentally, resources. Whether it’s more counseling, more education, more professionals, more time — all of that is resources, and all of that is money. You can craft perfect guidelines, but if doctors don’t have enough time, what’s the point? We need to help people make decisions that they’ve reflected on and that they feel are right for them. We can only do that with adequate resources.”

I know that it would have helped me immensely if someone had said “This is very hard; here’s a good perinatal psychologist with a spot for you on their schedule.” I know how impossible it sounds that mental-health support like that would ever become as routine as the tests I underwent. And yet, we deserve it. My daughter deserved a mother who had processed the grief and trauma that had nothing at all — it turned out — to do with her. I wish I had demanded it. I wish I had been informed enough to know that I’d need it.