Scroll down to listen, read, and learn about my family’s story about Non-Invasive Prenatal Testing and Turner syndrome; find resources on the subject, donate to the Turner Syndrome Foundation; or contact me about my story.
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On March 20, 2023, at around 5:30 p.m., I was told I would most likely miscarry my baby, and if I didn’t lose her, she would probably be born with the chromosomal abnormality Turner syndrome. Getting this news was devastating, shocking, confusing, frustrating, and above all, incorrect. This is the story of my family’s experience with Non-Invasive Prenatal Testing and how I lost faith in much of the medical community.
The test results…
I’d voluntarily taken a Non-Invasive Prenatal Test (NIPT) at around the 14-week mark of my pregnancy. NIPT is a blood-based genetic, prenatal screening test for a pregnant woman that screens for gender and chromosomal abnormalities. NIPT looks at the “fetal fraction” in a mother’s blood, which is the percentage of the baby’s DNA in a specific blood draw. My NIPT, specifically, screened for 13 chromosomal abnormalities such as Down syndrome, Edwards syndrome, Klinefelter syndrome, Turner syndrome, and more.
About 10 days after my blood draw, my OBGYN called to tell me our baby girl, Clara Anne, was high risk for Turner syndrome, or as it’s also known, Monosomy X. Turner syndrome is a chromosomal abnormality that neither my husband, Lane, nor I could have passed on to our daughter. Per the Mayo Clinic, “Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop, and heart defects.”
Girls with Turner syndrome can also experience abnormal kidney development; hearing loss and vision issues; physical abnormalities such as wide or weblike neck, low-set ears, low hairline, slowed growth, receding or small lower jaw; failure to begin hormonal/sexual changes expected during puberty; and inability to conceive with or without fertility treatment. There are two forms of Turner syndrome — Classic and Mosaic, and although it is rare, males can be Mosaic as well — meaning the disabilities associated with the abnormality vary.
Most babies with Turner syndrome don’t make it to the second trimester, which thankfully at that point, we had already entered. While a higher risk of miscarriage was still a concern, we were grateful we’d made it through the first trimester and I tried to push thoughts of pregnancy loss out of my mind. Instead, I focused on the threat of infertility for my unborn daughter. I thought, “How am I going to tell a teenage girl she can’t have babies when she asks why she’s not going through puberty like all her friends?” Because as much as we’d try to avoid it, that’s where the conversation would eventually lead.
I also wondered, “What happens when they go over chromosomes in biology class and talk about chromosomal abnormalities? If she has physical markers of Turner syndrome, her classmates would notice. How would a teenager cope with being exposed like that in front of her peers? Would she be made fun of?”
My mind was racing. I was a first-time mother. I was already scared and anxious about raising a child. I had barely grasped the concept of being pregnant just a few weeks prior. Now this?
I didn’t know how to react, so I just tried to accept our reality.
The facts…
When they called to deliver the news, my doctor was cordial. They said this test was 98% accurate, “usually not wrong,” and that I needed to mentally prepare to either miscarry or raise a child with a difficult lot in life. Per policy, we were asked if I wanted to terminate my pregnancy based on the abnormal NIPT. Lane and I made it explicitly clear we did not want to terminate, and the doctor said an amniocentesis and/or an extensive ultrasound and echocardiogram would be our next step. We were referred to a genetic specialist to run more tests and further educate us.
Lane and I tried to stay away from the depths of the internet after hearing the news. We knew, if we wanted to go digging on Google or social media to find someone who’d had a false-positive on a NIPT, we could, but we didn’t want to be in denial. We trusted my doctor and knew we needed to face our reality, so we looked up Turner syndrome on the Mayo Clinic website and tried to accept the facts: we’d probably raise a child with Turner syndrome, it might be difficult, but it would be okay — we’d be okay.
“It could be worse,” we said over and over that night, “at least we’ve made it to the second trimester.” We prayed Clara would make it to a live birth, that she wouldn’t have heart or kidney defects requiring surgery as an infant, and that any other abnormalities she may have would be minimal. We promised to raise her to be tough so she could withstand any bullies, and we vowed to be strong for her no matter the challenges she may face.
We told our parents the news and unlike us, they didn’t shy away from researching the accuracy of NIPT — for which I will always be grateful! It started with my mom sending me an investigative article from The New York Times and snowballed. Over the next few days, we sent articles and medical studies back and forth and consulted with some friends in the medical field as well as genetic specialists. By the end of the week, we were all confident the results from my NIPT were questionable at the very least.
Highlights of our findings (sources linked at the end of this post):
In detecting Turner syndrome, specifically, NIPTs can range from only 20-30% accurate, with an upward of a 70% false positive rate. NIPT is painfully inaccurate for 10/13 chromosomal abnormalities it screens for – in fact, NIPT has only a 2% accuracy for detecting one of these abnormalities.
There is no governing body over NIPT and no one to hold testing companies accountable for their methods or results. The FDA is trying to gain some sort of “jurisdiction” over NIPT to help regulate its marketing practices and educational resources for doctors. The agency warns people against NIPT.
Fetal Fractions of less than 4% are considered unreliable, and the fetal fraction from my blood test was only 3.2%. Given such, why were my results released to me in the first place, if they were considered unreliable? Furthermore, why was this not mentioned to me?
According to personal accounts we found via news articles and social media, many women chose to terminate their pregnancies because of a high-risk result for Turner syndrome (or other rare genetic abnormalities) on an NIPT. This makes me beg the question: how would YOU feel had you chosen to terminate your pregnancy based on results that you later found out were, at best, 30% accurate?
Making matters worse, when my NIPT results were finally released to me so I could put my own eyes on them, I learned that my test, specifically, didn’t say “high risk” like we were told, it had “65/100” printed on the page next to Turner syndrome. It appeared to me the results noted a 65% chance my daughter would be high risk for Turner syndrome. So why did my doctor tell me Clara Anne had a 98% chance of having Turner syndrome? I scheduled a consultation with a genetic counselor from the testing company to go over my results, and when I asked the counselor about the 65/100 result, they completely dodged the question and couldn’t give me an explanation… come to think of it, they dodged every question during our 15-minute counseling session, but I digress.
Right about now, you’re probably thinking, “NIPT is ‘just’ a screening, it’s not a diagnostic test, and it’s voluntary, what’s the big deal?”
This is the big deal: we were told, repeatedly, by medical professionals that NIPT is 98% accurate and we needed to prepare for our baby to be born with Turner syndrome. They said it would be a miracle if she was born at all, let alone born without Turner syndrome, and that she had a 1-2% chance of not having a life-threatening and altering genetic disorder. When the person you trust to not only care for you during your pregnancy but deliver your child, is telling you to mentally prepare for your baby to be born with a chromosomal abnormality, all the while hammering “98% accurate” in your brain over and over, it’s no longer “just a screening” to you; it’s a nightmare.
The final stretch…
After reading dozens of research papers, medical journal entries, and consulting with our genetic specialist, we opted out of the amniocentesis and stuck to the treatment plan of ultrasounds and echocardiogram — all of which came back free of any markers for Turner syndrome — and we planned to test Clara’s blood once she was born.
The rest of my pregnancy (and even the few days after Clara’s birth) was filled with nothing but joyless and stressful events, one right after the other. We went to the doctor almost every week, sometimes twice a week. At one point we were told Clara Anne was considered “small” and was measuring in the 8th percentile. This could’ve been a sign of Turner syndrome, but I was still unconvinced. Call it denial or blind faith, but I just knew she’d be born and her blood test would come back free of any chromosomal abnormality.
Delivery was a surprisingly good experience, I joked that I had an easy labor because of all the stress I endured during my pregnancy. When Clara Anne was born and the doctor handed her to me for the first time, I looked at her and tears ran down my cheeks — she was perfect in every single way. I looked into her big eyes that looked just like Lane’s and I knew she didn’t have Turner syndrome; I could feel it in my bones. I threw my head back, closed my eyes, and out loud, prayed, “Thank Jesus, thank you, thank, thank you.”
The finish line…
Approximately one hour after delivery, Lane and I were finally alone with Clara Anne, and we were fawning over our baby girl. Two nurses came into our room, one nurse training the other, and began Clara’s newborn assessment. I don’t think they realized we could hear them talking, but one nurse identified 5 possible markers for Turner syndrome based on my baby girl’s appearance.
When I asked about her comments, the nurse gave me a puzzled look, then proceeded to backtrack, saying she was just training the other nurse and normally wouldn’t have said anything out loud. She said the markers she identified could be Turner syndrome related or maybe they weren’t, she didn’t know for sure. The nurses left the room and Lane and I just stared at Clara… at least we got to experience 60 minutes of new-parent bliss, I guess.
The next morning, a pediatrician came in to assess Clara Anne, and contrary to what the nurse had pointed out, she saw absolutely NO markers for Turner syndrome. She ordered a blood test to be sure before she gave us the official yes or no.
Four days later, we got preliminary results which showed no evidence of Turner syndrome in Clara Anne’s DNA, and a few weeks later, on September 20, exactly six months after we got the phone call kicking this whole experience off back in March, we were notified that the official results were in: Clara Anne Cremer did NOT have Turner syndrome.
We had a lot of faith backed by science, with gut feelings to top it all off. By the time Clara Anne was born and her blood was tested, we weren’t even shocked at the result. I called Lane to tell him the good news, he laughed and said, “Well, we already knew that,” which made my mama-heart double in size.
The appointment…
Seven weeks after Clara Anne was born, I went to my postpartum appointment and talked to my doctor about the whole NIPT and Turner syndrome ordeal. They were happy to hear her official blood test results and I presented them with all the evidence I had about NIPT not being as reliable as they originally presented it to me. To my surprise, they didn’t try to tell me I was wrong.
Instead, they told me my blood should’ve never been tested for Turner syndrome in the first place — they ordered for my blood to be tested for gender, Trisomy 13, Trisomy 18, and Trisomy 21 only. They said their clinic only orders tests for these four results unless otherwise requested or suggested. They do this because, in my doctor’s own words, “it’s way more accurate than the full screening” (which looks for gender and 13 chromosomal abnormalities). They apologized for the mix-up and assured me their office had not ordered the full screening; it was just a fluke that the testing company had run my blood sample for the full screening.
I told them about my difficulties getting my test results released to me from the testing company. They said in all their other patients, test results could be viewed via the lab’s online portal shortly after doctors relayed the information to their patients.
“I wonder why I couldn’t see them then? It took 10 whole days after you gave us our results and quite a few customer support calls and emails before I saw them myself,” I said. My doctor said the lab probably had a legal team telling them not to release my results to me because they ran the wrong test.
The doctor said in the weeks following their initial phone call to me, they visited with our genetic specialist and looked into NIPT on their own, in-depth. They said they uncovered all the same findings we had, and I was justified in my feelings. We talked about the dangers of the misinformation surrounding NIPT and the amount of people who terminate based on NIPT results. They said they ensure their patients are better educated on NIPT now and apologized for the whole situation.
I left that appointment with mixed feelings. On the one hand, I was satisfied that my doctor believed me and agreed with me, and that they’d apologized; I was happy they claimed to handle high-risk NIPT results differently; I even felt a little brave for bringing up my issues with NIPT.
On the other hand, I was disappointed. If my doctor really felt this way, and if they knew about the NIPT’s inaccuracy while I was still pregnant, why didn’t they say something to me? Sure, after I had done my own research, I wasn’t as worried as I was initially — but they didn’t know that. Lane and I even mentioned our research to them at our first appointment following their phone call and they just shrugged us off… did they know about the inaccuracies of NIPT then?
I couldn’t believe it: I saw my doctor almost weekly for six solid months while being monitored for my “high-risk pregnancy,” and there was never a time to present Lane and me with the information they found? If they really cared for their patient’s well-being, why didn’t they speak up? Did they have lawyers or higher-ups telling them not to talk about the situation unless we brought it up again? Had they, themselves, been the one to make a mistake in ordering my test? Did they not understand the severity of our situation?
But who was I to ask these questions? I was just another patient; another body taking up a delivery room bed; another naïve, worrisome, expectant mother who thought she knew better than the person she trusted to care for her family — and we’re a dime a dozen, aren’t we? And there…there within lies the problem.
But who was I to ask these questions? I was just another patient; another body taking up a delivery room bed; another naïve, worrisome, expectant mother who thought she knew better than the person she trusted to care for her family — and we’re a dime a dozen, aren’t we? And there…there within lies the problem.
The aftermath…
When this whirlwind experience was over, I took a breath but knew our story wasn’t finished just yet — we needed to share it, which meant I needed to conduct further research. So, I visited with medical professionals who specialize in genetics and/or Turner syndrome. I told them our story and asked, “How did something like this happen?”
Their collective answer, plain and simple: misinformation.
These professionals said they hear stories like mine all the time and that doctors tend to present the results of these screenings as diagnostic, just as my doctor did. They all thought this was the root of the problem.
I believe companies who market their tests by padding research results and broadcasting them to doctors and patients (when there’s unbiased, reliable research out there to contradict their claims) are also an issue. I also think there are likely some patients out there who don’t understand the difference between a screening and a diagnostic test.
But I ask, who’s really to blame here? Companies, who have no governing body and want to sell as many tests as they can? Doctors, who agree to blindly administer these tests? Or uninformed, expecting parents, who want the best care for their unborn child? Regardless of where the issue stems, it’s still an issue and it needs to be fixed. So here I am now, one year after we got that devastating phone call that changed our lives, trying to fix it.
As I reflect on this experience, I feel like I’m on a rollercoaster of emotions. I am first and foremost grateful that my NIPT was wrong. I get sad when I think about those first few sleepless nights, I wouldn’t wish that feeling of panic and uncertainty on anyone. I get angry when I think about the way so many people in the medical community let us down; but I’m also wildly appreciative of those in the field who took the time to do their research and gave it to us straight, telling us not to give up hope. I tear up with overwhelming joy when I think about the people in our lives who were there for us every step of the way. We largely kept this information to ourselves, but our little circle was always there for us, even when I was up at 3 a.m. rage-researching more NIPT information — we had an incredible support group.
I find myself scanning the “what ifs.”
What if I’d never taken a NIPT at all?
What if my doctor had said something like “These results are not diagnostic, it’s just a screening, don’t freak out yet,” rather than “you need to mentally prepare yourself to either miscarry or to raise a child with Turner syndrome?”
What if I’d chosen to terminate my pregnancy based on the NIPT results?
That last one is what pushed me to share my story. I can’t imagine my life without Clara Anne in it, and I’m so glad I didn’t end her life before it even really began. Truly, if I had terminated and later found out the inaccuracies, misinformation, and educational gaps associated with NIPT, I don’t know if I could live with myself.
No matter your stance on termination, I beg you not to make life-altering decisions solely based on NIPT until you’ve done your research; and if you are going to take a NIPT, please consult with more than just your doctor or the company that sells these tests.
I reiterate: this is just my family’s experience with NIPT. I’m sure there are cases out there where NIPT was accurate and were able to catch some life-threatening issues; unfortunately, the only thing our NIPT did was scare us and send us to the doctor for more ultrasounds and tests.
We lost so much sleep over our NIPT result and we wrestled with our feelings and our faith when in reality, we had nothing to worry about. I was terrified, all because of an inaccurate test that said my baby had a 65% chance of *maybe* having Turner syndrome.
I encourage you to educate yourself and your loved ones on NIPT. Please, share this story with anyone and everyone you know so women are INFORMED before making such life-changing decisions. If you, yourself, get a result like we did: do your research, have a little faith, and don’t give up hope.
OUR TOP SOURCES:
TURNER SYNDROME & OTHER INFO:
PERSONAL ACCOUNTS:
THE FAITH ASPECT
This entire experience grew my faith exponentially. I was given a unique opportunity to share my testimony with my Texas church family at Cuthand Church on Sunday, December 24, 2023. Click the button below to watch my father and mine’s sermon!
*This sermon was recorded via Facebook Live, meaning other parts of the church service are included in the recording. Feel free to watch the service in its entirety, or, skip ahead to 38:25 on the time bar to hear our message.
