What it’s Like Getting Bad News from a Prenatal Ultrasound
When my husband and I went in for our anatomy scan, we weren’t prepared for the uncertainty that would follow.
On September 20, 2022, my life took a significant turn. Just days earlier, I enjoyed a music festival in Chicago with friends, marking the end of our carefree weekends for a while. At 18 weeks pregnant, I knew that life was about to change, but little did I know just how profoundly different it would become.
Our first prenatal anatomy scan was set for Tuesday after our weekend in Chicago. This was a routine ultrasound where they would take detailed pictures and measurements to ensure that the baby was healthy. The first anatomy scan is a huge moment for parents. It’s when the abstract idea of parenthood starts to feel real. There was a mix of excitement and anticipation for us, and we were glad to have had a fun weekend with friends to distract from the upcoming appointment.
The ultrasound technician at our appointment was a newly hired employee. She explained that she might seek assistance during our appointment but assured us it was normal and began the procedure. Applying warm gel to the ultrasound wand, she skillfully maneuvered it across my stomach, pressing firmly in certain spots and swiftly capturing the images and measurements. Although the screen displayed black and white blobs to my husband and me, we eagerly squinted, hoping to discern features like a face, hand, or foot.
Then the technician paused and said she would be right back. After a brief moment, both the technician and another woman, presumably her mentor, reentered the dimly lit room. The mentor observed attentively as the technician resumed the scan.
After a few more minutes, she stopped the trainee and crouched to better view the screen.
“In cases like this, you should be sure to measure where the umbilical cord intersects – err in every case,” she muttered. Though finding this phrasing peculiar, I dismissed any concerns, thinking I might be overanalyzing the situation. The mentor then informed the new technician that she would take over due to time considerations.
With efficiency that marked a seasoned technician, she finished taking the remaining measurements.
“Did you want to know the sex?” she asked.
We did.
We had done a non-invasive prenatal test (NIPT) a few weeks before the ultrasound. The NIPT is a blood test that not only assesses risks for chromosomal abnormalities, such as Trisomy 21 (Down Syndrome) and Trisomy 18 (Edward’s Syndrome), but also happens to detect the baby’s sex. We received low-risk results for chromosomal abnormalities and the delightful news that we were expecting a boy. My husband and I decided to keep the sex a secret until after the anatomy scan. We were cautiously aware that despite the NIPT results, there were still uncertainties that could only be dispelled by the anatomy scan.
The technician confirmed that we were, indeed, having a boy and then excused herself from the room.
My husband and I waited alone in the ultrasound room, giddy about seeing our son for the first time. After several moments, the mentor returned, looking frazzled and sounding out of breath.
“Ugh, sometimes you just forget the most basic things! I forgot to get the heart rate. Can I have you lie down again?”
Capturing a few more snapshots of the baby, she shared the reassuring news of a perfect heart rate – a steady 160 beats per minute. Excusing herself briefly again, she returned for the final time, presenting us with ultrasound photos. We shuffled through the pictures before leaving the appointment. Most of them seemed indecipherable, but among them, a clear facial profile and another featuring two kicking feet stood out. We were in love.
We were scheduled for another prenatal appointment with my midwife a few hours later. It was standard protocol for a follow-up after the anatomy scan to review results. Anticipating the visit with a mix of nerves and excitement, we were called back from the waiting room to the office. The midwife informed us that the results weren’t ready, apologized, and assured us she would promptly call with the information once available. With no further questions, the brief appointment concluded in just five minutes.
Several days went by without a phone call from my midwife. I found myself compulsively checking my online patient portal, repeatedly scanning for an early inkling that the results were in. I did this over and over again-- multiple times each day.
Finally, a few days later, a new document appeared in my portal: “Radiology Results – Ultrasound OB >14 weeks.” Naively, I clicked on the document, anticipating a brief report declaring the ultrasound unremarkable and confirming everything as normal. To my surprise, the report was extensive and detailed, far from what I’d expect a “normal report” to look like. Reluctantly, I skimmed through until I reached the radiologist’s final summary:
Impression
1. Single, live intrauterine fetus at approximately 18 weeks and 1 day based on early obstetric ultrasound and last menstrual period, with an estimated due date of 2/20/2023.
2.Large omphalocele measuring 3.7 x 2.9 x 2.7 cm, with a large abdominal wall defect measuring 2.7 cm in transverse dimension.
3. Right atrium appears enlarged.
4. Two vessel cord.
5. The fetal anatomical survey is otherwise complete and within normal limits.
6. Suggest maternal fetal medicine consultation with follow-up obstetric ultrasound and fetal echocardiogram.”
Much of the summary’s phrasing was unfamiliar to me, but it sounded concerning. Naturally, I turned to Google for more information, but the search didn’t provide reassurance:
Omphalocele
“An omphalocele is a congenital abnormality in which some of the abdominal organs of an infant protrude through an opening in the muscles near the umbilical cord. The organs are covered by a thin membrane, however, protecting them at birth from exposure to infection.
Many babies who have an omphalocele have other conditions: 30 percent have a genetic disorder, most commonly Trisomy 18 and Trisomy 13, Trisomy 21, or Turner syndrome. Other infants with omphalocele have Beckwith-Wiedemann syndrome. More than half of babies with omphalocele have malformations of other organs or body parts, most commonly the spine, digestive system, heart, urinary system, and limbs.”
Source: Boston Children’s Hospital
Enlarged Right Atrium
Unsure of the significance, I recognized it was related to the heart, heightening my concern. Referring to the National Institute of Health, an enlarged right atrium can be indicative of bigger issues:
“[Enlarged right atriums] are associated with chronic obstructive pulmonary disease, pulmonary hypertension, and congenital heart disease.”
Source: National Institute of Health
Two Vessel Cord
I proceeded to look up the definition of a two-vessel cord, and that’s when I had enough.
“Your baby’s umbilical cord should have two arteries and one vein. It is often referred to as a three-vessel cord. Sometimes, one of the arteries is missing, usually the left one. If your umbilical cord only has one artery, it increases your risk for fetal anomalies.
Single artery umbilical cord problems only happen in around 1% of pregnancies, although the risk increases to 5% for twin pregnancies. A lack of one vessel is called a two-vessel cord. This condition increases the risk of:
You having high blood pressure toward the end of your pregnancy
Your baby being smaller than average
Infant death soon following birth
Trisomy 18
Cardiovascular abnormalities
Gastrointestinal issues
Esophageal atresia
Kidney problems”
Source: WebMD
It felt as if someone had knocked the wind out of me. The realization that so many things could be wrong with our baby was overwhelming. As I finished scrolling through the disconcerting Google results, my husband happened to enter the room. The weight of the news left me speechless. I could tell that he knew something was wrong. After a few seconds of silence, I finally mustered the words: “The ultrasound results are in. It’s bad.”
“What do you mean?” My husband asked.
“It’s bad,” I said, resting my head on my desk. Those words alone sucked the last of the remaining energy from me.
The statistics hit hard – large omphaloceles occur in 1 in every 4,000 live births, making the odds seem nearly impossible. Faced with this information, coupled with the additional ultrasound findings, like the enlarged atrium and a two-vessel cord, my mind raced to the possibility of a chromosomal abnormality, particularly Trisomy 18, which was recurrent in my search results. The grim reality that babies with this condition often either don’t survive birth or live short lives engulfed my mind. In my eyes, I felt like I was carrying a child with no chance. Despair set in, as I believed our luck had taken an awful turn, and the worst-case scenario was all that I could think of. The tears flowed and we were hit with waves of sorrow unlike any we had ever experienced.
Seeking a glimmer of hope, I called my OBGYN office, but my midwife was unavailable. The rest of the day blurred into a daze as my husband and I navigated through it in a state of shock.
We reached out to our family by text. We informed them about the distressing news from the ultrasound, but expressed our inability to discuss it at the moment. I told my aunt, who had been organizing my baby shower with my mother-in-law’s assistance, to postpone sending out invitations. Who knew if I’d even have a baby to shower with gifts after all?
The next day, my midwife returned my phone call. Her somber tone told me that she, too, understood the gravity of the results. Anticipating the bad news, I interjected, “I already know,” and tears flowed as the weight of the situation became all too real.
“I understand this is scary. I would be scared, too,” my midwife said.
“Will my baby live?”
“I can’t answer that. I don’t know. You’ll need to see a specialist,” she replied.
I hung up the phone. My plea for hope was unanswered and I was left alone with my feelings of despair.
A few days later, we met with a genetic counselor and her intern. During this consultation, they reiterated the information I had already come across online. Additionally, they mentioned the possibility of the NIPT results being inaccurate, and given the presence of other abnormalities, there was a significant chance our baby might have Trisomy 18. The only definitive way to know was through a procedure called an amniocentesis. This procedure involves using ultrasound guidance to insert a long needle into the uterus, extracting a sample of the amniotic fluid. The sample is then sent to a lab for genetic analysis. Although the results can take several weeks, they are considerably more accurate than the NIPT.
When the time came to meet with maternal-fetal medicine (MFM), I had to undergo another ultrasound. This time the ultrasound room was crowded. The genetic counselor, her intern, two nurses, the MFM, an ultrasound technician, and my husband were all there. For another 45 minutes, I laid on the table as they captured additional snapshots and measurements of the baby.
The appointment concluded with the technician assisting the MFM in guiding a long needle into my uterus. Everyone watched carefully with bated breath. In that moment, I felt dehumanized, akin to a hands-on exhibit in a museum or a subject in a research lab. The atmosphere was somber and quiet. They observed the needle sink into me and marveled at this baby with a rare congenital defect. Eagerly, I awaited the end of the appointment. I just wanted to go home.
After completing the procedure, I wiped the gel off my stomach and sat up to discuss the results with the MFM. To everyone’s surprise, he was optimistic. The doctor didn’t observe any of the usual indicators of chromosomal abnormalities, and our baby actually looked quite healthy. Glances were exchanged between the genetic counselor and intern, indicating an unexpected outcome, and then they smiled. The atmosphere in the room lightened. We would have to wait on the amniocentesis results to know for sure and closely monitor the pregnancy, but the doctor expressed hope for a positive outcome.
“Enjoy the pregnancy,” he said with a smile.
The next month we received the eagerly awaited amniocentesis results. To our immense relief, everything was normal, and there were no signs of chromosomal abnormalities. However, our baby still faced challenges with an omphalocele and heart concerns. Fortunately, both were deemed treatable by our doctors.
The period preceding these results was emotionally grueling. It felt like we were enveloped in darkness, mourning the uncertain fate of our unborn son. In those weeks, nothing seemed to hold significance, and time dragged on. The daily struggles of life and work were overshadowed by the fear of whether our child would survive.
This experience was undoubtedly one of the lowest points in our lives. Waking up from that nightmare, I can’t help but recognize the amazing and unfair privilege of a positive outcome. Not every parent is granted this relief, and I’ll always be in awe of their fortitude and strength. My heart goes out to those who have had to endure the grief of similar situations.
