When Genetic Testing Failed: A Family's Struggle with IVF and a Misdiagnosis

Trusting Science, Facing Failure

When my husband and I were expecting our first child in 2016, we imagined the future every parent dreams about. We had a gender reveal and found out we were having a boy. We started buying things and preparing for his arrival. However, at our 20-week anatomy scan, everything changed.

"We were forced to make the heartbreaking decision to terminate the pregnancy for medical reasons."

Doctors told us our baby boy had Meckel-Gruber syndrome, a rare genetic disorder that is always fatal. His organs were severely affected, his kidneys were enlarged and not functioning properly, and parts of his skull had not developed correctly.

A Second Chance, Then a Breakdown

In the aftermath, we learned something else devastating—my husband and I were both carriers of the condition, and every future pregnancy would carry a one-in-four chance of being affected. When we eventually decided to try for another child, doctors suggested IVF with preimplantation genetic testing for monogenic disorders, known as PGT-M.

The test is designed to screen embryos for a specific inherited condition before they are transferred. At first, I didn't feel comfortable with the suggestion. IVF felt invasive, expensive and overwhelming. But after more than a year of trying unsuccessfully to conceive naturally, we decided it was our best chance of avoiding another loss.

Hope in a Lab, Reality in the Clinic

We put our faith in the science. Across three rounds of IVF, we created 20 embryos. Most were ruled out because they were affected by Meckel-Gruber syndrome or had other genetic issues. But four embryos came back with the result we had been praying for. Three were labelled completely unaffected.

One was labelled a carrier, like my husband and me, but not expected to develop the disease. We felt enormous relief. After everything we had been through, we believed we finally had a path forward.

In 2019, we transferred one of the embryos that had been classified as unaffected. The transfer resulted in identical twins. Seeing them arrive healthy felt like a miracle after years of heartbreak.

The Unthinkable: A Misdiagnosis

Life remained far from easy. When one of my daughters was just four months old, she began experiencing epileptic seizures. At 16 months, doctors discovered a brain tumor and she underwent brain surgery. Thankfully, she recovered and is thriving today.

Because of everything our family had already endured, we waited several years before transferring another embryo. In 2023, we transferred the embryo that had been classified as a carrier. At 17 weeks pregnant, we received another devastating diagnosis. Our baby boy, Everston, had Meckel-Gruber syndrome.

I remember calling my fertility clinic from the hospital. I told my reproductive endocrinologist that this embryo had been tested and cleared for the very condition it now appeared to have. She told me she had never encountered a case like this before.

How Can This Happen?

There are different forms of embryo testing. Some tests screen for broader chromosomal abnormalities and cannot guarantee an embryo will implant or result in a healthy pregnancy. But PGT-M is different. It is intended to identify whether an embryo carries a specific genetic condition.

Our embryo was tested specifically for Meckel-Gruber syndrome. We had every reason to believe the result. Losing Everston was devastating. What made it even harder was knowing how much we had sacrificed to try to prevent exactly this outcome.

The Cost of Hope

At one appointment, a well-meaning healthcare worker told me we could always try again, but IVF isn't something you simply do again. By that point, we had already spent more than $100,000 trying to grow our family.

Since losing our son, we have transferred our remaining embryos. Neither resulted in a pregnancy and we have also completed three more rounds of IVF. In total, we have now undergone six rounds. None of the most recent cycles produced a single embryo suitable for transfer.

A Journey to Understanding

One of the hardest conversations was explaining everything to my children. Sharing the news publicly felt difficult but telling them they would not be getting the baby brother they had been expecting was far more painful.

I've shared my story online since losing my first son in 2017. At the time, I was living in New York City, far from family and friends, and I didn't know anyone who had experienced what we were going through. I started documenting our infertility journey, IVF treatments and pregnancy losses in real time.

Over the years, I discovered a community of people navigating similar experiences. Meckel-Gruber syndrome is incredibly rare and families who receive the diagnosis often feel completely alone. I've had women and fathers contact me through social media to say they just received the same diagnosis and didn't know where else to turn.

When the Science Fails

If there is one thing I want people to understand, it is that my experience is extraordinarily rare. But I am one of the small percentage of families for whom PGT-M testing failed. I still don't know exactly what went wrong. Whether it was human error, a testing error or something else entirely, I may never get an answer.

What I do know is that we did everything we could to avoid losing another baby to Meckel-Gruber syndrome. And somehow, it happened anyway. Today, I find myself wondering about the embryos that were never transferred and the results we trusted without question.

I hope no other family ever has to experience what we did.