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IVF Hope Shattered: Rare Genetic Test Failure
7 Sep
Summary
- PGT-M testing failed to detect Meckel-Gruber syndrome in an embryo.
- The couple spent over $100,000 on multiple rounds of IVF.
- The rare genetic disorder, Meckel-Gruber syndrome, is always fatal.
A couple's journey to expand their family was marred by profound loss, even after undergoing IVF with PGT-M genetic testing. In 2016, they discovered their first child had Meckel-Gruber syndrome, a rare and always fatal genetic disorder, leading to a medically necessary termination. Subsequent testing revealed both parents were carriers, facing a one-in-four chance of the condition in future pregnancies.
They opted for IVF with PGT-M, a test screening embryos for specific genetic conditions. After three rounds and creating 20 embryos, four were deemed unaffected or carriers. In 2019, an unaffected embryo resulted in healthy identical twins. However, in 2023, an embryo classified as a carrier was transferred, resulting in a baby boy, Everston, diagnosed with Meckel-Gruber syndrome at 17 weeks pregnant.
This unexpected diagnosis after trusting the PGT-M test was devastating, especially given the significant sacrifices made. The couple has spent over $100,000 on six rounds of IVF, with recent cycles yielding no viable embryos. While PGT-M is intended to identify specific genetic conditions, this case represents an extraordinarily rare failure, leaving the family to question what went wrong and hoping no other family endures such heartbreak.
