Navigating the Challenges of Genetic Testing in IVF

In 2016, Ansley Van Epps and her husband learned they were expecting their first child. They discovered they would have a son and began preparations. However, a 20-week scan revealed their baby had Meckel-Gruber syndrome, a genetic disorder that is always fatal. His organs and skull were severely affected, leading them to a heart-wrenching decision to terminate the pregnancy.

The couple discovered they were carriers of the syndrome, with a one-in-four chance of future pregnancies being affected. They opted for in vitro fertilization (IVF) with preimplantation genetic testing for monogenic disorders (PGT-M). This test screens embryos for specific genetic conditions before transfer. Despite initial hesitations, they pursued IVF after a year of unsuccessful natural conception attempts.

Three IVF rounds produced 20 embryos, but most had genetic issues. Four were free of Meckel-Gruber syndrome, with three unaffected and one a carrier. The couple felt hopeful and, in 2019, transferred an unaffected embryo resulting in healthy identical twins. Despite challenges, including brain surgery for one twin, the family moved forward.

In 2023, they transferred the carrier embryo and, at 17 weeks, learned their unborn son, Everston, had Meckel-Gruber syndrome. Despite testing, tragedy struck again, leaving them heartbroken. They had spent over $100,000 trying to grow their family, transferring remaining embryos without success, and completing six IVF rounds without more viable embryos.

Ansley shared her story online, connecting with others facing similar struggles. Meckel-Gruber syndrome is rare, leaving families feeling isolated. Despite PGT-M testing’s intent to identify specific genetic conditions, errors occurred, and their experience was unique. Ansley remains uncertain about the failure’s cause, whether due to human or testing error.

Reflecting on embryos not transferred and results taken on faith, she hopes no other family endures such pain. Today, Ansley continues her life as a newborn photographer in Tampa, Florida, with her husband, David Hoyt, and twin daughters, Savannah and Sydney. She documents their family life on social media.