Genetic Testing Said Our Embryo Was Healthy. It Was Wrong
Summary
A couple used a genetic test called PGT-M during IVF to avoid passing a rare, deadly genetic disorder, Meckel-Gruber syndrome, to their children. Although the test showed one embryo was unaffected, that baby was diagnosed with the syndrome before birth, revealing limitations in the test's accuracy.Key Facts
- The couple’s first pregnancy ended due to Meckel-Gruber syndrome diagnosed at 20 weeks.
- Both parents are carriers of the genetic condition, with a 25% chance it occurs in each pregnancy.
- They used IVF with PGT-M testing to screen embryos for the disorder.
- Out of 20 embryos created, three were labeled unaffected, and one was labeled as a carrier of the condition.
- They first had healthy twins from an embryo labeled unaffected.
- A later pregnancy from an embryo labeled as a carrier resulted in a baby diagnosed with Meckel-Gruber syndrome.
- The couple learned that PGT-M testing might not be completely reliable in detecting this condition.
- They spent over $100,000 on IVF treatments and genetic testing to try to prevent passing on this disorder.
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