When my husband and I learned we 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. 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.
We were forced to make the heartbreaking decision to terminate the pregnancy for medical reasons. 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. 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.
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