Is PGT-M done with next-generation sequencing?

PGT-M means preimplantation genetic testing for monogenic disease. It is designed around a specific inherited condition and the gene change linked with it. After embryo biopsy, the laboratory examines DNA from sampled cells. Next-generation sequencing can read the targeted gene region and, in some laboratory workflows, nearby DNA markers that help interpret the result.

The test is tailored to the family’s known variant, so preparation may involve reviewing previous genetic reports and testing relatives. A result applies to the condition being assessed; it does not provide a complete health forecast or rule out every genetic difference.

Before treatment, ask whether the laboratory has completed a family-specific test setup and whether additional blood samples or genetic reports are needed. Discuss how embryos will be classified, how uncertain findings are reported, and whether confirmatory prenatal testing will be offered after pregnancy. A reproductive genetic counsellor can support decisions that feel technically or emotionally difficult.

Seek urgent medical advice for severe pain, heavy bleeding, fever, fainting, or shortness of breath after fertility procedures. Ask the care team for an early review if a PGT-M report is inconclusive, conflicts with a family result, or leaves you unsure about embryo transfer. Keep prescribed treatment changes under clinical supervision.

Which gene variant will this PGT-M plan target? How was the laboratory test setup validated for our family? What can an inconclusive result mean? Will pregnancy testing be recommended, and when will we receive counselling about the result?