What are current recommendations for PGT-M?
[Verified against ESHRE PGT good practice recommendations 2020 — note these are 2020 documents; no 2024 ESHRE PGT guideline exists] Transfer policy. In PGT-M and PGT-SR, embryos with no result or an inconclusive result are NOT recommended for transfer. Where a case-specific preclinical work-up is required, it must be completed before the clinical cycle. Carrier embryos. For autosomal recessive and X-linked recessive disorders, the carrier status of embryos may be taken into consideration for selection, depending on local regulations and following adequate counselling. This should be discussed in advance rather than at the point of transfer. Specific counselling requirements ESHRE sets out: For structural rearrangements, the technology applied may not discriminate between normal and balanced results — patients should know their embryo may be a balanced carrier. For X-linked disease where the specific pathogenic variant cannot be detected, discuss the pros and cons of embryo sexing: all male embryos, affected or unaffected, will be discarded, and carrier females cannot be distinguished from unaffected females. For dynamic variants with repeat instability, the couple must be informed of the repeat expansion threshold below which embryos can still be transferred. Revealing embryo sex should be discussed within local legal constraints — relevant in India, where sex disclosure is prohibited under the PCPNDT Act. HLA typing — the numbers should be given upfront: 25% (1 in 4) of biopsied embryos genetically transferable with HLA typing alone. 18.8% (3 in 16) when concurrently excluding an autosomal recessive or X-linked recessive disease. 12.5% (1 in 8) when concurrently excluding an autosomal dominant disease. Also discuss the risk of a unique crossover in the proband, which makes finding a transferable embryo very unlikely. Reporting: written or electronic only, never oral; per embryo, tabulated, comprehensible to non-geneticists; signed by authorised personnel; discussed with the couple before transfer.
Sources
- ESHRE PGT Consortium good practice recommendations (2020)
Review by Fertility Connect Medical Team Pending
This information is general and does not replace advice from your own clinician.