Table 2.
Proposed criteria for flagging a potential chromosomal rearrangement.
| 1) Reciprocal translocations | Predictive value |
| A terminal, segmental imbalance in ≥2 embryos, involving the same chromosome and the same breakpoint | 97% (n = 33) |
| 2) Rob(13;14) translocation | |
| Three or more embryos with complete aneuploidy of chr13 or chr14 with ≥50% of the cohort affected | 100% (n = 3) |
| 3) Inversions | |
| Two or more embryos with characteristic inversion “stair” pattern in any cohort size | 100% (n = 2) |
Note: These criteria are proposed to be applied to the results of a preimplantation genetic testing for aneuploidy cohort to determine the likelihood of a balanced rearrangement in the egg or sperm source. If cases meet the criteria, it is recommended to perform high-resolution karyotyping, followed by FISH analysis in the case of a possible cryptic translocation. The clinical history of the reproductive couple should also be taken into consideration.