Table 1.
RNA‐based PGT results and clinical outcomes of 82 embryos from 26 families.
| Case | Gene | Heredity model | Embryo ID | Cell number/ status | Monogenic defects diagnosis | Competence evaluation | Transplantable | Clinical outcomes | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Direct mutation detection | Linkage analysis | Result | Chr. exp. | Overall exp. | Prediction | |||||||||
| Mat. | Pat. | Mat. | Pat. | |||||||||||
| 1 | CLN3 | AR | Case1E1 | 5 / B | Het. | Failure | Het. | Het. | Aff. | Norm. | Low | Success | No | Abandoned |
| Case1E2 | 5 / A | WT | Failure | WT | Failure | Unaff. | Norm. | Low | Success | Recom. | Live birth | |||
| 2 | ATXN3 | AD | Case2E1 | 3 / B | – | WT | – | WT | Unaff. | Norm. | Low | Success | Recom. | Frozen |
| Case2E2 | 1 / A | – | WT | – | WT | Unaff. | Norm. | Low | Success | Recom. | Implantation failure | |||
| Case2E3 | 3 / B | – | Het. | – | Het. | Aff. | Norm. | Low | Success | No | Abandoned | |||
| Case2E4 | 3 / B | – | WT | – | WT | Unaff. | Norm. | High | Fail | Alt. | Implantation failure | |||
| Case2E5 | 5 / A | – | Het. | – | Het. | Aff. | Norm. | High | Fail | No | Abandoned | |||
| 3 | PRPF31 | AD | Case3E1 | 6 / B | – | Failure | – | Het. | Aff. | Norm. | High | Fail | No | Abandoned |
| Case3E2 | 2 / B | – | Failure | – | Het. | Aff. | Norm. | Low | Success | No | Abandoned | |||
| Case3E3 | 4 / B | – | Failure | – | WT | Unaff. | Norm. | Low | Success | Recom. | Frozen | |||
| Case3E4 | 2 / B | – | Failure | – | Het. | Aff. | Norm. | Low | Success | No | Abandoned | |||
| 4 | NF1 | AD | Case4E1 | 3 / B | WT | – | WT | – | Unaff. | Norm. | High | Fail | Alt. | Implantation failure |
| Case4E2 | 4 / B | WT | – | Failure | – | Unaff. | Norm. | Low | Success | Recom. | Frozen | |||
| 5 | ADA | AR | Case5E1 | 1 / A | Het. | WT | Het. | WT | Unaff. | Abn. | High | Fail | Alt. | Frozen |
| Case5E2 | 4 / B | Het. | WT | Het. | WT | Unaff. | Abn. | High | Fail | Alt. | Frozen | |||
| 6 | EXT1 | AD | Case6E1 | 2 / A | – | WT | – | WT | Unaff. | Norm. | Low | Success | Recom. | Frozen |
| Case6E2 | 5 / A | – | Het. | – | Het. | Aff. | Norm. | High | Fail | No | Abandoned | |||
| 7 | NF1 | AD | Case7E1 | 2 / B | WT | – | WT | – | Unaff. | Abn. | Low | Fail | Alt. | Implantation failure |
| Case7E2 | 4 / C | WT | – | WT | – | Unaff. | Norm. | High | Fail | Alt. | Frozen | |||
| 8 | PSAT1 | AR | Case8E1 | 4 / C | Het. | Het. | WT | Unaff. | Norm. | Low | Success | Recom. | In pregnancy | |
| Case8E2 | 3 / A | WT | WT | WT | Unaff. | Norm. | High | Fail | Alt. | Frozen | ||||
| Case8E3 | 5 / C | Het. | Het. | WT | Unaff. | Norm. | High | Fail | Alt. | Frozen | ||||
| 9 | EXT2 | AD | Case9E1 | 1 / C | – | Failure | – | Het. | Aff. | Norm. | Low | Success | No | Abandoned |
| Case9E2 | 3 / B | – | Failure | – | WT | Unaff. | Norm. | Low | Success | Recom. | Frozen | |||
| Case9E3 | 2 / B | – | WT | – | WT | Unaff. | Norm. | High | Fail | Alt. | Implantation failure | |||
| Case9E4 | 2 / C | – | Failure | – | WT | Unaff. | Abn. | Low | Fail | Alt. | Frozen | |||
| Case9E5 | 2 / C | – | Failure | – | Het. | Aff. | Norm. | Low | Success | No | Abandoned | |||
| 10 | PFKP | AD | Case10E1 | 2 / B | – | WT | / | Unaff. | Norm. | Low | Success | Recom. | Live birth | |
| Case10E2 | 5 / B | – | Het. | / | Aff. | Norm. | High | Fail | No | Abandoned | ||||
| Case10E3 | 5 / B | – | WT | / | Unaff. | Norm. | High | Fail | Alt. | Frozen | ||||
| 11 | UBA5 | AR | Case11E1 | 2 / A | WT | Het. | WT | Het. | Unaff. | Norm. | Low | Success | Recom. | Frozen |
| Case11E2 | 4 / B | WT | Het. | WT | Het. | Unaff. | Norm. | High | Fail | Alt. | Frozen | |||
| Case11E3 | 4 / A | WT | WT | WT | WT | Unaff. | Norm. | High | Fail | Alt. | Implantation failure | |||
| Case11E4 | 2 / B | WT (ADO) | WT | Het. | WT | Unaff. | Norm. | High | Fail | Alt. | Frozen | |||
| Case11E5 | 3 / B | WT (ADO) | WT | Het. | WT | Unaff. | Norm. | High | Fail | Alt. | Frozen | |||
| Case11E6 | 5 / B | WT | WT | WT | WT | Unaff. | Norm. | Low | Success | Recom. | Frozen | |||
| Case11E7 | 5 / B | WT | WT | WT | WT | Unaff. | Norm. | High | Fail | Alt. | Frozen | |||
| Case11E8 | 5 / A | Het. | Het. | Het. | Het. | Aff. | Norm. | High | Fail | No | Abandoned | |||
| 12 | DYNC1H1 | AD | Case12E1 | 1 / A | WT | – | WT | – | Unaff. | Norm. | Low | Success | Recom. | Live birth |
| 13 | BRCA1 | AD | Case13E1 | 3 / B | – | WT (ADO) | – | Het. | Aff. | Norm. | Low | Success | No | Abandoned |
| Case13E2 | 2 / C | – | WT | – | Failure | Unaff. | Null | Null | Null | Alt. | Live birth | |||
| Case13E3 | 4 / B | – | Het. | – | Het. | Aff. | Norm. | Low | Success | No | Abandoned | |||
| Case13E4 | 5 / B | – | WT | – | WT | Unaff. | Norm. | High | Fail | Alt. | Frozen | |||
| 14 | ATXN3 | AD | Case14E1 | 2 / A | – | Het. | – | Het. | Aff. | Norm. | Low | Success | No | Abandoned |
| Case14E2 | 3 / C | – | Het. | – | Failure | Aff. | Abn. | High | Fail | No | Abandoned | |||
| Case14E3 | 3 / B | – | WT | – | WT | Unaff. | Abn. | Low | Fail | Alt. | Frozen | |||
| Case14E4 | 3 / B | – | WT | – | WT | Unaff. | Norm. | High | Fail | Alt. | In pregnancy | |||
| Case14E5 | 2 / A | – | Het. | – | Het. | Aff. | Norm. | Low | Success | No | Abandoned | |||
| Case14E6 | 5 / B | – | Het. | – | Het. | Aff. | Abn. | High | Fail | No | Abandoned | |||
| 15 | LBR | AR | Case15E1 | 3 / C | Homo. | / | Aff. | Null | Null | Null | No | Abandoned | ||
| Case15E2 | 5 / B | Homo. | / | Aff. | Abn. | Low | Fail | No | Abandoned | |||||
| 16 | PMM2 | AR | Case16E1 | 5 / B | WT | WT | / | Unaff. | Norm. | High | Fail | Alt. | Frozen | |
| Case16E2 | 5 / B | WT | Het. | / | Unaff. | Abn. | Low | Fail | Alt. | Frozen | ||||
| 17 | BRCA2 | AD | Case17E1 | 3 / A | – | Het. | – | Het. | Aff. | Norm. | High | Fail | No | Abandoned |
| Case17E2 | 5 / A | – | WT | – | WT | Unaff. | Norm. | High | Fail | Alt. | Implantation failure | |||
| Case17E3 | 3 / A | – | Het. | – | Het. | Aff. | Abn. | High | Fail | No | Abandoned | |||
| 18 | ATXN3 | AD | Case18E1 | 2 / C | – | Het. | – | Het. | Aff. | Norm. | Low | Success | No | Abandoned |
| Case18E2 | 2 / C | – | Het. | – | Het. | Aff. | Abn. | High | Fail | No | Abandoned | |||
| Case18E3 | 4 / C | – | Het. | – | Het. | Aff. | Norm. | High | Fail | No | Abandoned | |||
| Case18E4 | 5 / A | – | Het. | – | Het. | Aff. | Abn. | High | Fail | No | Abandoned | |||
| 19 | ALPL | AR | Case19E1 | 4 / B | WT | Het. | / | Unaff. | Norm. | High | Fail | Alt. | Frozen | |
| Case19E2 | 3 / A | Het. | Het. | / | Aff. | Norm. | High | Fail | No | Abandoned | ||||
| Case19E3 | 4 / B | WT | WT | / | Unaff. | Norm. | High | Fail | Alt. | Frozen | ||||
| Case19E4 | 3 / B | WT | Het. | / | Unaff. | Norm. | High | Fail | Alt. | Frozen | ||||
| 20 | BRCA2 | AD | Case20E1 | 4 / C | WT (ADO) | – | Het. | – | Aff. | Norm. | High | Fail | No | Abandoned |
| Case20E2 | 5 / C | Het. | – | Het. | – | Aff. | Abn. | High | Fail | No | Abandoned | |||
| 21 | HPRT1 | XLR | Case21E1 | 5 / C | WT | – | / | Unaff. | Abn. | Low | Fail | Alt. | Frozen | |
| 22 | SERAC1 | AR | Case22E1 | 4 / B | Het. | Het. | / | Aff. | Abn. | High | Fail | No | Abandoned | |
| Case22E2 | 3 / B | WT | Failure | / | Unaff. | Abn. | High | Fail | Alt. | Implantation failure | ||||
| Case22E3 | 5 / B | WT | WT | / | Unaff. | Norm. | Low | Success | Recom. | Frozen | ||||
| Case22E4 | 5 / A | WT | WT | / | Unaff. | Abn. | Low | Fail | Alt. | Frozen | ||||
| 23 | HPDL | AR | Case23E1 | 4 / C | WT | Het. | WT | Het. | Unaff. | Norm. | Low | Success | Recom. | Frozen |
| Case23E2 | 4 / A | WT | WT | WT | WT | Unaff. | Norm. | Low | Success | Recom. | Implantation failure | |||
| Case23E3 | 2 / B | Het. | Het. | Het. | Het. | Aff. | Abn. | Low | Fail | No | Abandoned | |||
| Case23E4 | 5 / B | WT | WT | WT | WT | Unaff. | Abn. | Low | Fail | Alt. | Frozen | |||
| 24 | MSH6 | AD | Case24E1 | 4 / A | Het. | – | Het. | – | Aff. | Norm. | Low | Success | No | Abandoned |
| Case24E2 | 5 / A | WT | – | WT | – | Unaff. | Norm. | Low | Success | Recom. | Frozen | |||
| 25 | EXT1 | AD | Case25E1 | 4 / C | – | WT (ADO) | / | Aff. | Abn. | Low | Fail | No | Abandoned | |
| Case25E2 | 3 / A | – | WT | / | Unaff. | Norm. | High | Fail | Alt. | Frozen | ||||
| Pat. (MLH1) | Pat. (MSH2) | |||||||||||||
| 26 | MLH1 | AD | Case26E1 | 5 / B | WT | Het. | / | Aff. | Abn. | High | Fail | No | Abandoned | |
| MSH2 | Case26E2 | 5 / A | WT | Het. | / | Aff. | Norm. | Low | Success | No | Abandoned | |||
| Case26E3 | 5 / B | WT | WT | / | Unaff. | Norm. | Low | Success | Recom. | Frozen | ||||
Abbreviations: AR, autosomal recessive; AD, autosomal dominant; XLR, X‐linked recessive; Mat., maternal; Pat., paternal; Het., heterozygote; Homo., homozygote; WT, wild‐type; ADO, allele‐dropout; /, families without performing WES. Null, no prediction results due to low quality of RNA‐seq data. A, represents integral cells with abundant content; B, represents vacuolated cells; C, represents cell fragment; Chr., chromosome; exp., expression; Aff., affected (for AR cases, only embryos carrying both parental mutations are referred to as “affected”); Unaff., unaffected; Norm., normal; Abn., abnormal; Recom., recommendation; Alt., alternative.