Preimplantation genetic testing for complex chromosomal rearrangement carriers by next-generation sequencing.

RESEARCH QUESTION: Can preimplantation genetic testing (PGT) with next-generation sequencing (NGS) increase the chance of achieving a balanced euploid pregnancy in complex chromosome rearrangement (CCR) carriers?

DESIGN

Six couples underwent PGT at the Clinical Centre of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University. The CCR carriers in the six couples were: Case A: 46,XY,t(1;4;11)(p31;p16;q22); Case B: 46,XY,t(3;13;5)(p14;q21;p14); Case C: 46,XX,t(6;11;21)(q21;q21;q13); Case D: 46,XX,inv(9)(p12; q13),t(13;15)(q14;q24); Case E: 46,XX,inv(9)(p12;q13),t(7;9)(q22;p22); and Case F: 46,XX,t(2;7)(q21;q36),t(2;4)(p10;q10),t(2;4)(q15;q10). After ovarian stimulation followed by oocyte retrieval and embryo culture, PGT was performed on day 5 or 6 blastocyst biopsies using NGS to identify normal/balanced euploid embryos. Vitrified-warmed single embryo transfers were performed using normal/balanced euploid embryos.

RESULTS

After seven cycles, 84 oocytes were retrieved. Whole genome sequencing by NGS was performed on 25 trophectoderm biosies. Six (24%) embryos were identified as normal/balanced euploid, four were transferred resulting in four live births. Case A, C, D and E each gave birth to a healthy baby after their first cycle. There was no transferable embryo after two cycles for Case B and one cycle for Case F. The implantation rate per transfer was 4/4 and the live birth rate was 4/4.

CONCLUSION

These results strongly support the use of NGS for CCR carriers.