A Healthy Live Birth After Successful Preimplantation Genetic Diagnosis for Carriers of Complex Chromosome Rearrangements

Objective: To report a live birth after successful preimplantation genetic diagnosis (PGD) for carriers of complex chromosomal rearrangements (CCRs) with translocation and deletion.

Design: Fluorescent in situ hybridization (FISH) was applied to PGD for CCR carriers.

Setting: University-based centers for reproductive medicine.

Patient(s): Three CCR carriers, patient A with 46,XX,t(6;10;8)(q25.1;q21.1;q21.1), patient B with 46,X,del(X)(p22.3),t(2;18)(q14.1;q21)[48]/45,X, t(2;18)(q14.1;q21)[12], and patient C with 46,XY,t(5;13;8)(q21.2;q14.3;q24.3).

Intervention(s): Balanced or normal embryos were diagnosed by PGD and transferred.

Main Outcome Measure(s): Diagnosis rate of FISH, pregnancy outcome, and karyotype of amniocentesis.

Result(s): Blastomeres were biopsied from 56 embryos in four PGD cycles, and 54 embryos (96.4%) were successfully diagnosed by FISH. Among them, four embryos were diagnosed as transferable in two cycles of patient B and one cycle of patient C. After three cycles of embryo transfer, a pregnancy was achieved in the second PGD cycle of patient B, and the karyotype of amniocentesis was 46,XY,t(2;18)(q14.1;q21). A healthy baby was delivered at 40 weeks of gestation by cesarean section.

Conclusion(s): This is the first report for a live birth after PGD in the CCR carriers associated with translocation and deletion, 46,X,del(X)(p22.3),t(2;18)(q14.1;q21)[48]/45,X,t(2;18)(q14.1;q21)[12]. Preimplantation genetic diagnosis for CCRs needs more consideration and advanced techniques for full karyotyping.