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.

Key Words: Complex chromosomal rearrangement, preimplantation genetic diagnosis, fluorescence in situ hybridization, delivery