Preimplantation genetic diagnosis for complex chromosome rearrangements

摘要: Complex chromosome rearrangements (CCR) are structural that involve more than two breakpoints. The most common ones three chromosomes and breakpoints, but double translocations can also occur. Theoretically, the potential for imbalance in gametes of CCR carriers is higher simple translocations, thus they at an even risk recurrent miscarriage. Preimplantation genetic diagnosis (PGD) has been shown to significantly reduce repeated pregnancy loss translocation carriers, it well indicated CCR. Here we describe different approaches PGD CCRs. After five couples CCR, only 6.4% embryos were found normal or balanced, transfer these six into four couples, resulted pregnancies, one with non-identical twins, other a balanced karyotype. Thus implantation rate was 50%, per retrieval 40%, 0% spontaneous abortions unbalanced offspring. This compares favorably prior history abortions, offspring, low fertility.