Preimplantation genetic testing of 46,XY,t(1;18;9)(p34.1;q12.2;q32)with complex chromosome rearrangement carrier
Objective To detect the availability of the preimplantation genetic testing(PGT)in carriers of complex chromosome rearrangements(CCRs)for assisting reproduction.Methods A couple with CCRs was treated by controlled hyperstimulation,intracytoplasmic sperm injection,blastocyst biopsy and next generation sequencing(NGS)for PGT assisting reproduction.Results The couple underwent 1 PGT cycle,27 oocytes were obtained and 7 blastocysts were suitable for biopsy.NGS showed that there were 3 normal/balanced blastocysts and 4 abnormal blastocysts in the detection range.One normal/balanced blastocyst was used in frozen-thawed embryo transfer.Then the pregnancy was successful,and a male child was born at term.The fetal chromosome examination showed 46,XY with normal karyotype.Conclusion CCRs carriers have a high abnormal gamete rate and a high risk of miscarriage.PGT can screen embryos and reduce the risk of spontaneous miscarriage,which is a strategy to assist the treatment of fertility problems in CCRs carriers.
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