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Application of next generation sequencing for preimplantation genetic test of 71 couples with one partner carrying a reciprocal or Robertsonian translocation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 563-566, 2020.
Article in Chinese | WPRIM | ID: wpr-826532
ABSTRACT
OBJECTIVE@#To assess the value of preimplantation genetic test (PGT) based on next generation sequencing (NGS) for achieving pregnancy for 71 couples with one partner carrying a reciprocal or Robertsonian translocation.@*METHODS@#Following blastocyst biopsy, whole genome of single cell was amplified, and PGT was performed by NGS. The subjects included 60 couples with one partner carrying a reciprocal translocation and 11 with one partner carrying a Robertsonian translocation. The results of PGT, implantation and prenatal diagnosis for all of the couples were analyzed.@*RESULTS@#In total 301 embryos were obtained for the 71 couples through 92 ovulation cycles, 287 (95.3%) of which were successfully diagnosed by NGS. Eighty-five euploidy embryos were identified for the reciprocal translocation carrier group. In 18 cycles, no euploid embryo was obtained. Cancellation rate for the cycles was 19.5%. For reciprocal translocation carrier group and Robertsonian translocation carrier group, the rates for implantation, early abortion, and clinical pregnancy were 89.3% (42/47), 25.5% (12/47), 63.8% (30/47), and 88.8% (8/9), 22.2% (2/9), and 66.6% (6/9), respectively. The result of prenatal diagnosis was consistent with the that of PGT.@*CONCLUSION@#PGT based on NGS can effectively identify euploid embryos and reduce recurrent abortions and termination of pregnancies, achieving a satisfactory rate for clinical pregnancy.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Translocation, Genetic / Fertilization in Vitro / Genetic Testing / Preimplantation Diagnosis / High-Throughput Nucleotide Sequencing / Methods Type of study: Diagnostic study Limits: Female / Humans / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2020 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Translocation, Genetic / Fertilization in Vitro / Genetic Testing / Preimplantation Diagnosis / High-Throughput Nucleotide Sequencing / Methods Type of study: Diagnostic study Limits: Female / Humans / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2020 Type: Article