OBJECTIVE: To explore the influence of gender of chromosomal translocation carriers on the occurrence of embryonic chromosomal aberrations. METHODS: A retrospective study was carried out. Data were collected from 235 couples carrying reciprocal translocations (1163 blastocysts) and 70 couples carrying Robertsonian translocations (351 blastocysts). The preimplantation genetic testing for structural rearrangement (PGT-SR) analysis of 1514 blastocysts were completed through next generation sequencing (NGS). RESULTS: After adjusting the confounding factors such as female age, AMH, ovarian stimulation regimen, and Gn dosage, the results showed that the risk for blastocyst chromosomal abnormalities was 0.41 [OR(95%CI), 1.41(1.06, 1.87), P < 0.05] times higher in female reciprocal translocation carriers and 1.02 [OR(95%CI), 2.02 (1.20, 3.40), P < 0.01] times higher in female Robertsonian translocation carriers compared with male carriers, respectively. Compared with male carriers, the risk of blastocyst chromosomal abnormalities was increased by 0.67 times [OR(95%CI), 1.67 (1.10, 2.56), P < 0.05] in female reciprocal translocation carriers over 30 years old and 1.06 times [OR(95%CI), 2.06 (1.02, 4.15), P = 0.0434, P < 0.05] in female Robertsonian translocation carriers between 25 and 30 years old. CONCLUSION Compared with male carriers, female carriers of reciprocal or Robertsonian translocations have a higher risk for producing embryos with chromosomal abnormalities, and their age may also be a risk factor.
Adult ; Blastocyst ; Chromosome Aberrations ; Female ; Genetic Testing/methods* ; Humans ; Male ; Pregnancy ; Preimplantation Diagnosis/methods* ; Retrospective Studies ; Translocation, Genetic

Objective:To explore the value of single molecule real time (SMRT) sequencing technology applied on preimplantation genetic testing (PGT) field to prevent the transmission of balanced chromosome-translocation to child.Methods:We performed whole genome sequencing to carrier of balanced chromosome-translocation among six couples with SMRT sequencing technology to identify the breakpoints and construct haplotype around the breakpoints in peripheral blood, and then choose healthy embryo for implantation after PGT in Center for Reproductive Medicine, Department of Gynecology & Obsterics, Tangdu Hospital, the Air Force Military Medical University from January to June in 2021.Results:With SMRT sequencing technology, we successfully identified breakpoint to single base level in six carriers of balanced chromosome-translocation recruited in this study. Finally, five couples recruited in this study obtained healthy embryo for implantation after PGT.Conclusion:SMRT sequencing technology can locate the breakpoints of balanced chromosome-translocation at single base level and prevent the transmission of the balanced chromosome-translocation to the offspring when combined with PGT.

Objective:To explore the value of single molecule real time (SMRT) sequencing technology applied on preimplantation genetic testing (PGT) field to prevent the transmission of balanced chromosome-translocation to child.Methods:We performed whole genome sequencing to carrier of balanced chromosome-translocation among six couples with SMRT sequencing technology to identify the breakpoints and construct haplotype around the breakpoints in peripheral blood, and then choose healthy embryo for implantation after PGT in Center for Reproductive Medicine, Department of Gynecology & Obsterics, Tangdu Hospital, the Air Force Military Medical University from January to June in 2021.Results:With SMRT sequencing technology, we successfully identified breakpoint to single base level in six carriers of balanced chromosome-translocation recruited in this study. Finally, five couples recruited in this study obtained healthy embryo for implantation after PGT.Conclusion:SMRT sequencing technology can locate the breakpoints of balanced chromosome-translocation at single base level and prevent the transmission of the balanced chromosome-translocation to the offspring when combined with PGT.