Journal of Shandong University (Health Sciences) ›› 2023, Vol. 61 ›› Issue (4): 64-70.doi: 10.6040/j.issn.1671-7554.0.2022.1274

• 临床医学 • Previous Articles    

Two male CCRs carriers with assisted pregnancy and literature review

JIN Chenxi1,2,3, WANG Yufeng1,2,3, ZHANG Qian1,2,3, LI Jing1,2,3, LI Hongchang1,2,3, YAN Junhao1,2,3   

  1. 1. Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan 250001, Shandong, China;
    2. Shandong Provincial Clinical Medicine Research Center for Reproductive Health, Shandong University, Jinan 250001, Shandong, China;
    3. National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, Jinan 250021, Shandong, China
  • Published:2023-04-11

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Abstract: Objective To explore the appropriate means of assisted pregnancy in male complex chromosome rearrangements(CCRs)carriers. Methods Two male CCRs carriers underwent next-generation sequencing(NGS)based preimplantation genetic testing for structural rearrangement(PGT-SR). One of the couples underwent carrier screening to select non-carrier euploidy embryos. Results The two CCRs carrier couples were assisted in pregnancy by PGT-SR(one of them underwent carrier screening at the same time), obtained transferable embryos, and finally gave birth to healthy offspring. The embryo euploidy rate of the two carriers was 8.82%(3/34). Conclusion PGT-SR can effectively help CCRs carriers screen out transplantable euploidy embryos. Carrier screening technology can help carriers to select non-carrier euploidy embryos and block the progeny transmission of chromosomal genetic diseases.

Key words: Complex chromosome rearrangement, Preimplantation genetic testing, Carrier screening, Next-generation sequencing

CLC Number: 

  • R394.3
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