Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Identification of unbalanced complex chromosomal rearrangements in IVF-derived embryos during NGS analysis of preimplantation genetic testing: A case report

  • Yu, Eun Jeong (Department of Obstetrics and Gynecology, CHA Fertility Center Seoul Station, CHA University School of Medicine) ;
  • Kim, Min Jee (Laboratory of Reproductive Genetics, CHA Biotech Seoul Station) ;
  • Park, Eun A (Fertility Laboratory, CHA Fertility Center Seoul Station) ;
  • Hong, Ye Seul (Laboratory of Reproductive Genetics, CHA Biotech Seoul Station) ;
  • Park, Sun Ok (Laboratory of Reproductive Genetics, CHA Biotech Seoul Station) ;
  • Park, Sang-Hee (Genetic Laboratory, CHA Fertility Center Gangnam) ;
  • Lee, Yu Bin (Department of Obstetrics and Gynecology, CHA Fertility Center Seoul Station, CHA University School of Medicine) ;
  • Yoon, Tae Ki (Department of Obstetrics and Gynecology, CHA Fertility Center Seoul Station, CHA University School of Medicine) ;
  • Kang, Inn Soo (Department of Obstetrics and Gynecology, CHA Fertility Center Daegu, CHA University School of Medicine)
  • Received : 2021.11.16
  • Accepted : 2022.05.08
  • Published : 2022.06.30
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Abstract

Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient's karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

Keywords

References

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