Case report: Optical genome mapping revealed double rearrangements in a male undergoing preimplantation genetic testing

Jun Ren; Yuezhi Keqie; Yutong Li; Lingping Li; Min Luo; Meng Gao; Cuiting Peng; Han Chen; Ting Hu; Xinlian Chen; Shanling Liu

doi:10.3389/fgene.2023.1132404

Case report: Optical genome mapping revealed double rearrangements in a male undergoing preimplantation genetic testing

Front Genet. 2023 Mar 31:14:1132404. doi: 10.3389/fgene.2023.1132404. eCollection 2023.

Authors

Jun Ren^{1

2

3}, Yuezhi Keqie^{1

2

3}, Yutong Li^{1

2

3}, Lingping Li^{1

2

3}, Min Luo^{1

2

3}, Meng Gao^{1

2

3}, Cuiting Peng^{1

2

3}, Han Chen^{1

2

3}, Ting Hu^{1

2

3}, Xinlian Chen^{1

2

3}, Shanling Liu^{1

2

3}

Affiliations

¹ Center of Prenatal Diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
² Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.
³ Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.

Abstract

Chromosome rearrangement is one of the main causes of abortion. In individuals with double chromosomal rearrangements, the abortion rate and the risk of producing abnormal chromosomal embryos are increased. In our study, preimplantation genetic testing for structural rearrangement (PGT-SR) was performed for a couple because of recurrent abortion and the karyotype of the male was 45, XY der (14; 15)(q10; q10). The PGT-SR result of the embryo in this in vitro fertilization (IVF) cycle showed microduplication and microdeletion at the terminals of chromosomes 3 and 11, respectively. Therefore, we speculated whether the couple might have a cryptic reciprocal translocation which was not detected by karyotyping. Then, optical genome mapping (OGM) was performed for this couple, and cryptic balanced chromosomal rearrangements were detected in the male. The OGM data were consistent with our hypothesis according to previous PGT results. Subsequently, this result was verified by fluorescence in situ hybridization (FISH) in metaphase. In conclusion, the male's karyotype was 45, XY, t(3; 11)(q28; p15.4), der(14; 15)(q10; q10). Compared with traditional karyotyping, chromosomal microarray, CNV-seq and FISH, OGM has significant advantages in detecting cryptic and balanced chromosomal rearrangements.

Keywords: FISH; PGT-SR; complex chromosome rearrangements; cryptic reciprocal translocation; optical genome mapping.

Publication types

Case Reports

Grants and funding

This study was supported by the National Key Research and Development Program of China (2021YFC1005303) and the Technology Research and Development Program of the Science and Technology, Sichuan Province, China (2021YFS0078).