One healthy live birth after preimplantation genetic testing of a cryptic balanced translocation (9;13) in a family with cerebral palsy and glaucoma: a case report

Abstract

Background Cryptic balanced translocations often evade detection by conventional cytogenetics. The preimplantation genetic testing (PGT) technique can be used to help carriers of balanced translocations give birth to healthy offspring; however, for carriers of cryptic balanced translocations, there is only one report about trying assisted reproduction using the PGT technique but with no pregnancy. Case presentation A couple had 3 births out of 4 pregnancies, and all died very young, with two of them having both cerebral palsy and glaucoma. The husband with oligoasthenospermia was found to be a cryptic balanced translocation carrier for t (9,13) (p24.3, q31.3) with G-banding, FISH (fluorescence in-situ hybridization), and MicroSeq techniques; live birth of a healthy baby girl was achieved with PGT/NGS (next-generation sequencing) for the couple. Conclusion Here, we report for the first time a successful live birth of a healthy baby through the PGT technique for a family in which the husband is a carrier of the cryptic balanced translocation t (9,13) (p24.3, q31.3), presumably causative for cerebral palsy and glaucoma. Our study showed that the PGT/NGS technique can effectively help families with a cryptic balanced translocation have healthy offspring.

An Incidental Detection of a Cryptic Complex Chromosome Rearrangement Found During NGS Based PGT-SR: A Case Report

“…A limited number of cases of PGT for carriers of CCRs were reported. Some of the cases were analyzed by FISH technique (16,17), but with the development of NGS technologies, the number of PGD cases analyzed by NGS is increasing (15,(18)(19)(20). FISH, array CGH, and NGS methods are commonly used for PGT-SR studies.…”

Identification and interruption of inheritance of familial cryptic translocations: A case report

“…Although it is difficult to identify cryptic translocations during conventional peripheral blood karyotyping, unbalanced outcomes that reflect translocations can be detected via amniocentesis or analysis of chorionic villi or embryos (Chau et al., 2019 ; Wang et al., 2021 ); meiotic segregation of each type of translocation leads to characteristic outcomes (Zhang et al., 2018 ). Of all the possible gametes, only two (the results of alternate segregation) yielded normal (balanced) chromosomes.…”