Department of Reproductive Medicine, General Hospital of Northern Theater Command, Shenyang, China.
Peking Jabrehoo Med Tech Co., Ltd, Beijing, China.
BMC Med Genomics. 2021 Mar 17;14(1):82. doi: 10.1186/s12920-021-00938-7.
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.
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.
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.
隐匿性平衡易位常通过常规细胞遗传学检测方法逃避发现。胚胎植入前遗传学检测（PGT）技术可用于帮助平衡易位携带者生育健康后代；然而，对于隐匿性平衡易位携带者，仅有一篇关于尝试使用 PGT 技术辅助生殖但未怀孕的报道。
一对夫妇在 4 次妊娠中生育了 3 个孩子，他们都非常年轻就去世了，其中 2 个孩子既有脑瘫又有青光眼。寡精症的丈夫被发现是隐匿性平衡易位 t（9,13）（p24.3,q31.3）携带者，经 G 带、FISH（荧光原位杂交）和 MicroSeq 技术检测；夫妇二人通过 PGT/NGS（下一代测序）技术成功生育了一个健康的女婴。
本研究首次报道了一例丈夫为隐匿性平衡易位 t（9,13）（p24.3,q31.3）携带者的家庭通过 PGT 技术成功生育健康婴儿的病例，该易位可能导致脑瘫和青光眼。本研究表明，PGT/NGS 技术可有效帮助携带隐匿性平衡易位的家庭生育健康后代。
