Background Balanced translocation carriers are burdened with fertility issues due to improper chromosome segregation in gametes, resulting in either implantation failure, miscarriage or birth of a child with chromosomal disorders. At the same time, these individuals are typically healthy with no signs of developmental problems, hence they often are unaware of their condition. Yet, because of difficulties in conceiving, balanced translocation carriers often turn to assisted reproduction, some of whom may also undergo preimplantation genetic testing for aneuploidy (PGT-A) to improve the likelihood of achieving a successful pregnancy. Case report We describe a female patient, who pursued in vitro fertilization (IVF) treatment coupled with PGT-A following two consecutive miscarriages, unaware of her genetic condition. PGT-A was performed on blastocyst-stage embryos and the results of comprehensive chromosome screening from a first IVF cycle demonstrated reciprocal segmental aberrations on chromosome 7 and chromosome 10 in two out of four embryos. Due to distinct embryo profiles, the couple was then referred for genetic counselling and subsequent parental karyotyping revealed the presence of a previously undetected balanced translocation in the mother. Conclusions These results confirm previous reports that genome-wide PGT-A can facilitate the identification of balanced translocation carriers in IVF patients, providing explanation for poor reproductive outcome and allowing adjustments in treatment strategies.

中文翻译：

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通过滋养外胚层活检分析检测平衡易位载体：病例报告。

背景平衡易位携带者由于配子中不正确的染色体分离而背负着生育问题，导致着床失败、流产或患有染色体疾病的孩子的出生。同时，这些人通常很健康，没有发育问题的迹象，因此他们通常不知道自己的状况。然而，由于受孕困难，平衡易位携带者经常求助于辅助生殖，其中一些人还可能接受非整倍体植入前基因检测 (PGT-A) 以提高成功怀孕的可能性。病例报告 我们描述了一名女性患者，她在连续两次流产后接受体外受精 (IVF) 治疗和 PGT-A，但不知道她的遗传状况。PGT-A 是在囊胚期胚胎上进行的，第一个 IVF 周期的综合染色体筛查结果表明，四个胚胎中有两个在 7 号和 10 号染色体上存在相互节段性畸变。由于不同的胚胎特征，这对夫妇随后被转介进行遗传咨询，随后的父母核型分析显示，母亲体内存在以前未检测到的平衡易位。结论 这些结果证实了先前的报道，即全基因组 PGT-A 可以促进 IVF 患者中平衡易位携带者的鉴定，为不良生殖结果提供解释并允许调整治疗策略。