胚胎植入前遗传学检测技术在环状染色体携带者助孕中的应用价值

Diagnostic value of preimplantation genetic testing for carrier with ring chromosomes

目的探讨胚胎植入前遗传学检测技术(PGT)在环状染色体携带者助孕中的临床诊断价值。方法对山东大学附属生殖医院1例外周血核型检测为22号环状染色体的患者用基于二代测序(NGS)的PGT助孕,选择植入未见异常的胚胎,产前诊断确认子代染色体。结果该患者共进行2个促排卵周期,共有5枚胚胎进行PGT检测,其中3枚胚胎诊断为非整倍体,2枚胚胎未见异常;选择植入未见异常的胚胎后获得活产,表型正常;产前羊水穿刺结果为46,XN,r(22)(p11.2q13)。结论环状染色体携带者胚胎非整倍体率增加,PGT检测后可排除非整倍体胚胎,获得正常子代,但PGT技术目前无法阻断环状染色体遗传给子代。

Objective To explore the clinical diagnostic value of preimplantation genetic testing(PGT) for the families with ring chromosome carriers. Methods A patient with ring chromosome 22 in peripheral blood karyotype detected in the Affiliated Reproduction Hospital of Shandong University was assisted with PGT based on the next generation sequencing(NGS). The selected embryos without abnormal karyotype were implanted, and the progeny chromosome was confirmed by prenatal examination. Results The patient underwent 2 ovulation induction cycles, and 5 embryos were tested by PGT, among which 3 embryos were diagnosed as aneuploidy and 2 embryos showed no abnormality. Live birth was obtained after implantation of the embryos with normal phenotype. The results of prenatal amniocentesis were 46, XN, r(22)(p11.2 q13). Conclusion The rate of aneuploidy may increase in the embryos of carriers with ring chromosomes. The aneuploidy embryos can be excluded by PGT detection and normal progeny could be obtained. However, the inheritance of annular chromosomes to progeny could not be blocked by current PGT technology.