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中华产科急救电子杂志 ›› 2019, Vol. 08 ›› Issue (03) : 174 -178. doi: 10.3877/cma.j.issn.2095-3259.2019.03.011

所属专题: 文献

论著

拷贝数变异测序在染色体易位夫妇植入前遗传学诊断中的临床应用
卢建1, 梁杰1, 袁腾龙1, 黄伟伟1, 何天文1, 陈创奇2, 董云巧2, 尹爱华1,()   
  1. 1. 511400 广州,广东省妇幼保健院医学遗传中心
    2. 511400 广州,广东省妇幼保健院生殖健康与不孕症科
  • 收稿日期:2019-04-03 出版日期:2019-08-18
  • 通信作者: 尹爱华

Clinical application of high-throughput sequencing technology in pre-implantation genetic diagnosis for chromosomal translocations

Jian Lu1, Jie Liang1, Tonglong Yuan1, Weiwei Huang1, Tianwen He1, Chuangqi Chen2, Yunqiao Dong2, Aihua Yin1,()   

  1. 1. Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou 511400, China
    2. Reproductive Health & Infertility Clinics, Guangdong Women and Children Hospital, Guangzhou 511400, China
  • Received:2019-04-03 Published:2019-08-18
  • Corresponding author: Aihua Yin
  • About author:
    Corresponding auther: Yin Aihua, Email:
引用本文:

卢建, 梁杰, 袁腾龙, 黄伟伟, 何天文, 陈创奇, 董云巧, 尹爱华. 拷贝数变异测序在染色体易位夫妇植入前遗传学诊断中的临床应用[J]. 中华产科急救电子杂志, 2019, 08(03): 174-178.

Jian Lu, Jie Liang, Tonglong Yuan, Weiwei Huang, Tianwen He, Chuangqi Chen, Yunqiao Dong, Aihua Yin. Clinical application of high-throughput sequencing technology in pre-implantation genetic diagnosis for chromosomal translocations[J]. Chinese Journal of Obstetric Emergency(Electronic Edition), 2019, 08(03): 174-178.

目的

探讨拷贝数变异测序(copy number variation sequencing, CNV-seq)用于染色体易位夫妇胚胎植入前诊断的应用价值。

方法

回顾性分析2017年1月至2018年12月,在广东省妇幼保健院生殖健康与不孕症科进行植入前遗传学诊断(preimplantation genetic diagnosis,PGD)的211对染色体易位夫妇患者的临床病例。使用CNV-seq对胚胎染色体进行检测,并对患者一般信息和PGD结果进行分析。

结果

1210个胚胎中,被检出837个(79.2%)胚胎存在染色体异常,373个(30.8%)胚胎为整倍体。在241个PGD周期中,68个(27.6%)周期所有胚胎均存在染色体异常,178个(72.4%)周期至少含有一个整倍体胚胎。在176个移植周期中,130个(73.9%)确定临床妊娠,已出生46个健康婴儿,12例发生早期流产。

结论

CNV-seq可准确地区分胚胎染色体是否存在异常,避免因胚胎含有染色体异常而被移植,是一种可靠而准确的PGD技术。

Objective

To explore the application value of copy number variation sequencing (CNV-seq) in preimplantation diagnosis (PGD) of chromosomal translocation couples.

Methods

The clinical cases of 211 pairs of chromosomal translocation couples presented for PGD were analyzed retrospectively, from January 2017 to December 2018. CNV-seq was used to detect the chromosome of embryo, and the general information of patients and PGD results were analyzed.

Results

Among the 1210 embryos, 837 cases (79.2%) were found to have chromosomal abnormalities, and 373 cases (30.8%) were aneuploid. In 241 PGD cycles, 68 cycles (27.6%) had chromosomal abnormalities, 178 cycles (72.4%) had at least one aneuploid embryo. In 176 transplantation cycles, 130 pregnant women (73.9%) confirmed clinical pregnancy, 46 healthy infants had been born, and 12 cases had early abortion.

Conclusion

CNV-seq is a reliable and accurate PGD technology, which can distinguish the chromosomal abnormalities of embryos clearly and avoid the transplantation of embryos containing chromosomal abnormalities.

表1 1210例胚胎PGD结果分类
图1 两例易位夫妇CNV-seq检测结果。a男方为t(10:11)(p15:q21)相互易位携带者,胚胎检出10p末端9.6Mb缺失(1个拷贝)和11q末端47.2Mb重复(3个拷贝)。b女方为der(14:15)(q10:q10)罗伯逊易位携带者,胚胎检出14三体(3个拷贝)
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