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

doi:10.3877/cma.j.issn.2095-3259.2019.03.011

Abstract

Abstract:

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.

Key words: DNA Copy number variations, Preimplantation diagnosis, High-throughput sequencing

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.

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References 31

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胚胎PGD结果分类		例数	胚胎例数(%)
胚胎PGD结果分类		例数	罗伯逊易位	相互易位
平衡整倍体		373	102(41.6)	271(28.1)
非平衡整倍体		?	?	?
?	目标染色体异常±其他异常^*	578	62(25.3)	516(53.5)
?	目标染色体正常＋其他异常^#	259	81(33.1)	178(18.4)
总计		1210	245	965

胚胎PGD结果分类		例数	胚胎例数(%)
胚胎PGD结果分类		例数	罗伯逊易位	相互易位
平衡整倍体		373	102(41.6)	271(28.1)
非平衡整倍体		?	?	?
?	目标染色体异常±其他异常^*	578	62(25.3)	516(53.5)
?	目标染色体正常＋其他异常^#	259	81(33.1)	178(18.4)
总计		1210	245	965

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