CNV-seq技术在辅助生殖技术妊娠流产胚胎染色体异常中的研究价值

Research value of CNV-seq technology in chromosomal abnormalities of assisted reproductive technology pregnancy abortion embryos

目的分析低深度全基因组测序技术(CNV-seq)在辅助生殖技术(ART)妊娠流产胚胎染色体异常中的研究价值。方法选定南阳市第一人民医院2020年6月至2022年6月接诊的98例ART妊娠流产患者,采集所有患者流产物100 mg,以CNV-seq技术检测胚胎染色体情况,同时进行染色体G显带核型分析,比较CNV-seq检查结果与核型检查结果,分析孕妇既往流产次数、孕周、年龄与染色体异常发生率的关系。结果98例患者共检出染色体异常70例,染色体异常率为71.43%,以常染色体重排或缺失、45,X染色体异常最为常见,异常率为14.29%。其次是10三体,占12.86%;13三体,占11.43%;47,XYY,占10.00%;21三体,占10.00%;3三体,占8.57%;2三体,占5.71%;22三体,占4.29%;16三体,占2.86%;8三体,占2.86%;47,XXX,占2.86%。染色体异常发生率自然流产次数≥3次者(90.00%)高于自然流产次数<3次者(66.67%)(P<0.05)。孕周≥12周者染色体异常发生率(57.14%)低于孕周<12周者(82.14%)(P<0.05)。染色体异常发生率年龄≥35岁者(82.50%)高于年龄<35岁者(63.79%)(P<0.05)。结论CNV-seq在ART妊娠流产诊断中具有较高的临床价值,可明确染色体异常类型,辅助临床对患者遗传学病因作出诊断。且ART妊娠流产多发生于孕早期,随着孕妇年龄增大、流产次数增多,染色体异常发生率会明显增高。

【Objective】To analyze the research value of low-depth whole-genome sequencing(CNV-seq)in chromosomal abnormalities in assisted reproductive technology(ART)pregnancy abortion embryos.【Methods】A total of 98 patients with ART pregnancy abortion admitted to our hospital from June 2020 to June 2022 were selected,and 100 mg of flow products were collected from all patients.The chromosomal status of embryos was detected by CNV-seq technology,and G-banding karyotype analysis was performed at the same time.The results of CNV-seq examination and karyotype examination were compared.The relationship between the number of previous miscarriages,gestational week,age and the incidence of chromosomal abnormalities was analyzed.【Results】A total of 70 chromosomal abnormalities were detected in 98 patients,with a chromosomal abnormality rate of 71.43%.Autosomal rearrangement or deletion and 45,X chromosome abnormalities were the most common,with an abnormal rate of 14.29%.Followed by trisomy 10,accounting for 12.86%;trisomy 13,accounting for 11.43%;47,XYY,accounting for 10.00%;trisomy 21,accounting for 10.00%;trisomy 3,accounting for 8.57%;trisomy 2,accounting for 5.71%;trisomy 22,accounting for 4.29%;trisomy 16,accounting for 2.86%;47,XXX,accounting for 2.86%.The incidence of chromosomal abnormality was higher in those with≥3 spontaneous abortions(90.00%)than in those with less than 3 spontaneous abortions(66.67%),P<0.05.The incidence of chromosomal abnormalities(57.14%)in women with gestational week≥12 weeks was lower than that in women with gestational week less than 12 weeks(82.14%),P<0.05.The incidence of chromosomal abnormalities was higher in those aged≥35 years(82.50%)than those aged<35 years(63.79%),P<0.05.【Conclusion】CNV-seq has high clinical value in the diagnosis of ART pregnancy and miscarriage.It can identify the type of chromosomal abnormality and assist in the clinical diagnosis of the genetic etiology of patients.And ART pregnancy miscarriage mostly occurs in the first trimester,with the increase of maternal age and the increase in the number of miscarriages,the incidence of chromosomal abnormalities will increase significantly.