Multiplex DNA Copy Number Detection, Chromosomal Microarray Analysis And High-throughput Sequencing Technology Were Used To Detect The Chromosomes Of Abortive Villi

Objective TO compare abnormal rate of Multiplex DNA Copy Number Detection technology(CNVplex),Chromosomal Microarray Analysis(CMA)and Next Generation Sequencing(NGS)used for analysis spontaneously abortion villus.Discuss the advantages and limitations of these three methods for detecting abortion villus chromosomes.Provide experimental data for selecting methods for detecting abortion villus chromosomes.MethodsCollect 943 patients who were diagnosed with spontaneous abortion at the Reproductive Center of Suzhou Municipal Hospital from September 7,2015 to March 28,2018.In the case of informed consent,the chromosomes of the abortion villi were examined and the basic conditions of the patients were recorded.Using CNVplex to detect abortion villi samples in 745 spontaneous abortion patients,using CMA for 88 spontaneous abortion patients,and using NGS for 99 patients.Compare the differences in the rates of chromosomal abnormalities among the three methods.Applicating SPSS25.0 to do statistical analysis and p<0.05 has statistical significance.Results1.CNVplex was used to detect abortion villi samples in 745 spontaneous abortion patients,347 cases of chromosome abnormalities were detected,accounting for46.58%.The abnormalities included 283 autosomal abnormalities,accounting for81.56%,267 cases were aneuploidy,15 cases were structural variation and 1 case was mosaic among them.Trisomy 16 was the most common aneuploidy,accounting for23.34%.48 cases were sex chromosome abnormalities,accounting for 14.86%.There were 11 cases of abnormal sex chromosomes and autosomes.In addition,five cases of triploid abnormalities were also detected.2.CMA was used to detect abortion villi samples in 88 spontaneous abortion patients.Chromosomal abnormalities were detected in 51 cases,accounting for 57.95%.36 cases were with autosomal abnormalities,accounting for 70.59%,there were 23 cases of aneuploidy abnormality,8 cases of mosaicism,5 cases of CNV among them.There were 8 cases of triploid abnormalities and 5 cases of sex chromosome abnormalities,including 3 cases of aneuploidy,1 case of mosaicism,and 1 case of microdeletion.Also there was included one case of sex chromosome and autosomal abnormality,was dup(X)and dup(4).In addition,one case of uniparental disomy(UPD)was also detected.3.NGS was used to detect villus samples in 99 spontaneous abortion patients.58 cases of chromosome abnormalities were detected,accounting for 58.59%,including autosomal abnormalities in 44 cases,Among them,there were 34 cases of aneuploidy,9 cases of CNV,and 1 case of mosaicism.10 cases of sex chromosome abnormalities were detected,accounting for 17.24%,Among them,there were 9 aneuploidy,and 1mosaicism,also there were 4 triploid abnormalities.Conclusion1.Chorionic chromosomal aberration is the main cause of spontaneous abortion.Aneuploidy abnormality is the most common type of chromosomal abnormality in spontaneous abortion.2.CNVplex,CMA,and NGS have differences in the detection rate of chromosomal abnormalities,and NGS has the highest rate,but these three methods did not show significant differences in the abnormal detection rate of villous chromosome aneuploidy.3.The detection rates of CNV using CMA and NGS were higher than using CNVplex.4.In clinical work,it is important to select the appropriate test method based on the purpose of the test,the laboratory conditions,and the patient's wishes.