Abstract: Objective: To investigate the application of next generation sequencing in testing the chromosome abnormalities of spontaneous abortion villus. Methods: Thirty-nine villi samples of spontaneous abortion were extracted for the high-throughput sequencing from March 2018 to March 2019. The classical karyotype analysis was used as the control of high-throughput sequencing. Results: In classical karyotype analysis, chromosome abnormalities were found in 21 cases (53.85%), no obvious abnormality in 14 cases (35.90%), and testing failure occurred in 4 cases (10.26%). Among the 21 chromosome abnormalities, there were 11 aneuploid cases (52.38%), 5 monomer cases (23.81%), 3 tetrasomia cases (14.29%), and 2 cases of chromosome structural abnormalities (9.52%). In the high-throughput sequencing, chromosome abnormalities were found in 25 cases (64.10%), and no obvious chromosome abnormality in 14 cases (35.90%). In those 14 cases, there were 1 trisomy chimera and 2 copy number variations (CNVs). One case of CNVs was found in 4 testing failures. There was no significant difference in the detection rate between the two methods (χ2=2.250, P=0.134). Conclusions: The high-throughput sequencing is an efficient method to clarify the genetic factors of spontaneous abortion. As a powerful supplement for classical karyotype analysis, it is worthy of clinical promotion and wide application.

Key words: Abortion, spontaneous, High-throughput nucleotide sequencing, Genomics, Chorionic villi sampling, Chromosome aberrations, Genomic structural variation