Comparison Of Three Different Genetic Analyses For Spontaneously Aborted Villus

ObjectiveTocompare detection success rate and abnormal rate of karyotype analysis technique, FISH and high-throughputsequencing technologies tobe used for analysis spontaneously abortion villus.To discuss the advantagesand limitations of the three methods. Methods Collecting the information of the couples with the history of spontaneous abortion who came to General Hospital of Tianjin Medical University from 2002 to 2015. Recording the age, gestational weeks,the chromosome of couples. From 2002 to 2010, using karyotype analysis technology to detect 53 cases of abortion villus samples. From 2010 to 2013, using Fish to detect 35 cases of abortion villus samples. From 2013 to 2015, using high-throughputsequencing technologies to detect 219 cases of abortion villus samples. Comparison of three methods to detect the success rate and abnormal karyotype detection rate.Applicating SPSS17.0 to do statistical analysis and p<0.05 has statistical significance. Results1.Using the chromosome karyotype analysis technology to detect 53 cases of abortion villus tissue, 41 cases were detected successfully, the detection success rate was 77.35%.Abnormal karyotype was detected in 18 cases, accounting for 43.90%.15 caseswere detected in autosome, accounting for 83.33%, including 12 cases of numerical abnormalities, 1 cases of a structural abnormalities, 1 cases of numerical and structural abnormalities, 1 cases ofChimera karyotype.Autosomal and sex chromosome were abnormal in 3 cases, accounting for 16.67%.Normal karyotype was detected in 23 cases, accounting for 56.10%.2.Using FISH to detect 13, 16, 18, 21, 22,and sex chromosomes in 35 cases of abortion, the successful rate was 100%. Abnormal karyotype was detected in 11 cases, accounting for 31.43%.4 cases of trisomy 21 syndrome, 2 cases of trisomy 18 syndrome, 1 cases of 47,XN,+16, 47,XN,+16,+22, 45,X/46,XYand sex chromosome abnormalities. Normal karyotype was detected in 24 cases, accounting for 68.57%.3.The use of high-throughput sequencing technology to detect 219 cases of abortion villus detected successfully in 194 cases, the success rate of detection is 88.58%.Abnormal karyotype was detected in 109 cases, accounting for56.19%.87 caseswere detected in autosome, accounting for 79.81%, including66 cases of numerical abnormalities, 17 cases of a structural abnormalities,4 cases ofChimera karyotype.Sex chromosome abnormal karyotype in 15 cases, accounting for 13.76%. Autosomal and sex chromosome were abnormal in 6 cases, accounting for 5.50%.The abnormal karyotype also included 1 cases of UPD. The detection of total structural abnormalities in 19 cases, accounting for 17.43%, missing or repetitive fragment size ranging from 0.22 mb to 104.90 mb, which is less than 10 mb accounted for 15 cases. There are 9 cases unknown pathogenicity chromosome fragment missing and repetition, accounting for 4.64%.Normal karyotype was detected in 76 cases, accounting for 39.18%.4.Statistical analysis was carried out on detect the success rate and abnormal karyotype detection rate between the three methods. The differences are statistical significance(χ2=10.49、8.28,p<0.05). Conclusion 1. FISH’s testing the success rate was the highest in the three methods, followed by high-throughput sequencing technologies, testing success rate of karyotype analysis technology was the lowest. 2.In the three methods, the highest abnormal karyotype detection rate was by high throughput sequencing technology, and there was no difference in the rate between chromosome l karyotype analysis and FISH. 3.High throughput sequencing technology in addition to detect autosome and sex chromosome abnormalities, but also detect 200 kb above the micro deletion and micro duplication.