| Objective:To evaluate the clinical value of single nucleotide polymorphism microarray(SNP-array)and traditional G-band karyotype analysis in genetic diagnosis of spontaneous abortion,and to explore the practical advantages of SNP-array in order to provide the etiological evidence and guidance for patients with spontaneous abortion.Methods:A total of 82 patients with missed abortions were enrolled from January 2015 to January 2018.The tissues from aborted embryos were collected aseptically for SNP-array testing and G-band karyotype analysis after cell culture at same time.The genetic cause of spontaneous abortion were determined by analyzing synthetically from SNP-array and karyotype,in which the testing period,success rate and accuracy of the two methods were evaluated by SPSS18.0 software.Results:1.It took 3 to 4 days by SNP-array from 82 specimens while 12 to 20 days by traditional karyotype analysis,this showed less testing period by SNP-array.2.82 cases were detected by SNP-array with 100%(82/82)success rate,however,only 68 cases of aborted tissue were successfully cultured by traditional karyotype analysis with 82.9%(68/82)success rate with 14 cases failed.It meant higher success rate by SNP-array.3.The detecting results by traditional karyotype analysis showed that 34 cases(50.0%)among the 68 specimens were chromosomal aberration.Among these 34 cases,30 cases(88.2%)were numerical chromosomal abnormalities,2 cases(5.9%)were structural anomalies and 2 cases(5.9%)were numerical chromosomal abnormalities combined structural abnormalities.4.The detecting results by SNP-array showed that 42 cases(51.2%)were abnormal genomic copy number variation.Among these 42 cases,36 cases(85.7%)were numerical chromosomal abnormalities,5 cases(11.9%)were structural anomalies and 1 case(2.4%)was numerical chromosomal abnormalities combined structural anomalies.5.Among 68 cases with successful tissue culture,the detecting results showed 56 cases were completely consistent by two methods,with 11 cases inconsistent and 1 case incompletely consistent.6.Among 9 cases of chromosomal structural anomalies,3 cases were derived from mother,2 cases were from father,3 cases were de novo mutations,and 1 case was from father with part of structural anomalies and some de novo mutations after family verification.Conclusion:1.The abnormality of the embryonic chromosome was the main cause of spontaneous abortion.2.The detecting results showed the less testing period,higher success rate and diagnostic efficiency by SNP-array compared with traditional karyotype analysis.3.SNP-array could be used as an effective supplement to the genetics of spontaneous abortion. |
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