Application of High-Throughput Ligation-Dependent Probe Amplification (HLPA) Detection in Karyotype Analysis of Spontaneous Abortion Pregnancy Tissues

Lijuan Wu, Ziyang Yu, Li Yang, Hong Shen, Lifeng Deng, Liping Xiang, Lingyun Zhu and Hong Zhang

Background and Objective: Spontaneous abortion is one of the most common pregnancy diseases and seriously affects women's reproductive health. To investigate the relationship between spontaneous abortion and chromosomal abnormality of pregnancy tissues, the karyotype of aborted pregnancy tissues was analyzed by using high-throughput ligation-dependent probe amplification (HLPA). Materials and Methods: About 159 patients with spontaneous abortion were used as research subjects. The villi of all patients were detected by fluorescence in situ hybridization (FISH) and the distribution of normal and abnormal chromosomes was confirmed. Chromosome examination was performed by HLPA technique and karyotype analysis. The sensitivity and specificity of HLPA and karyotype analysis were compared and the karyotype of aborted pregnancy tissues was analyzed by the HLPA technique. Results: The abnormal rate of chromosomes detected by HLPA was higher than that by karyotype analysis (54.09 vs. 38.36%) and the difference was statistically significant (p<0.05). The sensitivity and specificity of HLPA detection were better than those of karyotype analysis (sensitivity: 84.95 vs 77.42%, specificity: 89.39 vs. 86.36%). The abnormal rate of chromosome number, structure and single diploid detected by HLPA was 88.37, 10.47 and 1.16%, respectively. Among the abnormal chromosome numbers, trisomy 16 (27.63%), triploid (21.05%) and 45XO (13.16%) are the top three. The older the age, the higher the abnormal rate of embryo chromosome, The greater the gestational age of abortion, the lower the abnormal rate of embryo chromosome. Conclusion: HLPA has high flux, sensitivity, specificity and accuracy in karyotype analysis of spontaneous abortion pregnancy, which is worthy of popularization and application in clinics.

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