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| Clinical value of application of high-throughput sequencing technology in prenatal diagnosis |
| Harbin Red Cross Centre Hospital, Heilongjiang Province, 150076 |
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Abstract Objective: To explore the application value of high-throughput sequencing technology (HTST) in prenatal diagnosis. Methods: 244 women with prenatal diagnosis indications who had been performed conventional karyotype analysis and HTST were selected in this study. The rate of chromosomal abnormalities detected and fetal outcome were analyzed and compared between the two methods. Results: The number of fetal chromosomal abnormalities by karyotype analysis accounted for 8.9% (20/244) and the chromosomal structural abnormalities (chromosome inversion or translocation) of fetus accounted for 9.8% (24/244). And the rate of fetal chromosomal abnormalities by HTST was 11.9% (29/244), which included 56.2% (137/244) fetus with polymorphism and pathogenic ambiguous. In the fetus with chromosomal normality by karyotype analysis, there was 2.6% fetus with chromosome microdeletion or microduplication by HTST. Conclusion: The diagnostic consistency of fetus with abnormal chromosome copy number by HTST has the same as that by chromosome karyotype analysis, and the HTST can detect microdeletion or microduplication more than 100 KB. Chromosome karyotype analysis combined with HTST can find more fetuses with chromosomal aberrations, which have some clinical application value in prenatal diagnosis, and can provide evidence for researching the pathogenesis of fetal chromosomal microdeletion or microduplication syndrome.
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