Application of next generation sequencing for the analysis of patients with spontaneous abortion / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To assess the value of next generation sequencing (NGS) for the analysis of spontaneous abortion samples.</p><p><b>METHODS</b>The NGS analysis was carried out on 85 chorionic villi samples (taken between 42 days to 12 weeks of gestation) for which conventional cell culture has failed or chromosomal karyotyping has yielded normal or uncertain result.</p><p><b>RESULTS</b>Among 68 samples with a normal karyotype, the NGS analysis has identified 2 copy number variations (CNVs) and 2 chimeras. For 16 cases with failed cell culture, the NGS has identified 4 chromosomal abnormalities including 1 copy number variation and 3 numerical chromosomal aberrations. For 1 remaining case with uncertain karyotyping result, the NGS analysis has verified it as 46,XX,del(4) (p15.1p16.3).seq[GRCh37/hg19] (57 549 - 32 371 364)×1.</p><p><b>CONCLUSION</b>The NGS analysis is capable of identifying novel CNVs in samples for which conventional cell culture may fail or karyotyping analysis may yield a normal result.</p>