Application of next generation sequencing for the detection of chromosomal aneuploidies and copy number variations in abortus tissues / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect numerical chromosomal aberrations and copy number variations (CNVs) in abortus tissue samples with a benchtop semiconductor sequencing platform (SSP).</p><p><b>METHODS</b>One hundred and forty patients with early spontaneous abortions at between 7 and 16 weeks were selected. Following DNA extraction, library preparation, high-throughput sequencing was carried out.</p><p><b>RESULTS</b>Chromosomal anomalies were detected in 82 cases (58.57%), which included 67 aneuploidies and 15 CNVs. Trisomies 16, 21, 22, and X/Y were the most common. A significant difference was found in the anomaly rates between women <35 and ≥35 years old (P< 0.01).</p><p><b>CONCLUSION</b>The SSP platform can detect chromosomal aneuploidies and CNVs among abortus tissues. Numerical chromosomal aberration is the main cause of early spontaneous abortion, and advance maternal age is a high risk factor for chromosomal abnormality.</p>