中文摘要：

目的评价无创基因检测在胎儿染色体非整倍体诊断中的临床应用价值。方法选取253例高龄孕妇,在知情同意的原则下采集外周血血浆,对其血浆中胎儿游离DNA进行检测;并与实验孕妇的羊水染色体核型分析结果进行比对验证。结果本试验对253例样本进行了孕妇血浆胎儿游离DNA检测,检出21-三体阳性病例3例,检出18-三体阳性病例1例,与染色体核型分析的结果一致。结论无创基因检测可以用于胎儿染色体拷贝数异常的检测,具有无创、灵敏度高、特异性强等优点,在胎儿染色体拷贝数异常疾病的产前检测中具有临床实际应用的价值。

英文摘要：

Objective To validate the clinical value ofnoninvasive gene Detection in fetal chromosomal aneuploidy diagnosis. Methods A total of 235 pregnant women with advanced maternal ages were screened for maternal plasma cell-free fetal DNA （cff-DNA） examination, and the results were then confirmed by karyotype analysis. Results Of the 253 women examined, cff-DNA screening detected chromosomal aneuploidy in 4 cases, including trisome-21 in 3 cases, trisome-18 in 1 case as confirmed subsequently by karyotype analysis. Conclusion Noninvasive gene examination is efficient for detecting fetal chromosomal aneuploidies, and is non-invasive highly sensitive and specific. It therefore has a practical clinical value.