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目的分析无创产前基因检测技术在胎儿染色体非整倍体疾病诊断中的检出效率及临床应用价值。方法对10 503名孕妇行无创产前基因检测,对NIPT高风险病例,应用介入性诊断方法,染色体G显带核型分析技术和BoBs技术进行诊断;对NIPT低风险病例进行电话随访。结果 10 503例孕妇中,检出48例NIPT高风险,检出率为0.46%,与核型分析及BoBs结果都符合的30例,BoBs结果正常但核型结果为嵌合体的4例,其余14例为假阳性。低风险孕妇追踪随访未发现漏诊者。结论无创产前基因检测能提高产前诊断效率,具有高敏感度和特异性,但是其存在染色体异常漏检和假阳性结果的风险,所以不能完全替代传统的血清学筛查及有创检查。
Objective To analyze the detection efficiency and clinical value of noninvasive prenatal genetic testing in the diagnosis of fetal aneuploidy. Methods 10 503 pregnant women underwent noninvasive prenatal genetic testing. The patients with high risk of NIPT were diagnosed by interventional diagnostic method, G - banding karyotype analysis and BoBs technique. The patients with low risk of NIPT were followed up by telephone. Results Among 10 503 pregnant women, 48 cases with high risk of NIPT were detected. The detection rate was 0.46%. Thirty cases were found to be consistent with karyotype analysis and BoBs results. Four cases with normal BoBs but karyotype were chimera. Fourteen cases were false positives. Low-risk pregnant women follow-up did not find any missed patients. Conclusion Noninvasive prenatal genetic testing can improve the efficiency of prenatal diagnosis with high sensitivity and specificity. However, there is a risk of missing and false positive chromosomal abnormalities, so it can not completely replace the traditional serological screening and invasive examination.