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目的探讨孕期无创性产前胎儿染色体非整倍体基因检测技术(non-invasive fetal trisomy test,NIFTY)在临床的应用价值。方法分析3 851例NIFTY检测结果,NIFTY检测高风险的孕妇知情选择羊水穿刺染色体检查,评估孕妇行NIFTY的指征构成比和NIFTY检测准确率。结果 3 851例行NIFTY检测的孕妇中,血清学筛查中风险为最常见NIFTY指征,占32.87%,血清学筛查高风险者占28.23%、高龄占26.36%、血清学筛查单项MOM值异常及超声软指标异常者占12.54%。NIFTY报告21-三体综合征、18-三体综合征、13-三体综合征和性染色体数目异常高风险分别为25例、4例、1例和18例。进一步行染色体核型分析的19、2、1和6例孕妇中,确诊为21-三体综合征、18-三体综合征、13-三体综合征和性染色体数目异常分别为17例、2例、1例、3例。结论泉州市行NIFTY检测的孕妇主要是血清学筛查中风险、高风险和高龄孕妇,NIFTY检测对21-三体综合征、18-三体综合征、13-三体综合征具有较高的准确率,但对性染色体数目异常的准确率较低。
Objective To investigate the value of non-invasive fetal trisomy test (NIFTY) in non-invasive pregnancy during pregnancy. Methods A total of 3 851 NIFTY tests were performed. NIFTY was used to detect the high risk of pregnant women. The amniocentesis was used to assess the constituent ratio of NIFTY and the accuracy of NIFTY detection in pregnant women. Results Of the 3 851 pregnant women who underwent NIFTY test, the risk of serological screening was the most common indicator of NIFTY, accounting for 32.87%, the high risk of serological screening was 28.23%, and the advanced age was 26.36%. Serological screening of single MOM Abnormal value and ultrasound soft index abnormalities accounted for 12.54%. NIFTY reported 21 trisomy, 18 trisomy, 13 trisomy and sex chromosome abnormalities at a high risk of 25, 4, 1 and 18, respectively. Of the 19, 2, 1, and 6 pregnant women who underwent further chromosome karyotyping, 21 cases with 21-trisomy, 18-trisomy, 13-trisomy and sex chromosome abnormalities were diagnosed as 17 cases, 2 cases, 1 case, 3 cases. Conclusion NIFTY test in pregnant women in Quanzhou is mainly at risk, high risk and advanced pregnant women in serological screening. NIFTY test has a higher risk for trisomy 21, trisomy 18 and trisomy 13 Accuracy rate, but the accuracy of the number of sex chromosome abnormalities lower.