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目的分析无创性产前基因检测(NIPT)的指征构成及检出结果的准确性,探讨其临床应用价值。方法选取2015年在福建省妇幼保健院产前诊断中心行NIPT的高危孕妇2 912例,对其临床资料进行回顾性分析。NIPT的检测范围包括21、18、13及性染色体非整倍体。对NIPT高风险的孕妇,建议行羊水或脐血穿刺染色体核型分析,比较两者结果的一致性,并随访妊娠结局。结果共检出53例染色体数目异常高风险,检出率1.82%(53/2 912)。21-三体、18-三体、13-三体和X染色体数目异常高风险分别为15例(0.52%)、4例(0.14%)、3例(0.10%)和31例(1.06%),进一步行染色体核型分析的例数分别为14、4、2和22例,确诊为21-三体、18-三体、13-三体和性染色体数目异常的例数分别为12、2、2和10例,阳性预测值分别为85.71%(12/14)、50.00%(2/4)、100.00%(2/2)和45.45%(10/22)。结论 NIPT对21-三体和18-三体具有较高的敏感性和特异性,能提高产前筛查和诊断效率,具有较好的临床应用价值。
Objective To analyze the indications of noninvasive prenatal gene detection (NIPT) and the accuracy of the results and explore its clinical value. METHODS: A total of 2 912 high-risk pregnant women with NIPT from Prenatal Diagnostic Center of MCH in Fujian Province were selected in 2015, and their clinical data were retrospectively analyzed. NIPT detection range includes 21,18,13 and sex chromosome aneuploidy. For pregnant women with high risk of NIPT, karyotype analysis of amniotic fluid or umbilical cord blood is recommended to compare the consistency of the results between the two and follow up the pregnancy outcome. Results A total of 53 chromosomal abnormalities were detected. The detection rate was 1.82% (53/2 912). There were 15 cases (0.52%), 4 cases (0.14%), 3 cases (0.10%) and 31 cases (1.06%) of 21- trisomy, 18- trisomy, 13- trisomy and X chromosome. , And further cases of chromosome karyotyping cases were 14,4,2 and 22 cases were diagnosed as trisomy 21, trisomy 18, trisomy 13 and the number of cases of sex chromosome abnormalities were 12,2 , 2 and 10 cases respectively. The positive predictive value was 85.71% (12/14), 50.00% (2/4), 100.00% (2/2) and 45.45% (10/22) respectively. Conclusion NIPT has high sensitivity and specificity for 21-trisomy and 18-trisomy, which can improve the efficiency of prenatal screening and diagnosis and has good clinical value.