目的比较无创产前筛查(NIPT)阳性结果的孕妇,在高龄孕妇组与非高龄孕妇组间侵入性产前诊断结果的差异。方法对NIPT阳性结果的孕妇进行侵入性产前诊断,抽出的羊水或脐血培养行常规染色体G显带核型分析。结果NIPT阳性结果高龄孕妇组59例,非高龄孕妇组64例,通过侵入性产前诊断确诊染色体异常的高龄孕妇组45例,检出率76%;非高龄孕妇组31例,检出率48%。两组间比较差异有统计学意义(χ2=10.073,P=0.002)。结论 NIPT存在一定比例的假阳性,在佛山地区NIPT阳性结果对于高龄孕妇比非高龄孕妇准确度更高。 Objective To compare the differences of invasive prenatal diagnosis among pregnant women with non-invasive prenatal screening (NIPT) positive results in the elderly pregnant women group and non-elderly pregnant women group. Methods The pregnant women with NIPT positive results were diagnosed by invasive prenatal diagnosis. The amniotic fluid or umbilical cord blood was extracted for routine chromosome G banding karyotype analysis. Results The positive results of NIPT in advanced age group were 59 cases of pregnant women, 64 cases of non-advanced pregnant women, diagnosed by invasive prenatal diagnosis of chromosomal abnormalities in 45 cases of elderly pregnant women, the detection rate was 76%; 31 cases of non-advanced pregnant women, the detection rate of 48 %. The difference between the two groups was statistically significant (χ2 = 10.073, P = 0.002). Conclusion There is a certain proportion of false positives in NIPT. The positive results of NIPT in Foshan area are more accurate for pregnant women than non-pregnant women.