【摘要】 目的 探讨羊水产前诊断和无创DNA产前检测对胎儿染色体异常检查的应用价值。方法 收集2020年1月—2022年12月在南平市市妇幼保健院接受产前检查中超声软指标异常的200例孕妇资料，200例孕妇分别应用羊水穿刺检查与无创DNA检查，对比两种检查结果差异性。结果两种检查胎儿染色体异常检出率比较，差异有统计学意义（P<0.05）。结论 产前诊断中应用无创基因检测可以提高染色体异常检出率，但是对于具体异常类型的诊断范围相对受限，而且无创阳性者需再进行羊水染色体核型分析，所以羊水产前诊断依旧具有无法取缔的优势。更多还原

【Abstract】 Objective To explore the application value of prenatal diagnosis of amniotic fluid and noninvasive DNA prenatal testing in detecting fetal chromosomal abnormalities. Methods A total of 200 pregnant women with abnormal ultrasonic soft indicators in prenatal examination in Nanping Maternal and Child Health Care Hospital from January 2020 to December 2022 were collected, and 200 pregnant women were respectively examined by amniocentesis and non-invasive DNA examination, and the differences between the two kinds of fetal chromosome abnormalities were compared.Results There were significant differences in the positive detection rate of chromosomal abnormalities between the two tests(P < 0.05).Conclusion The application of noninvasive gene testing in prenatal diagnosis can improve the detection rate of chromosome abnormalities,but the diagnostic range of specific abnormal types is relatively limited,and the noninvasive positive patients need to undergo chromosome karyotype analysis of amniotic fluid, so the prenatal diagnosis of amniotic fluid still has an advantage that cannot be banned.更多还原