早中孕超声检查联合无创产前基因检测在染色体异常胎儿中的价值

Clinical use of first and second trimester ultrasonography combined with non-invasive prenatal testing in the diagnosis of chromosomal abnormalities in Fetuses

目的探讨早中孕期胎儿超声检查联合无创产前基因检测(NIPT)筛查胎儿染色体异常的临床应用价值。方法选取2016年6月～2017年12月于我院进行早中孕期胎儿超声检查的孕妇共14 601例,其中2 575例超声检查异常作为研究对象,根据孕妇是否选择无创产前基因检测(NIPT)分为超声组及联合组。仅超声异常为超声组,超声异常联合NIPT筛查为联合组。对超声组与联合组的染色体异常检出率进行统计分析对比。结果联合组共318例,其中进行侵入性产前诊断共67例,证实染色体异常23例,染色体异常检出率34.3%(23/67);超声组共2257例,其中进行侵入性产前诊断检查443例,证实染色体异常75例,染色体异常检出率16.9%(75/443)。联合组染色体异常检出率高于超声组,差异具有统计学意义(χ~2=11.349,P<0.01)。结论早中孕期胎儿超声检查联合无创产前基因检测能提高胎儿染色体异常检出率,二者互为补充,能减少染色体异常漏诊率,有很好的临床应用价值。

Objective To investigate the value of first and second trimester ultrasonography combined with non-invasive prenatal testing(NIPT) in the diagnosis of chromosomal abnormalities in fetuses. Methods This retrospective study included 14 601 cases of pregnant women received first and second trimester ultrasonography in Dongguan Maternal and Children Hospital from June 2016 to December 2017, 2575 out of whom had abnormal ultrasonic findings and were sub-divided into combined screening group(ultrasonography & NIPT) and ultrasonography screening group. The detection rate of chromosome abnormality was compared between the two groups with using the invasive prenatal examination as reference. Results There were 318 cases in the combined screening group and 2257 in the ultrasonography screening group. Among the combined screening group, 67 cases received invasive prenatal examination which led to the confirmation of chromosomal abnormality in 23 cases. The corresponding number was 443 and 75 in the ultrasonography group. Significantly higher detection rate of chromosomal abnormality was observed in the combined screening group than the ultrasound screening group(34.3% vs. 16.9%, P<0.01). Conclusion The first and second trimester ultrasonography combined with noninvasive prenatal testing can improve the detection rate of chromosomal abnormalities in fetuses, which may have great value in clinical practice.