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目的:探讨孕11~13~(+6)周胎儿超声检查联合无创产前基因检测(NIPT)对于筛查胎儿染色体异常的临床应用价值。方法:选取2014年12月至2016年12月于深圳市第二人民医院进行孕11~13~(+6)周胎儿超声检查并在深圳市第二人民医院分娩的孕妇共15959例,进行早孕期超声筛查,对于自愿行无创产前检测的孕妇进行基因检测。结果:联合组共6627例,超声组共9332例;联合组筛查共523例高风险,筛查阳性率为7.89%,其中进行有创产前诊断检查共170例,证实染色体异常92例,检出率54.0%;超声组中共658例胎儿异常,筛查阳性率为7.05%,其中进行有创产前诊断检查120例,证实染色体异常20例,检出率16.67%。联合组筛查阳性率高于超声组,差异具有统计学意义(P<0.05)。结论:孕11~13~(+6)周胎儿超声检查联合NIPT能提高筛查阳性率,有很好的临床应用价值。
Objective: To investigate the clinical value of fetal ultrasonography combined with noninvasive prenatal genetic testing (NIPT) during screening for fetal chromosomal abnormalities during 11 ~ 13 ~ (+6) weeks of gestation. Methods: From December 2014 to December 2016, 15 959 pregnant women who delivered 11 ~ 13 ~ (+6) weeks of gestation in Shenzhen Second People’s Hospital during pregnancy and who delivered at Second People’s Hospital of Shenzhen City were selected for early pregnancy Period of ultrasound screening, for voluntary non-invasive prenatal testing of pregnant women for genetic testing. Results: A total of 6627 cases in the combined group were 9332 cases in the ultrasound group. A total of 523 cases of high risk were detected in the combined group. The screening positive rate was 7.89%. Among them, 170 cases were diagnosed by invasive prenatal diagnosis, 92 cases were confirmed chromosomal abnormalities, The detection rate was 54.0%. A total of 658 cases of fetal abnormalities were detected in the ultrasound group. The positive rate of screening was 7.05%. 120 cases were diagnosed by invasive prenatal diagnosis and 20 cases were confirmed chromosomal abnormalities. The detection rate was 16.67%. The combined group screening positive rate was higher than ultrasound group, the difference was statistically significant (P <0.05). Conclusion: Fetal ultrasound combined with NIPT during 11 ~ 13 ~ (+6) weeks of gestation can increase the positive rate of screening, which has a good clinical value.