产前超声联合染色体筛查在胎儿结构畸形中的应用及与预后的相关性研究

Application of prenatal ultrasound combined with chromosome screening in fetal structural malformation and its association with prognosis

目的探讨产前超声联合无创DNA检查(NIPT)在胎儿结构畸形中的应用及与预后的相关性。方法选择2016年4月～2017年6月医院进行产前筛查的孕妇8935例,超声详细多个切面对胎儿进行全面的检查,对相关异常进行记录;对于超声下胎儿结构异常者在孕12w后对孕妇进行羊水穿刺并进行基因检测,记录胎儿结构畸形与染色体异常种类、数量,计算两种检测方法的敏感性、特异性、阳性预测值及阴性预测值;统计胎儿出生情况,列入本次研究进行统计;采用SPSS Pearson相关性分析软件进行相关性分析。结果 8935例孕妇均完成超声联合染色体筛查,发现结构畸形筛查98例,占1.10%;产前超声筛查异常患者均进行染色体筛查,98例胎儿中62例染色体数量异常,36例染色体结构异常;染色体数目异常胎儿主要为DS和18-三体综合征;染色体结构异常主要为46,XY,t(4;15)(p16;q15)和46,XY,t(6;10)(q22;q25);产前超声联合染色体筛查诊断敏感性、特异性、阳性预测值及阴性预测值,均高于超声筛查(P<0.05);SPSS Pearson相关性分析结果表明:产前超声联合染色体筛查结果与预后呈正相关性(P<0.05)。结论将产前超声联合染色体筛查用于胎儿结构畸形筛查中能提高筛查确诊率,且与预后具有一定的相关性,能为临床制定有效的措施干预提供依据,值得推广应用。

Objective：To investigate the application of prenatal ultrasound combined with non-invasive DNA（NIPT）in fetal structural malformation and its correlation with prognosis. Methods：A total of 8935 pregnant women who underwent prenatal screening at the hospital between April 2016 and June 2017 were selected. Ultrasound was used to perform detailed examinations on multiple face-to-face fetuses and relevant abnormalities were recorded. Patients with abnormal fetal structure under ultrasound were included in the study. After 12 weeks of gestation,amniocentesis was performed on pregnant women and genetic testing was performed to record fetal structural malformations and chromosomal abnormalities. The sensitivity,specificity,positive predictive value,and negative predictive value of the two test methods were calculated;fetal birth was counted. Included in this study for statistics;using SPSS Pearson correlation analysis software for correlation analysis. Results：A total of 8,935 cases of pregnant women completed ultrasound combined with chromosomal screening. 98 cases of structural malformation screening were found,accounting for 1.10%;all patients with abnormal prenatal ultrasound screening were screened for chromosomes. Abnormal numbers of chromosomes were found in 62 cases of 98 cases and 36 cases. Chromosome abnormalities;abnormal fetal chromosome numbers are mainly DS and 18-trisomy syndrome;chromosome structure abnormalities are mainly 46,XY,t（4;15）（p16;q15）and 46,XY,t（6;10）（q22;q25）;Sensitivity,specificity,positive predictive value,and negative predictive value of prenatal ultrasound combined with chromosome screening were higher than those of ultrasound screening（P〈0.05）;SPSS Pearson correlation analysis showed that prenatal There was a positive correlation between the results of extended combined chromosome screening and prognosis（P〈0.05）. Conclusion：The use of prenatal ultrasound combined with chromosome screening for fetal structural malformation screening can improve the rate of screening and confirming the diagnosis,and has a certain correlation with the prognosis. It can provide a basis for the development of effective interventions for clinical interventions and is worthy of popularization and application.