超声测量前额空间比联合无创产前DNA筛查早孕期胎儿染色体异常的临床价值  

Clinical value of ultrasound measurement of prefrontal space ratio combined with non-invasive prenatal testing in screening fetal chromosomal abnormalities in early pregnancy

作　　者：张玉敏[1] 谢斌[1] 陈杰能 赵现伟[1] ZHANG Yumin;XIE Bin;CHEN Jieneng;ZHAO Xianwei(Department of Ultrasound Medicine,Huanggang Central Hospital,Hubei 438000,China)

机构地区：[1]湖北省黄冈市中心医院超声医学科,438000

出　　处：《临床超声医学杂志》2024年第6期517-520,共4页Journal of Clinical Ultrasound in Medicine

摘　　要：目的应用超声测量前额空间比(PFSR),探讨其联合无创产前DNA检测(NIPT)在早孕期胎儿染色体异常筛查中的临床应用价值。方法选取在我院接受早孕期羊水穿刺染色体核型检测的高危孕妇80例,均行产前超声检查及NIPT,以羊水穿刺染色体核型检测结果为金标准,比较超声测量PFSR、NIPT及两者联合应用筛查早孕期胎儿染色体异常的诊断效能。结果80例高危孕妇中,羊水穿刺染色体核型检测筛查胎儿染色体异常11例,其中21-三体综合征6例,18-三体综合征2例,13-三体综合征2例,Turner综合征1例。超声测量PFSR筛查早孕期胎儿染色体异常的灵敏度、特异度及准确率分别为63.64%、86.96%、83.75%;NIPT的灵敏度、特异度及准确率分别为72.73%、88.41%、86.25%;两者联合应用的灵敏度、特异度及准确率分别为90.91%、98.55%、97.50%,均高于单一方法,差异均有统计学意义(均P<0.05)。结论超声测量PFSR联合NIPT能提高筛查早孕期胎儿染色体异常的诊断效能,具有较好的临床应用价值。Objective To measure the prefrontal space ratio(PFSR)by ultrasound,and to explore the clinical application value of the method combined with non-invasive prenatal testing(NIPT)in screening fetal chromosomal abnormalities in early pregnancy.Methods A total of 80 high-risk pregnant women who received amniocentesis chromosome karyotype detection in our hospital were selected.All of them underwent prenatal ultrasound examination and NIPT.Amniocentesis chromosome karyotype detection results were taken as the gold standard,the diagnostic efficacy of ultrasound measurement of PFSR,NIPT and their combined application in screening fetal chromosomal abnormalities in early pregnancy were compared.Results Among the 80 high-risk pregnant women,11 cases were screened for fetal chromosomal abnormalities by amniocentesis,including 6 cases of trisomy 21 syndrome,2 cases of trisomy 18 syndrome,2 cases of trisomy 13 syndrome,and 1 case of Turner syndrome.The sensitivity,specificity and accuracy of ultrasound measurement of PFSR for screening fetal chromosomal abnormalities in early pregnancy were 63.64%,86.96%and 83.75%,respectively.The sensitivity,specificity and accuracy of NIPT were 72.73%,88.41%and 86.25%,respectively.The sensitivity,specificity and accuracy of the combination of the two methods were 90.91%,98.55%and 97.50%,respectively,which were higher than those of the single method,and the differences were statistically significant(all P<0.05).Conclusion Ultrasound measurement of PFSR combined with NIPT could improve the diagnostic efficacy for screening fetal chromosomal abnormalities in early pregnancy,and has good clinical application value.

关 键 词：超声检查 产前 前额空间比 无创产前DNA检测 染色体异常 胎儿 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]