产前胎儿畸形筛查中彩色多普勒超声的应用及对诊断符合率、漏诊率的影响

Application of Color Doppler Ultrasound in Prenatal Fetal Malformation Screening and Its Influence on Diagnostic Coincidence Rate and Missed Diagnosis Rate

目的:探讨产前胎儿畸形筛查中彩色多普勒超声(CDUS)的应用及对诊断符合率、漏诊率的影响。方法:选取笔者所在医院2017年3月-2019年3月接受系统性产前超声筛查检查的1 758例孕妇,使用超声标准检查切面对胎儿畸形进行筛查。全部孕妇均进行随访,直至产妇生产后7 d,并统计新生儿的实际畸形情况,以随访结果作为金标准,观察CDUS检查对胎儿畸形的筛查情况, CDUS诊断的胎儿畸形情况, CDUS漏诊的胎儿畸形情况, CDUS误诊的胎儿畸形情况。结果:CDUS筛查胎儿畸形符合率为99.5%,有6例发生漏诊,漏诊率为14.3%(6/42),有2例发生误诊,误诊率为0.1%(2/1 716)。CDUS诊断的36例胎儿畸形中,占比最高的为脑积水7例(19.4%),其次为脊柱裂5例(13.9%)及肾积水5例(13.9%)。CDUS诊断的36例胎儿畸形中,有8例存在合并畸形。6例漏诊胎儿畸形中,分别为先天性房间隔缺损2例(33.3%)、21-三体1例(16.7%)、先天性室间隔缺损1例(16.7%)、先天性大动脉转位1例(16.7%)、先天性房间隔缺损合并室间隔缺损1例(16.7%)。CDUS共误诊2例胎儿畸形,分别为脑积水1例(50.0%)、两性畸形1例(50.0%)。结论:系统规范化的产前CDUS筛查能够对明显的胎儿畸形实施有效的产前诊断,诊断符合率高,漏诊率低,对于预防并降低出生缺陷具有十分重要的积极临床意义。

Objective:To investigate the application of color doppler ultrasound(CDUS)in prenatal fetal malformation screening and its influence on diagnostic compliance rate and missed diagnosis rate.Method:A total of 1758 pregnant women who received systematic prenatal ultrasound screening in our hospital from March 2017 to March 2019 were selected.Fetal malformation were screened with standard ultrasound examination scan.All the pregnant women were followed up until the 7 d after delivery,and the actual malformation of the newborn was counted.The results of follow-up were used as the gold standard to observe the screening of fetal malformation by CDUS examination.Fetal malformation diagnosed by CDUS.Fetal malformation missed diagnosis by CDUS.Fetal malformation misdiagnosed by CDUS.Result:The coincidence rate of CDUS screening for fetal malformation was 99.5%,6 cases were missed diagnosis,and the missed diagnosis rate was 14.3%(6/42),and 2 cases were misdiagnosed,and the misdiagnosis rate was 0.1%(2/1716).Among the 36 cases of fetal malformation diagnosed by CDUS,the highest proportion was hydrocephalus in 7 cases(19.4%),followed by spina bifida in 5 cases(13.9%)and hydronephrosis in 5 cases(13.9%).Of the 36 cases of fetal malformation diagnosed by CDUS,8 cases had combined malformation.Among the 6 missed diagnosis fetal malformation,there were 2 cases(33.3%)of congenital atrial septal defect,1 case(16.7%)of trisomy 21,1 case(16.7%)of congenital ventricular septal defect,and 1 case(16.7%)of congenital transposition of the great arteries,and 1 case(16.7%)of congenital atrial septal defect combined with ventricular septal defect.There were 2 cases of fetal malformation misdiagnosed by CDUS,including 1 case(50.0%)of hydrocephalus and 1 case(50.0%)of hermaphroditism.Conclusion:Systematic and standardized prenatal CDUS screening can effectively carry out prenatal diagnosis for obvious fetal malformation,with high diagnostic coincidence rate and low missed diagnosis rate,which has a very important positive clinical significance for preventing and reducing birth defects.