妊娠中期应用超声量化评分预测非整倍体染色体异常的价值

The value of sonographic score in predicting chromosome abnormality of aneuploidy during pregnancy

目的探讨不同种类非整倍体染色体异常妊娠中期超声表现,制定妊娠中期预测21-三体综合征、18-三体综合征的超声量化评分表。方法选择207例非整倍体染色体异常患者作为研究组,21 310例染色体正常者作为对照组,分析妊娠20-25周不同非整倍体染色体异常的超声表现。将与非整倍体染色体异常相关的轻微结构异常及畸形作为超声指标,通过logistic回归筛选指标,根据阳性似然比赋予指标单项分值,制定妊娠中期预测21-三体综合征、18-三体综合征的相关超声量化评分表,并进行诊断试验评价。结果 （1）超声图像中,65.7%（65/99）21-三体综合征,98.3%（59/60）18-三体综合征,73.3%（11/15）Turner综合征,14.8%（4/27）XXX/XXY/XYY综合征,5例13-三体综合征,1例9-三体综合征可发现轻微结构异常和（或）畸形;（2）21-三体综合征患者脑室扩张、颈后皮褶厚度增厚、心室内点状强回声、肾盂扩张、肢体短小发生率均超过10%,35.4%（35/99）患者存在畸形,最常见为心脏畸形,其次为消化道畸形。预测21-三体综合征的量化评分表的敏感度和特异度分别为56.6%和97.2%;18-三体综合征患者脉络丛囊肿、胎儿生长受限发生率均超过10%,颈后皮褶厚度增厚发生率为3.3%,95.0%患者存在畸形,最常见为心脏畸形,其次为消化道畸形、肢体畸形及面部畸形。预测18-三体综合征的量化评分表的敏感度、特异度分别为93.5%和98.1%。结论妊娠中期不同种类非整倍体染色体异常者可有多种超声轻微结构异常及畸形。超声量化评分表对21-三体综合征、18-三体综合征具有较好的预测价值,便于临床综合应用。

Objective To investigate ultrasound manifestations of different types of aneuploidy, establishing sonographic scoring tables for predicting trisomy 21 and trisomy 18 at second-trimester. Methods Selected 207 fetuses with aneuploidy as study group, compared with 21 310 normal chromosomal fetuses as control group. Analyzed ultrasound images of study and control group at 20-25 weeks gestation summarize ultrasound manifestations of different kinds of aneuploidy. Minor structural abnormalities and structural malformations that associated with aneuploidy were used as ultrasonic markers, screened markers through logistic regression, decided score for each marker by positive likelihood ratio, then sonographic scoring tables were developed for predicting trisomy 21 and trisomy 18. Evaluated these tables by diagnostic tests. Results（1） Minor structural abnormalities and（or） structural abnormalities were detected by ultrasound in 65.7%（65/99） trisomy 21, 98.3%（59/60） trisomy 18, 73.3%（11/15） Turner syndrome, 5 trisomy 13 cases, one trisomy 9 case, 14.8%（4/27） XXX/XXY/XYY syndrome cases;（2） In patients with trisomy 21, the incidences of ventriculomegaly, nuchal fold thickening, echogenic intrcardiac foci, pyelectasis and shortened limbs were more than 10%. The incidence of malformations was 35.4%, most common malformation was cardiac malformation, followed by digestive tract malformation. The sensitivity, specificity of sonographic scoring table for trisomy 21 are 56.6% and 97.2%, respectively; In patients with trisomy 18, the incidences of choroid plexus cysts and fetal growth restriction were more than 10%, the incidences of nuchal fold thickening was 3.3%. The incidence of malformations was 95.0%, most common malformation was cardiac malformation, followed by digestive tract, limb and face malformations. The sensitivity, specificity of sonographic scoring table for trisomy 18 were 93.5% and 98.1%, respectively. Conclusions A variety of sonographic minor structural abnormalities and structural malformations were detected by ultrasound in different types of aneuploidy at second-trimester. Sonographic scoring tables are valuable to predict trisomy 21 and trisomy 18, and simple to use in clinical environment.（Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China ）