产前超声定量技术在18-三体、21-三体胎儿颜面部异常筛查中的临床研究  

Clinical study of prenatal ultrasound quantitative technology in the screening of facial abnormalities of 18-trisomy and 21-trisomy fetuses

作　　者：丁维娜 黄璞 DING Weina;HUANG Pu(Chongqing Kaizhou District People’s Hospital,Chongqing 405400,China)

机构地区：[1]重庆市开州区人民医院,重庆405400

出　　处：《中国优生与遗传杂志》2022年第5期783-788,共6页Chinese Journal of Birth Health & Heredity

基　　金：重庆市卫生和计划生育委员会医学科研项目(2016MSXM194)。

摘　　要：目的探讨产前超声定量技术在18-三体、21-三体胎儿颜面部异常筛查中的价值。方法回顾性分析2019年1月至2021年6月经产科超声检查并有明确染色体结果胎儿,其中31例为18-三体综合征(18-三体组),31例为21-三体综合征(21-三体组),随机选取同期正常胎儿73例作为对照组。比较18-三体组及21-三体组与对照组鼻前组织厚度与鼻骨长度的比值(PT/NBL)、颜面轮廓线(FPL)分型、上颌-鼻根-下颌角(MNM)、额-鼻角(FNA)、上下额面角(MMF)、额-上颌角(FMF)。结果18-三体综合征、21-三体综合征胎儿FPL分型与对照组比较,差异有统计学意义(P<0.05);18-三体综合征胎儿MNM高于对照组,MMF低于对照组(P<0.05);21-三体综合征胎儿PT/NBL高于对照组(P<0.05);21-三体综合征胎儿MNM低于对照组,FMF高于对照组(P<0.05);评估18-三体综合征颜面异常:FPL分型、MNM、MMF联合的AUC最大;评估21-三体综合征颜面异常:PT/NBL、FPL分型、MNM、MMF联合的AUC最大。结论颜面正中矢状面可为18-三体、21-三体颜面异常筛查提供多方面信息,其中FPL可初步判断胎儿下颌、前额异常,鼻骨、鼻前组织厚度对21-三体综合征提示意义明确,MMF、MNM可评估小下颌、颜面扁平,可作为筛查18-三体综合征、21-三体综合征颜面异常的共享参数。Objective To explore the value of prenatal ultrasound quantitative technology in the screening of fetuses with trisomy 18 and trisomy 21.Methods A retrospective analysis of the fetuses with menstrual obstetric ultrasound examination from January 2019 to June 2021 with clear chromosomal results,31 cases of 18-trisomy syndrome(18-trisomy group),31cases of 21-trisomy syndrome(21-trisomy group),73 normal fetuses during the same period were randomly selected as the control group.Compare the ratio of the thickness of the anterior nasal tissue to the length of the nasal bone(PT/NBL),facial contour line(FPL)classification,maxillary-nasal root-mandibular angle(MNM),Frontal-nasal angle(FNA),upper and lower frontal angle(MMF),frontal-maxillary angle(FMF).Results Compared with the control group,the FPL typing of fetuses with trisomy 18 and 21-trisomy syndrome was significantly different(P<0.05).PT/NBL of fetuses with trisomy 21-trisomy was higher than that of control group(P<0.05).MNM and FMF of fetuses with trisomy 21-syndromy were lower than those of control group(P<0.05).Assessing facial abnormalities in trisomy 18:FPL type,MNM,MMF combination has the largest AUC;assessing facial abnormalities in trisomy 21 syndrome:PT/NBL,FPL type,MNM,MMF combination has the largest AUC.Conclusion The median sagittal plane of the face can provide various information for the screening of trisomy 18 and trisomy 21.Among them,FPL can preliminarily determine the abnormality of the fetus’s mandible and forehead,and the thickness of the nasal bone and prenasal tissue can be used to determine the effect of trisomy 21-trisomy.The prompt meaning is clear.MMF and MNM can evaluate the small mandible and flat face,and can be used as shared parameters for the screening of trisomy 18 and trisomy 21 facial abnormalities.

关 键 词：产前超声 定量分析 18-三体综合征 21-三体综合征 胎儿颜面部异常 

分 类 号：R714.5[医药卫生—妇产科学] R445.1[医药卫生—临床医学]