甘肃省11〜13^(+6)周胎儿FMF角分布在唐氏综合征筛查中的应用研究  

Study on distribution of frontal and maxillary angle of 11-13 weeks fetus in Gansu province in Down syndrome screening

作　　者：韩娟 牛翠茹 孙庆梅[1] 马小花 李慧琴 赵媛[1] Han Juan;Niu Cuiru;Sun Qingmei;Ma Xiaohua;Li Huiqin;Zhao Yuan(Prenatal Diagnosis Center,Gansu Provincial Maternity and Child-care Hospital,Lanzhou,Gansu,730050)

机构地区：[1]甘肃省妇幼保健院产前诊断中心,兰州730050

出　　处：《西南国防医药》2021年第6期505-507,共3页Medical Journal of National Defending Forces in Southwest China

基　　金：兰州市科技局(2019-ZD-129)。

摘　　要：目的回顾性分析研究甘肃省11-13^(+6)周胎儿颈项透明层厚度(nuchal translucency,NT)、额上颌角(frontomaxillary facial angle,FMF)的分布在唐氏综合征(Down syndrome,DS)筛查中的应用。方法随机选择2019年1月~2020年12月甘肃省妇幼保健院1000例出生正常胎儿做为对照组,以及经染色体核型分析确诊为唐氏综合征患儿85例做为病例组,收集两组胎儿超声图像资料,分析两组胎儿NT厚度及FMF角的情况。结果病例组胎儿NT厚度及FMF值均显著大于对照组(P<0.05)。胎儿NT值与FMF值联合检测对诊断唐氏综合征的灵敏度和特异度均高于单独检测NT厚度。结论早孕期唐氏综合征患儿与正常人群的FMF角存在差异;将FMF角作为早孕期唐氏筛查又一标记物,联合NT厚度,PAPP-A和Freeβ-HCG指标,进一步降低非整倍体胎儿的出生,提高出生人口素质。Objective Retrospective analysis to study the distribution of nuchal translucency layer thickness(nuchal translucency, NT) and frontomaxillary facial angle(FMF) in Gansu Province in the distribution of Down syndrome(DS) screening applications. Methods Random selection of 1000 normal birth fetuses from January 2019 to December 2020 in Gansu Province as a control group, and 85 cases of children diagnosed with Down syndrome by chromosomal analysis as case groups, collected two sets of fetal ultrasound image data, and analyzed the NT thickness and FMF angle of two groups of fetuses. Results The fetal NT thickness and FMF value of the case group were significantly larger than that of the control group(P < 0.05). The sensitivity and specificity of fetal NT value and FMF value were higher than that of individual detection of NT thickness. Conclusion There is a difference between the FMF angle of children with Early Pregnancy Down syndrome and the normal population, and the FMF angle is used as another marker of Down’s screening during early pregnancy, which is combined with NT thickness, PAPP-A and Free β-HCG indicators to further reduce the birth of non-whole-body fetuses and improve the quality of the birth population.

关 键 词：额上颌角 早孕期 唐氏综合症 

分 类 号：R596.1[医药卫生—内科学]