胎儿脐血17-羟孕酮检测用于先天性肾上腺皮质增生症的产前诊断价值  

Prenatal diagnosis screening for the congenital adrenal hyperplasias by testing fetal 17-OHP cord blood concentration

作　　者：黄丽华[1] 杨金玲[1] 代元平 谢莉[1] 严提珍[1] 黄钧 陈大宇[1] Huang Lihua;Yang Jinling;Dai Yuanping;Xie Li;Yan Tizhen;Huang Jun;Chen Dayu(Liuzhou Maternity and Child Healthcare Hospital,Liuzhou Institute of Reproduction and Genetics,Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology,Liuzhou,Guangxi 545001,China)

机构地区：[1]广西柳州市妇幼保健院,柳州市生殖与遗传研究所,广西科技大学附属妇产医院、儿童医院,广西柳州545001

出　　处：《医药前沿》2020年第27期25-26,共2页Journal of Frontiers of Medicine

基　　金：柳州市科技重大专项项目(2018AF10501);广西壮族自治区卫计委项目(Z20170525)。

摘　　要：目的:了解不同胎龄17-OHP血浓度水平及血17-OHP含量与先天性肾上腺皮质增生症致病基因携带的关联性。方法:选取2017年1月—2020年5月于广西柳州市妇幼保健院进行脐带血穿刺产前遗传病诊断的病例(孕18~24周)344例,采用时间分辨荧光免疫分析技术(TRFIA)结合分子诊断技术,在知情同意的基础上取脐带血微量制成滤纸样本(约50μL血)同时进行脐血17-OHP浓度及先天性肾上腺皮质增生症致病基因检测。结果:采用时间分辨荧光免疫分析技术检测17-OHP浓度,将17-OHP检测结果≥30nmol/L脐带血进行基因测序,其中45例脐带血有3例检测出基因突变,分别为CYP21A2 c.844G>T/WT突变1例、CYP21A2 c.*13G>A/WT突变1例,CYP21A2 c.844G>T,hetc-92linsT,het复合杂合1例。结论:采用时间分辨荧光免疫分析方法检测17-OHp浓度并联合基因测序是21-羟化酶缺陷产前诊断的可靠方法。Objective To understand the correlation between 17-OHP blood concentration level and blood 17-OHP content of different gestational ages with the carrying of pathogenic genes of congenital adrenal hyperplasia.Methods Collected 344 cases of umbilical cord blood puncture prenatal genetic disease diagnosis(18-24 weeks gestation)in Liuzhou Maternal and Child Health Hospital of Guangxi from Jan.2017-May.2020.Time-resolved fluorescent immunoassay combined with molecular diagnosis technology was used in testing fetal 17-OHP cord blood concentration.On the basis of taking a small amount of cord blood to make a filter paper sample(about 50μl)at the same time for cord blood 17-OHP concentration and genetic testing for congenital adrenal hyperplasia.Results 17-OHP cord blood concentration of 344 cases were detected by time-resolved fluorescence immunoassay,and these cases of 17-OHP≥30nmol/L were sequenced.3gene mutations were discovered,respectively,2cases were CYP21A2c.844G>T/WT,1case was CYP21A2c.*13G>A/WT.Conclusion Using time-resolved fluorescence immunoassay(TRFIA)to detect 17-OHp concentration and combined gene sequencing is a reliable method for prenatal diagnosis of 21-hydroxylase deficiency.

关 键 词：产前诊断筛查 先天性 肾上腺增生 CYP21A2基因 脐带血 17-OHp浓度 

分 类 号：R714.5[医药卫生—妇产科学]