胎儿心内强回声光点与染色体异常及预后关联性的研究  

A study on the relationship between intracardiac hyperechogenic focus and chromosomal abnormality and prognosis

作　　者：王娣 汪菁 WANG Di;WANG Jing(Graduate School of Bengbu Medical University,Bengbu,Anhui 233030,China;不详)

机构地区：[1]蚌埠医科大学研究生院,安徽蚌埠233030 [2]安徽省立医院妇产科产前诊断中心,安徽合肥230001

出　　处：《中华全科医学》2024年第11期1859-1862,共4页Chinese Journal of General Practice

基　　金：安徽省重点研究与开发计划项目(202004j07020024)。

摘　　要：目的探讨胎儿心内强回声光点(intracardiac hyperechogenic focus,ICEF)与遗传性染色体异常间的关联程度,并分析ICEF对胎儿预后评估的影响。方法采用回顾性研究方法,分析2019年1月—2022年12月于安徽省立医院进行产前超声诊断的ICEF单胎妊娠病例450例,采集胎儿羊水或脐带血标本,利用核型分析及拷贝数变异测序(copy number variation sequencing,CNV-seq)技术对标本进行遗传学检测,记录相关检测结果及妊娠结局。结果本研究检出核型异常14例,检出CNV致病性变异15例。核型分析联合CNV-seq检测后,孤立性胎儿心内强回声光点组染色体异常检出例数(2例,9.5%)较非孤立性组染色体异常检出例数(19例,90.5%)低,差异有统计学意义(χ^(2)=7.282,P=0.007)。以孤立性心内强回声光点为对照组,当ICEF合并颈项透明层(nuchal translucency,NT)增厚时,其染色体异常检出3例(χ^(2)=28.362,P<0.001),当ICEF合并胎儿心内结构异常时,其染色体异常检出7例(χ^(2)=7.492,P=0.005)。当ICEF合并NT增厚或胎儿心内结构异常时,其染色体异常的概率显著增加(P<0.05)。结论核型分析与CNV-seq检测的联合应用在提高ICEF胎儿染色体异常检出率方面具有重要价值,非孤立性胎儿心内强回声光点病例中染色体异常的检出率更高,提示在临床实践中需给予更多关注。Objective To investigate the degree of association between intracardiac hyperechogenic focus(ICEF)and genetic chromosomal abnormalities,and to discuss the implications of assessing fetal prognosis.Methods A retrospective study design was used to analyze 450 cases of intracardiac hyperechogenic focus singleton pregnancy diagnosed by prenatal ultrasound in Anhui Provincial Hospital from January 2019 to December 2022.By collecting fetal amniotic fluid or umbilical cord blood samples,karyotype analysis and copy number variation sequencing(CNV-seq)techniques were used to perform genetic testing of the specimens,and associated test results and pregnancy outcomes were recorded.Results In this study,14 cases of abnormal karyotype and 15 cases of pathogenic variation of CNV were detected.After karyotype analysis combined with CNV-seq detection,the number of chromosome abnormalities detected in the isolated intracardiac hyperechogenic focus group(2 cases,9.5%)was lower than that in the non-isolated intracardiac hyperechogenic focus group(19 cases,90.5%),and the difference was statistically significant(χ^(2)=7.282,P=0.007).Isolated intracardiac hyperechogenic focus was used as control group,the number of chromosomal abnormalities was detected when ICEF was combined with Nuchal Translucency(NT)thickening(3 cases,χ^(2)=28.362,P<0.001),the number of chromosomal abnormalities was detected when ICEF was combined with fetal cardiac structural abnormalities(7 cases,χ^(2)=7.492,P=0.005).The probability of chromosomal abnormality was significantly increased when ICEF was combined with NT thickening or fetal cardiac structural abnormalities(P<0.05).Conclusion The combined application of karyotype analysis and CNV-seq detection has an important value in improving the detection rate of chromosomal abnormalities in intracardiac hyperechogenic focus.The detection rate of chromosomal abnormalities in non-isolated intracardiac hyperechogenic focus is higher,suggesting that it should be given more attention in clinical practice.

关 键 词：心内强回声光点 基因组疾病 超声软指标 核型分析 拷贝数变异测序 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]