摘要
目的探讨染色体核型与染色体微阵列分析技术(CMA)在超声异常胎儿产前诊断中联合应用临床价值及染色体变异位点与临床表型相关性。方法分析2016年至2017年间于我院产前诊断中心就诊47例孕妇病例资料,进行染色体核型及CMA检测。结果 (1)47例胎儿13例染色体变异终止妊娠;17例胎儿顺利生产,15例随访终止妊娠;(2)8例变异染色体核型阳性,检出率16.8%(8/47)。联合CMA技术检测,2例核型异常(1例性染色体嵌合、1例常染色体衍生)胎儿行CMA检测,明确了嵌合片段来源及染色体衍生的区带定位、性质。5例染色体核型正常胎儿CMA变异,较单独传统核型分析将检出率提高了10.5%;3例明确微结构致病性,将疾病诊断率提高了6.3%。结论传统染色体核型分析与CMA联合用于超声结构异常胎儿染色体病检测,显著提高致病检出率,明确致病结构、片段来源及致病性,指导遗传咨询并降低缺陷患儿出生,拓宽医师诊疗思路;本研究研究数据同时充实中国人群CMA数据库。
Objective To investigate the clinical value of conventional karyotyping combined with chromosomal microarray analysis(CMA) for fetuses with a structural ultrasound anomaly,and to explore the correlation between chromosome variation and clinical phenotypes in guiding clinical practice.Methods The clinical data of 47 patients with abnormal ultrasonic images treated in Shijiazhuang Obstetrics and Gynecology Hospital from 2016 to 2017 was retrospectively analyzed for chromosome karyotype and CMA.Results The 47 samples consisted of 13 samples that presented chromosomal abnormalities were terminated,17 samples who excluded chromosomal diseases were born,15 samples were terminated during the follow-up period.(2) After karyotype results from the 47 samples showed that 16.8%(8 of 47) samples had an abnormal karyotype,7 samples were definite pathogenic,accounting for 14.9%(7 of 47).CMA identified additional,aneuploidies and unbalanced rearrangements were detected in 2 samples with an abnormal karyotype.5 samples with a normal karyotype were identified as having copy-number variants,in which variation was increased 10.5% as compared with karyotyping for routine prenatal diagnosis.3 samples were classified as pathogenic,which increased diagnostic rate of CMA identified as a genetic cause from 14.9 to 21.2%(10 of 47).Conclusions The combination of standard karyotyping with Chromosomal microarray analysis can improve the incremental yield of chromosomal and is equally efficacious in identifying the pathogenic structure,fragment origin and pathogenicity,which can guide counseling,reduce the birth rate of defective children and have considerable diagnostic and prognostic value in these pregnancies.Meanwhile,the data of our study also enrich the CMA database of Chinese population.
作者
孟雁欣
于湄
张静
杨玉秀
MENG Yanxin;YU Mei;ZHANG Jing;YANG Yuxiu(Prenatal Diagnosis Center,The Fourth Hospital of Shijiazhuang,Shijiazhuang 050001,China)
出处
《实用医学杂志》
CAS
北大核心
2020年第5期667-671,共5页
The Journal of Practical Medicine
基金
河北省医学适用技术跟踪项目(编号:G2018108)。
关键词
染色体核型分析
染色体微阵列分析
胎儿超声异常
产前诊断
chromosome karyotype analysis
chromosome microarray analysis
fetal ultrasound abnormality
prenatal diagnosis
