摘要
目的探讨母血游离胎儿DNA(cffDNA)高通量测序无创检测在胎儿染色体非整倍体检测中的应用价值。方法选取2021年1月至2023年10月于呼伦贝尔市人民医院门诊就诊的1200例具有产前诊断指征的高危孕妇作为研究对象,患者拒绝产前诊断而选择通过母血游离DNA高通量测序无创检测进行胎儿染色体非整倍体检测,分析染色体核型及高通量测序分析结果,比较不同诊断指征样本阳性检出率。结果1例孕妇存在外周血cffDNA含量过低现象无法检测,其他1199例孕妇均成功检测。染色体非整倍体异常病例共计检出23例,其中,XXY孕妇1例、X三体1例、X单体1例、13三体1例、18三体3例、21三体16例,以21三体检出率最高。针对阳性病例实施胎儿染色体核型分析,结果显示X三体为假阳性者共计1例,经核型分析诊断结果显示为正常女性,其他病例染色体核型符合无创检测结果,总阳性检出率达95.65%。产后随访结果表明新生儿无13三体、18三体及21三体等常见染色体非整倍体异常征象。母血清学筛查异常阳性检出率最高,其次为胎儿超声及高龄,但三种检测方式阳性检出率比较,差异无统计学意义(P>0.05)。结论母血游离DNA高通量测序无创检测在13三体、18三体及21三体中的检测价值较高,临床可综合胎儿超声检查结果及高龄筛查等手段以提高诊断准确率。
Objective To investigate the application value of non-invasive detection of maternal free fetal DNA(cffDNA)by high-throughput sequencing in the detection of fetal chromosome aneuploidy.Methods A total of 1200 high-risk pregnant women with indications for prenatal diagnosis who visited the Department of Outpatient,Hulunbuir People's Hospital from January 2021 to October 2023 were selected as the research subjects.The patients refused prenatal diagnosis and chose to undergo fetal chromosome aneuploidy detection through non-invasive detection of maternal blood free DNA sequencing,and chromosome karyotype and high-throughput sequencing analysis results were analyzed.The positive detection rate of samples with different diagnostic indicators was compared.Results The cffDNA content in peripheral blood of 1 pregnant woman was too low to be detected,and the other 1199 pregnant women were detected successfully.A total of 23 cases of chromosome aneuploidy were detected,among which 1 case of XXY pregnant women,1 case of trisomy X,1 case of X monomer,1 case of trisomy 13,3 cases of trisomy 18,16 cases of trisomy 21,with the highest detection rate fetal chromosome karyotype analysis was performed on the positive cases,and the results showed that 1 case of trisomy X was false-positive,and the karyotype of the other cases was consistent with the results of non-invasive detection,and the total positive detection rate was 95.65%.The postpartum follow-up showed that the newborns had no common chromosome ploidy signs such as trisomy 13,trisomy 18 and trisomy 21.The positive rate of abnormal maternal serological screening was the highest,followed by fetal ultrasound and old age,but there was no statistical significance in the positive rate of the three detection methods(P>0.05).Conclusion The non-invasive detection of maternal blood free DNA by high-throughput sequencing has a high value in the detection of trisomy 13,trisomy 18 and trisomy 21,which can be combined with the results of fetal ultrasound and elderly screening to improve the diagnostic accuracy.
作者
刘洁
李铭阳
LIU Jie;LI Mingyang(Department of Obstetrics,Hulunbuir People's Hospital,Inner Mongolia Autonomous Region,Hulunbuir 021000,China;Prenatal Diagnosis Laboratory,Hulunbuir People's Hospital,Inner Mongolia Autonomous Region,Hulunbuir 021000,China)
出处
《中国当代医药》
2026年第3期63-66,共4页
China Modern Medicine
关键词
胎儿染色体非整倍体检测
母血游离DNA
高通量测序无创检测
检测价值
Fetal chromosome aneuploidy detection
Maternal blood free DNA
High-throughput sequencing non-invasive detection
Detection value
