摘要
目的 分析染色体微阵列技术在胎儿唇腭裂产前遗传学诊断中的应用价值。方法 选取经B超诊断胎儿唇腭裂的孕妇49例作为研究对象,孕妇充分知情同意后,通过染色体核型分析和染色体微阵列分析技术(CMA)进行检测,比较两种检查方法的灵敏度,并评估不同类型唇腭裂患者携带拷贝数变异(CNVs)的差异。结果 染色体核型异常检出率为4.1%,CMA致病性CNVs检出率为16.3%,CMA的阳性检出率较染色体核型分析提高了12.2%,差异有统计学意义(P<0.05);CMA结果单纯性唇裂/唇腭裂和合并其他结构异常胎儿的致病性CNVs检出率分别为7.1%和28.6%,差异有统计学意义(P<0.05)。结论 胎儿唇腭裂使用CMA技术进行分析较传统染色体核型技术能提高异常检出率,CMA在唇腭裂疾病病因诊断中具有显著的应用价值。
Objective To analyze the value of chromosome microarray analysis in prenatal genetic diagnosis of fetal cleft lip and palate.Methods Forty-nine pregnant women with fetal cleft lip and palate diagnosed by B-ultrasound were selected as the research objects.After the pregnant women gave her fully informed consent, detection was performed by chromosome karyotyping and chromosome microarray analysis(CMA),and compare the sensitivity of the two examination methods.The difference of CNVs carried by patients with different types of cleft lip and palate was evaluated.Results The detection rate of chromosomal karyotype abnormality was 4.1%,and the detection rate of CMA pathogenic CNVs was 16.3%.The positive detection rate of CMA was 12.2% higher than that of chromosomal karyotype analysis, and the difference was statistically significant(P<0.05);The detection rates of pathogenic CNVs in fetuses with simple cleft lip/palate and combined with other structural abnormalities were 7.1% and 28.6% respectively, as a result of CMA.The difference was statistically significant(P<0.05).Conclusion The detection rate of fetal cleft lip and palate by CMA can be improved compared with traditional karyotype technology.CMA has significant application value in the etiological diagnosis of cleft lip and palate diseases.
作者
张海玉
娄群群
李莉
张海灵
ZHANG Haiyu;LOU Qunqun;LI Li;ZHANG Hailing(Department of Antenatal Diagnosis,Weifang People’s Hospital,Weifang 261041,China;Department of Ultrasound,Weifang People’s Hospital)
出处
《潍坊医学院学报》
2022年第1期28-30,共3页
Acta Academiae Medicinae Weifang
关键词
染色体微阵列技术
胎儿
唇腭裂
遗传学诊断
Chromosome microarray technology
Fetus
cleft lip and palate
Genetic diagnosis
