摘要
目的探讨细菌人工染色体微珠标记技术(Bobs)在胎儿染色体疾病诊断中的应用价值。方法对1 056例行羊膜腔穿刺术的胎儿羊水细胞行染色体核型分析及Bobs检测,对部分Bobs检测阳性样本行染色体微阵列、荧光原位杂交方法验证。结果 Bobs准确验证了核型分析发现的所有16例染色体非整倍体异常、1例Wolf-Hirschhorn综合征以及3例性染色体异常嵌合体,此外在核型正常样本中检出2例22q11微重复以及1例母体细胞污染病例。结论相较于染色体核型分析,Bobs具有通量高、检验快速及分析简便的优势,适宜作为介入性产前诊断的常规补充项目。
Objective To evaluate the value of BACs-on-Beads(Bobs)in the diagnosis of fetal chromosomal diseases.Methods The karyotype analysis and Bobs detection of amniocentesis in 1056 cases of amniocentesis were carried out.Some Bobs positive samples were tested by chromosome microarray and fluorescence in situ hybridization.Results Bobs verified all 16 chromosomal aneuploidy abnormalities detected by karyotype analysis,1 cases of Wolf-Hirschhorn syndrome,and 3 chromosomal abnormal chimeras.In addition,2 cases of22 q11 micro duplication and 1 maternal cell pollution cases were detected in normal karyotype samples..Conclusion Compared with karyotype analysis,Bobs has the advantages of high throughput,rapid detection and simple analysis.It is suitable for routine prenatal diagnosis.
作者
江雨
张剑
吴丽丽
吴琦嫦
苏志英
JIANG Yu;ZHANG Jian;WU Li-Li(Prenatal Diagnosis Centre,Xiamen Maternity and Child Health Care Hospital,Xiamen,Fujian 361003,China)
出处
《中国妇幼保健》
CAS
2019年第18期4250-4255,共6页
Maternal and Child Health Care of China
基金
厦门市妇幼保健院青年人才星火计划
