应用生物素标记探针原位杂交法产前快速诊断21三体综合征

本文对２２例妊娠１６－２４周因母血α－胎甲蛋白（α－ＦＰ）浓度低于正常范围或Ｂ超检查发现胎儿解剖畸形的孕妇进行了羊水穿刺，对采取的羊水标本分别进行常规细胞培养核型分析及应用生物素标记的２１号染色体特异性探针对未经培养的羊水细胞进行原位杂交快速产前诊断。原位杂交结果发现３例２１三体综合征的患胎，与常规细胞遗传学分析结果符合。本文认为，生物素标记探针间期核原位杂交技术能快速而准确的诊断选择性胎儿染色体数目畸变。

Rapid prenatal detection of Down's syndrome by using biotinated in sttu hybridization

Down's syndrome(tisomy 21) is the most frequent chromsomal abnormality.Amniocentesis and conventional cytogenetic analysis has been a common prenatal diagnostic method for the high risk pregnancies of Down's fetus. Amniocenteses from 16-24 gestational week pregnancies were performed on 22 cases because of lower maternal serum a-FP or abnormal fetal ultrasound findings. We used biotinated in situ hybridization with chromosome 21 specific probe on those uncultured amniocytes to detect trisomy 21, and conventional chromosome analysis of cultured cells were studied from parallel samples. The results showed. three fetus with trisomy 21 karyotype were diagnosed by in situ hybridization.The diagnoses were confirmed by conventionalkaryotyping, It demostrate that interphase biotinated in situ hybridization can identify selected fetal Chromosomal enumerations rapidly and accurately.