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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。
In this paper, 22 cases of pregnant women between the ages of 16-24 gestational α-fetoprotein (α-FP) concentration lower than the normal range or B-scan fetal anatomy of the pregnant women were amniocentesis, taken by the amniotic fluid samples were routine Cell culture karyotype analysis and application of biotin-labeled chromosome 21-specific probe for rapid prenatal diagnosis of uncultured amniotic fluid cells by in situ hybridization. In situ hybridization results found that 3 cases of trisomy 21 with the trisomy, with conventional cytogenetic analysis results. In this paper, biotin-labeled probe interphase nuclear in situ hybridization can quickly and accurately diagnose the number of selective fetal chromosome aberrations.