唐氏综合征产前羊水诊断补救措施的探讨

Study on the prenatal diagnosis of pregnant women with Down's syndrome fetus

目的对错过唐氏筛查和羊水胎儿细胞染色体核型分析的孕妇进行唐氏综合征产前诊断补救措施的探讨与研究。方法抽取首都医科大学附属北京妇产医院就诊的孕妇羊水3 ml共103例,均已诊断胎儿异常(染色体异常或大体畸形等),提取羊水中胎儿细胞DNA,应用QF-PCR方法进行唐氏综合征的分子诊断。结果诊断周期48～72 h,诊断准确率达95%,孕周24～35周,年龄21～44岁,所有患者均进行了胎儿染色体的核型分析和QF-PCR法分析,其中9例为唐氏综合征胎儿。结论QF-PCR方法产前诊断妊娠24周以上的孕妇,与脐静脉穿刺血细胞培养染色体核型分析诊断相比,更安全,简便,快速,依从性好(妊娠24周以上已经不能进行羊水的胎儿细胞培养和核型分析)。

Objective To investigate the diagnostic methods on pregnant women who missed the Down＇s syndrome screening test,the amniocentesis,and the chromosome karyotype analysis.Methods Fetal DNA was obtained from 3 ml amniotic fluid of 103 pregnant women over 24 pregnant weeks,then the molecular diagnosis were provided by QF-PCR method.Results Results could be achieved within 48~72 hours,the diagnosed accuracy was 95% in women who were pregnant for 24 to 35 weeks,there were 9 cases of trisomy 21 in all the cases.Conclusion The QF-PCR method to detect Down syndrome for pregnant women over 24 pregnant weeks is more safe,simple,rapid,and have good compliance compare to chromosome karyotype analysis in umbilical blood sampling.