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目的:探讨广西地区唐氏综合征(Down syndrome,DS)妊娠临床特点、筛查价值及短串联重复序(Short tandem repeat,STR)分析快速产前诊断的可行性。方法:对29 946例产前诊断孕妇的绒毛、羊水或脐血进行染色体核型分析,采用荧光定量PCR法分析97例标本21号染色体5个STR。结果:DS总检出率为0.89%,其中绒毛、羊水或脐血DS检出率分别为0.39%、0.76%和1.39%。主要指征为血清DS筛查高风险、高龄和超声异常发现,其DS检出率分别为1.10%、0.65%和2.03%,其他指征合并以上3种指征者DS检出率分别为1.69%、1.72%和3.75%。DS再发风险率为1.15%,其余指征组检出率为0~0.77%。STR分析显示21号染色三体核型18例,与染色体核型结果一致。结论:广西地区DS主要在妊娠中晚期确诊,常规筛查方案能有效检出DS,多项产前诊断指征者提示胎儿DS风险较大,STR位点可用于DS快速产前诊断。
Objective: To investigate the clinical features, screening value and short tandem repeat (STR) analysis of Down syndrome (DS) pregnancy in Guangxi area and analyze the feasibility of rapid prenatal diagnosis. Methods: Chromosomal karyotype analysis of 29 946 prenatal diagnosis of pregnant women ’s villi, amniotic fluid or umbilical cord blood was performed. Five STRs on chromosome 21 of 97 specimens were analyzed by fluorescence quantitative PCR. Results: The total detection rate of DS was 0.89%. The detection rate of DS in villus, amniotic fluid or cord blood was 0.39%, 0.76% and 1.39% respectively. The main indications for the high risk of serum DS screening, senile and ultrasound findings, the DS detection rates were 1.10%, 0.65% and 2.03%, other indications combined with the above three kinds of indications DS detection rates were 1.69 %, 1.72% and 3.75%. DS risk of recurrence was 1.15%, the remaining indication group detection rate of 0 ~ 0.77%. STR analysis showed 18 cases of trisomy 21, consistent with the results of chromosome karyotype. Conclusion: DS is mainly diagnosed in the second trimester of pregnancy in Guangxi. Conventional screening programs can detect DS effectively. A number of prenatal diagnosis indications suggest that fetuses have a higher risk of DS and STR loci may be used for rapid prenatal diagnosis of DS.