孕中期唐氏筛查结果分析在临床中的运用探讨

Clinical value of Down's syndrome screening results analysis in the second trimester of pregnancy

目的通过比较唐氏高风险组和18-三体高风险组异常染色体核型阳性率和宁波市妇女儿童医院115例染色体异常胎儿高风险来源构成情况,提高对产前筛查结果的分析水平,以最大限度地减少染色体异常胎儿的出生。方法对近3年宁波市妇女儿童医院确诊的115例染色体异常胎儿母亲中孕期产前筛查结果进行回顾性分析。结果两组高风险人群内不同的异常染色体核型阳性率差异有统计学意义,两组高风险人群间异常染色体核型阳性率差异有统计学意义,且18-三体高风险人群组的18-三体综合征和其他染色体异常阳性率均高于唐氏高风险人群组;115例染色体异常病例中,提示为唐氏高风险93例,提示为18-三体高风险31例。结论产前筛查不仅能提示唐氏高风险及18-三体高风险,亦能提示可能存在其他染色体数目及结构异常的风险。

Objective To compare the positive rates of abnormal chromosome karyotype in high risk population of Down＇s syndrome and 18 -trisomy syndrome, and analyze the high risk compositions of 115 cases of chromosome abnormal foetuses in the hospital, so as to improve the analysis level of prenatal screening results and maximize the decrease of birth of fetus with chromo- somal abnormality. Methods The prenatal screening results of the 115 pregnant mothers in the middle of pregnancy were retro- spectively analyzed in the past 3 years. Results There were significant statistical differences among the positive rates of differ- ent abnormal chromosome karyotypes in both two groups of high risk population, which was also found in positive rates of abnor- mal chromosome karyotypes between the two groups of high risk population. The positive rates of 18 - trisomy syndrome and oth- er chromosome abnormalities in 18 -trisomy high risk population were higher than those in high risk group of Down＇s syndrome. It was prompted that there were 93 high risk cases of Down syndrome and 31 high risk cases of 18 -trisomy syndrome in 115 ab- normal chromosome cases. Conclusion Prenatal screening can prompt the high risk of Down＇s syndrome and 18 - trisomy syn- drome, as well as the risk of the abnormality of the other chromosome number and structure.