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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 karyotypes in high risk group of Down’s syndrome and high risk group of 18-trisomy and the source of 115 high risk fetuses with chromosomal abnormalities in Ningbo Women’s and Children’s Hospital to improve the analysis of prenatal screening results Minimize the birth of a chromosomal abnormality fetus. Methods The results of prenatal screening during pregnancy in 115 cases of chromosomal abnormalities in mothers and children diagnosed by Ningbo Women and Children Hospital in recent 3 years were analyzed retrospectively. Results There were significant differences in the positive rates of different abnormal karyotypes between the two groups of high-risk groups. There were significant differences in the positive rates of abnormal chromosome karyotype between the two groups of high-risk groups, and the 18-trisomy 18 - trisomy and other chromosomal abnormalities were higher than those in Down’s high-risk population. Of the 115 chromosomal abnormalities, 93 were high-risk patients with Down’s syndrome, suggesting a high risk of 18-trisomy in 31 patients. Conclusion Prenatal screening can not only indicate Down’s high risk and high risk of 18-trisomy, but also suggest the possibility of other chromosome numbers and structural abnormalities.