广东地区近年产前诊断中常染色体三体检出率的分析

Analysis of the detection rate of trisomy autosome in prenatal diagnosis in recent years in Guangdong

目的探讨广东地区近年在产前诊断中常染色体三体检出率的变化情况和原因。方法对2005年至2007年和2008年至2010年两个时间段因各种产前诊断指征在本院行胎儿染色体核型分析的病例的常染色体三体检出率进行比较。结果在产前诊断中21-三体、18-三体和13-三体是最常见的常染色体三体;2008年至2010年的常染色体三体总检出率和高龄孕妇比例比2005年至2007年提高;两个时间组非高龄孕妇妊娠常染色体三体儿几率均高于高龄孕妇。结论广东地区近年产前诊断常染色体三体总检出率的提高与孕妇高龄化、环境污染、孕期血清学筛查和超声检查的广泛应用有关,提高医务人员的检验水平和保护环境有助于减少常染色体三体儿的出生。

Objective： To study changes and causes of the detection rate of trisomy autosome in prenatal diagnosis in recent years in Guangdong.Methods：Cases of fetal karyotype analysis which were done in our hospital for various prenatal diagnosis indications were divided into two groups： one group contained cases from 2005 to 2007,the other from 2008 to 2010.Compare the detection rate of trisomy autosome of the two groups.Results： Trisomy 21,trisomy 18 and trisomy 13 were the most common trisomy autosome in prenatal diagnosis.The detection rate of trisomy autosome and proportion of elder pregnant women were higher in the group from 2008 to 2010 than in the group from 2005 to 2007.In two groups,probability of non-elder pregnant women had pregnancies of fetuses with trisomy autosome was higher than that of elder pregnant women.Conclusions： The detection rate of trisomy autosome in prenatal diagnosis increased in recent years in Guangdong.It related to aging of pregnant women,environmental pollution and wide use of serological screening during pregnancy and ultrasound examination.It was helpful to reduce births of infants with trisomy autosome by improving the inspection level of medical staff and protecting environment.