2876例胎儿染色体核型分析

目的探讨产前诊断的临床意义。方法对符合产前诊断指征的2876例孕妇在妊娠18周～34周进行羊膜腔穿刺或脐血穿刺,抽取羊水或脐血进行细胞培养,分析胎儿染色体核型。结果 2876例产前诊断中发现染色体异常256例,占受检人数的8.9%。其中高龄组中染色体异常的检出率最高,占该指征的20.3%,与唐筛高风险组、彩超异常组、不良妊娠史组、孕早期用药组及其他组比较,差异有统计学意义(P<0.05);而唐筛高风险组、彩超异常组、不良妊娠史组、孕早期用药组及其他组的染色体异常的检出率分别为4.3%、11%、10.5%、4.7%、7.9%,组间两两比较,差异无统计学意义(P>0.05)。在染色体异常核型分布中,染色体多态性最多150例(58.6%),其次为染色体数目异常55例(21.6%),其中有54例染色体数目异常和5例嵌合体的孕妇选择引产,其余均继续妊娠。Logistic回归显示年龄≥35岁、彩超异常、不良妊娠史为异常染色体发生率的相关危险因素。结论染色体异常检出率的高低与产前诊断指征有关,产前诊断是防止异常染色体儿出生的有效手段,应扩大产前筛查的覆盖面,使更多的家庭受益。

Objective To discuss the clinical significance of the prenatal diagnosis indication.Methods Analysis the fetus chromosome karyotype though amniocentesis or cordocentesis of 2876 pregnant maternal in 18~34 gestational weeks with antenatal diagnosis indication.Results Among the 2876 pregnant women,256 fetuses（8.9%） of chromosome abnormality were diagnosed.In elder group,the detection rate of chromosome abnormality was 20.3%,the highest rate.There was a significant difference in elder group compared with Down syndrome high risk group,abnormal color Ultrasound finding group,abnormal history of reproduction group,drug use in early term group,and others（P0.05）.The detection rate of chromosome abnormality was 4.3%,11%,10.5%,4.7%,and 7.9% in Down syndrome high risk group,abnormal color Ultrasound finding,abnormal history of reproduction,drug use in early term,and others,respectively.The difference between each of them was of no statistical significant（P0.05）.In chromosome abnormality patients,there were 150 cases（58.6%） with chromosome polymorphism and 55 cases（21.6%） with chromosome number abnormality.Among them,54 cases of chromosome number abnormality and 5 cases of chimera were induced labor,and others continued pregnancy.The age（≥35 years old）,abnormal color Ultrasound finding,and abnormal history of reproduction were independent factors of chromosome abnormality.Conclusion There was a relationship between the detection rate of chromosome abnormality and the prenatal diagnosis indication.Prenatal diagnosis was an effective method to reduce the birthrate of child with chromosome defects.It should be widely promoted so that more families benefited.