摘要
目的比较孕24w前胎儿超声微小病变染色体微阵列(CMA)阳性率与孕24w后超声微小病变CMA阳性率。方法选取2015年10月至2017年6月在我院医学遗传中心进行产前诊断行CMA检测的胎儿超声微小病变孕妇,孕24w前为A组,孕24w后为B组,A、B两组各选取180例,共360例。比较两组阳性率的差异。结果 A组致病性CNV病例数24例,占13.3%。B组致病性CNV病例数12例,占6.6%。两组比较差异有统计学意义(P<0.05)。A、B两组意义不明CNV病例数分别为40、36例,分别占22.2%、20%,差异无统计学意义(P>0.05)。A、B两组正常病例数分别为116、132例,分别占64.4%、73.3%,差异无统计学意义(P>0.05)。结论 CMA是产前B超异常者病因学诊断的一项重要内容。孕24w前产前超声异常者基因异常检出率大于孕24w之后产前超声异常者。孕24行第一次排畸检查有重要意义。
Objective：To compare with the positive rate of chromosomal microarry analysis（CMA）before 24 weeks pregnant and the positive rate of CMA after 24 weeks pregnant,because of ultrasound minor lesions. Methods：Amniotic fluid samples from 360 fetuses with ultrasound minimally pathological changes were analyzed with CMA from October 2015 to June 2017 in our medical genetic center. All samples were redivided into two groups,Group A：180 samples with abnormal ultrasound before 24 weeks pregnant;Group B：180 samples with abnormal ultrasound after 24 weeks pregnant. The difference between the two groups was compared. Results：Group A had 24 pathogenic CNV cases accounting for 13.3%,and Group B had 12 pathogenic CNV cases accounting for 6.6%. The difference between the two groups was statistically significant（P〈0.05）. Group A and Group B had 40 and 36 variants of unknown significance cases accounting for 22.2% and 20%,respectively. The difference was not statistically significant（P〉0.05）. Group A and Group B had 116 and 132 normal cases accounting for 64.4% and 73.3%,respectively. The difference was not statistically significant（P〉0.05）. Conclusion：CMA is an important part of the etiology diagnosis of prenatal B-mode abnormalities. The positive rate of chromosomal microarry analysis（CMA）before 24 weeks pregnant ultrasound abnormalities was higher than the positive rate of CMA after 24 weeks pregnant ultrasound abnormalities. It is essential that doing b-ultrasonography before 24 weeks pregnant.
作者
冯宗辉
陈静
谌燕
易凤梅
FENG Zong-hui;CHEN Jing;ZHAN Yan;YI Feng-mei(Huaihua Prenatal Diagnosis Center,Huaihua Maternal and Child Health Case Hospital,Huaihua 418000,Hunan)
出处
《中国优生与遗传杂志》
2018年第8期52-54,共3页
Chinese Journal of Birth Health & Heredity
基金
湖南省卫生计生委科研计划课题项目(课题编号B2017179)
关键词
染色体微阵列技术
孕24w
超声微小病变
产前诊断
Chromosomal microarray analysis
24 weeks of pregnancy
Ultrasound minor lesions
Prenatal diagnosis
