203例孕妇羊水染色体检测结果分析

Analysis of the results of amniotic fluid chromosome detection among 203 pregnant women

目的通过对孕妇孕中期羊水染色体检测结果的分析,探讨羊膜腔穿刺羊水染色体检查技术在产前诊断中的应用价值。方法对2013年6月-2017年12月间在河南省平顶山市妇幼保健院就诊的产前血清学筛查高风险孕妇、高龄孕妇(年龄35~42岁)、B超显示胎儿异常孕妇及因其他因素(如不良妊娠史、异常家族史等因素)需要进行产前诊断的孕妇,在孕18~24周进行羊膜腔穿刺羊水染色体检查,并对检查结果进行比对分析。结果 203例参加检测的羊水中,检出胎儿染色体异常22例,总检出率为10. 83%。其中产前筛查高危组的染色体畸变检出率为6. 12%、高龄孕妇组的染色体畸变检出率为8. 00%、B超异常组的染色体畸变检出率为37. 50%、其他组的染色体畸变检出率9. 67%。结论羊膜腔穿刺羊水染色体检查能检测胎儿的所有染色体数目异常和大片段的染色体结构异常,是目前胎儿染色体疾病产前诊断的"金标准"。

Objective To investigate the amniocentesis amniotic fluid chromosomal examination technique in prenatal diagnosis by analyzing the results of chromosomal detection of amniotic fluid in the second trimester of pregnancy.Methods From June 2013to December 2017,the pregnant women with high-risk prenatal serological screening,advanced age (aged between 35-42years old),Bdisplay abnormal fetal or other factors (such as adverse pregnancy history,abnormal family history,etc.)required prenatal diagnosis in our hospital.They were performed amniocentesis in amniotic fluid during 18-24weeks of pregnancy.The inspection results of them were analyzed.Results A total of 203cases of amniotic fluid participating in the test,fetal chromosomal abnormalities were detected in 22cases,the total detection rate was 10.83%.Among the results,the proportions of cases with high-risk prenatal serological screening were 6.12%(6/98),advanced age were 8%(4/50),B-display abnormal fetal were 37.5%(9/24),and other factors were 9.67%(3/31).Conclusion The abnormal chromosome number and chromosome structure with large segments of the fetus can be detected by amniocentesis of amniotic fluid.It is the "gold standard"for the prenatal diagnosis of fetal chromosome disease.