614例孕中期羊水细胞染色体核型分析  

Analysis of chromosome karyotype of amniotic fluid in 614 cases of women in the second trimester of pregnancy

作　　者：杜静[1] 唐登燕 赵佳[1] 王娇[1] 张兵[1] 周晓萍[2] DU Jing;TANG Dengyan;ZHAO Jia;WANG Jiao;ZHANG Bing;ZHOU Xiaoping(Department of Laboratory,Nanchong Central Hospital Affiliated to North Sichuan Medical College,Nanchong 637000,Sichuan,China;Department of Laboratory,The First Affiliated Hospital of Chengdu Medical College,Chengdu 610500,China)

机构地区：[1]川北医学院附属南充市中心医院检验科,四川南充637000 [2]成都医学院第一附属医院检验科,四川成都610500

出　　处：《西部医学》2023年第10期1550-1554,共5页Medical Journal of West China

基　　金：成都市卫健委医学科研课题(2022235)。

摘　　要：目的探讨孕中期羊水细胞染色体核型分析结果及不同产前诊断指征下异常核型检出率。方法纳入2018年12月—2022年3月在川北医学院附属南充市中心医院行羊膜腔穿刺术的614例孕妇染色体核型分析结果进行回顾性分析。对产前诊断指征进行分类总结,并对不同产前指征下正常、异常核型进行比较,分析不同产前诊断下羊水细胞培养及染色体核型结果对临床遗传咨询价值。结果614例羊水样本中共检出33例异常核型,检出率为5.37%。异常核型中染色体数目异常(含嵌合体)21例,结构异常11例,同时出现数目及结构异常的1例。高龄、产筛高风险、B超异常、NT>2.5 mm、不良孕产史及用药史、无创DNA高风险、夫妻一方染色体异常这7类产前诊断指征中的异常核型检出率分别为2.53%、3.89%、2.7%、12.82%、3.03%、42.11%、40%。异常核型检出率在无创DNA高风险及夫妻一方染色体异常这两个指征中最高,二者间差异无统计学意义(P>0.05);NT>2.5 mm指征排第三;其余四种指征异常核型检出率最低,四种指征间差异无统计学(P>0.05)。结论羊水细胞培养及染色体核型分析技术对预防缺陷儿出生具有重要意义。产前诊断指征中,无创高风险与夫妻一方染色体异常指征对羊水异常核型的检出率最高。Objective To explore the clinical genetic counseling value of amniotic fluid cell culture and chromosome karyotype analysis in the second trimester of pregnancy.Methods The karyotype analysis results of 614 pregnant women who underwent amniocentesis in our hospital from December 2018 to March 2022 were analyzed retrospectively.Results 33 abnormal karyotypes were detected in 614 amniotic fluid samples,and the detection rate was 5.37%.Among the abnormal karyotypes,there were 21 cases with abnormal number(including chimera),11 cases with abnormal structure,and 1 case with abnormal number and structure at the same time.The detection rates of abnormal karyotypes in seven types of prenatal diagnostic indications were 2.53%,3.89%,2.7%,12.82%,3.03%,42.11%and 40%respectively.The detection rate of abnormal karyotype was the highest in the two indications of high risk of noninvasive DNA and chromosome abnormality of one spouse,and there was no significant difference between them;Indications with NT>2.5mm ranked third;The detection rate of abnormal karyotype of the other four indications was the lowest,and there was no significant difference among the four indications.Conclusion Amniotic fluid cell culture and chromosomal karyotype analysis techniques are of great significance in preventing the birth of defective infants.Among the indications for Prenatal testing,the highest detection rate of amniotic fluid abnormal karyotypes is non-invasive high-risk and spouse chromosome abnormality indications.

关 键 词：产前诊断 染色体核型分析 羊水细胞培养 异常核型检出率 

分 类 号：R714.55[医药卫生—妇产科学]