广州地区6000例羊水细胞染色体核型分析及其产前诊断价值探讨  

Investigation on 6000 cases of chromosomal karyotypes of amniotic fluid cells and their prenatal dianostic values in Guangzhou area

作　　者：刘海波[1] 丘文君[1] 郑育红[1] 赖炜强 孙筱放[1] 

机构地区：[1]广州医科大学附属第三医院妇产科研究所实验室/广东省产科重大疾病实验室,广州510150

出　　处：《重庆医学》2015年第15期2017-2019,2023,共4页Chongqing medicine

基　　金：国家自然科学基金资助项目(81302079);广州医科大学青年基金资助项目(2012C10);广州医科大学附属第三医院青年基金资助项目(2012Y15)

摘　　要：目的分析羊水细胞染色体,比较不同异常核型的发生率及其在产前诊断中的应用价值。方法选择2010年1月至2013年9月到该院就诊有产前诊断指征的孕妇6 000例,行羊膜腔穿刺术、传代法羊水细胞培养及胎儿染色体核型分析。结果 6 000例羊水培养成功5 994例(99.90%),异常核型193例(3.22%)。其中,染色体数目异常108例,占异常核型的55.96%,以21三体为主,占数目异常的67.59%(73/108);结构异常60例,占异常核型的31.09%,其中平衡性结构重排38例(19.69%),非平衡性结构重排22例(11.40%);嵌合体25例(12.95%)。将孕妇按进行穿刺的首要指征分为6组,血清学筛查高风险组和高龄组分别占受检人数41.62%和33.70%,B超检查示胎儿异常组和夫妇一方染色体异常组的核型异常检出率分别为5.56%和20.00%,与其他组比较差异有统计学意义(P<0.05)。结论传代法羊水细胞体外培养对核型分析具有实用性。羊水染色体核型分析是安全、有效的诊断胎儿染色体病的方法。Objective To analyze the chromosoms of amniotic fluid cells ,to compare the occurrence rate of different karyo‐types an dto investigate their application values in prenatal diagnosis .Methods A total of 6 000 pregnant women with the prenatal diagnostic indications came to our hospital from January 2010 to September 2013 were performed the amniocentesis ,amniotic fluid cell passage culture and fetal chromosomal karyotypes analysis .Results Among 6 000 cases of amniotic fluid cell culture ,5 594 ca‐ses（99 .90% ） were succeeded and 193 cases（3 .22% ） were abnormal karyotypes ,in which 108 cases were the chromosomal number‐ical abnormality ,acounting for 55 .96% of abnormal karyotypes ,Down′s syndrome was predominant and accounted for 67 .59% of chromosomal numberical abnormality .There were 60 cases （31 .09% ） of chromosomal structural abnormality including 38 cases （19 .69% ） of balanced structural rearrangements and 22 cases（11 .40% ） of non‐balanced structural rearrangements .There were 25 cases（12 .95% ） of chimera .The pregnant women were divided into 6 groups according to the amniocentesis chief indication ,the high risk group and high age group of serological screening accounted for 41 .62% and 33 .70% of the detected person number .The detection rates of karyotype abnormality in the fetal B ultrasonographic abnormality group and the couple one party chromosomal abnornality group were 5 .56% and 20 .00% ,respectively ,which were significantly different from other groups （P〈0 .05） .Conclu‐sion The amniocyte subculture in vitro is practicable for the karyotype analysis .The karyotype analysis of amniotic fluid chromo‐somes is a safe and effective method for diagnosing the fetal chromosomal diseases .

关 键 词：产前诊断 羊水 细胞培养 核型分析 

分 类 号：R714.5[医药卫生—妇产科学]