高龄孕妇孕早期绒毛组织染色体核型分析

96例绒毛产前诊断的细胞遗传学分析
王志勇;韩梅;李荣梅;马云秀;吉春霞;司红霞
【期刊名称】《中国优生与遗传杂志》
【年(卷),期】1992(0)4
【摘要】应用绒毛细胞直接制片进行染色体分析,是产前诊断胎儿染色体病和遗传性疾病的主要方法之一,是达到优生的有效措施。

作者自1988年7月至1991年10月,对有产前诊断指征的孕妇96例进行了绒毛细胞制备染色体核型分析,发现染色体异常儿4例,现将结果报告如下。

对象和方法自遗传咨询门诊选择对象是:高龄孕妇,生育染色体病儿或神经管缺陷的孕妇、孕初期有过发烧或病毒感染史者、孕初期曾接受过较大剂量的放射线、同位素以及长期接触其它有害物的。

【总页数】2页(P30-10)
【关键词】产前诊断;绒毛细胞;细胞遗传学分析;染色体病;神经管缺陷;染色体异常;染色体分析;染色体核型分析;病毒感染史;三体
【作者】王志勇;韩梅;李荣梅;马云秀;吉春霞;司红霞
【作者单位】河南省柘城县人民医院
【正文语种】中文
【中图分类】R394
【相关文献】
1.产前诊断与宫内治疗：如何取绒毛及羊水进行产前诊断 [J], 丁琰
2.早期妊娠经腹取绒毛标本细胞遗传学的产前诊断 [J], Ther.,AJ;方凤鸿
3.早孕期经腹绒毛活检及细胞遗传学分析在染色体疾病产前诊断中的应用 [J], 戚庆炜;周继铭
4.463例高龄孕妇产前诊断细胞遗传学结果分析 [J], 袁慧珍;刘艳秋;黄婷婷;周萍;黎俏
5.高龄孕妇细胞遗传学产前诊断结果和遗传咨询分析 [J], 单春霞
因版权原因，仅展示原文概要，查看原文内容请购买。

#遗传与优生#30例体外受精-胚胎移植后流产绒毛原代培养及染色体核型分析¹何国平 刘雨生º童先宏 周桂香 宋雅娴 骆丽华 陈 玲»胡美虹 安徽医科大学附属省立医院生殖医学中心(安徽 合肥) 230001中国图书分类号 R596 文献标识码 A 文章编号 1001-4411(2011)03-0400-03¹安徽省卫生厅医学科研项目109B1152安徽省立医院三新项目1(2010)15号2º通讯作者»=摘 要> 目的:分析30例体外受精-胚胎移植(IVF -ET )流产胚胎绒毛染色体核型组成,探讨流产原因。

方法:收集30例I V F -ET 流产胚胎绒毛,行体外原代培养、染色体制备及核型分析。

观察既往不同流产次数对胚胎绒毛染色体异常率的影响;按流产胚胎性别,分析性别差异与染色体异常率间的关系。

结果:30例I V F-ET 流产胚胎绒毛体外培养成功30例,成功率100%。

30例标本中染色体异常核型20例,占66170%,其中三体核型14例,21单体型1例,多倍体1例,嵌合体2例,其他异常核型2例。

单次流产史患者13例,胚胎异常核型9例(69123%);反复流产(\2次)史患者17例,胚胎异常核型11例(64171%),两组间比较无显著性差异。

14例男胎中异常核型10例,占71142%;15例女胎中异常核型9例,占60100%,两组比较差异有统计学意义(P <0105)。

结论:胚胎染色体异常是I VF -ET 早期自然流产的主要原因,绒毛染色体检查对寻找I VF -ET 失败原因具有重要的指导意义。

=关键词> 体外受精-胚胎移植 流产 绒毛原代培养 核型分析Pri m ary culture of villi i n 30cases of spontaneous aborti on after i n vitro fertilizati on -e mbryo transfer and anal ysis on chro moso m al karyotypeHE Guo -P ing,LIU Yu -Sheng,TONG X i a n -H ong et al 1C en ter of R e p roductiveM ed icine ,Anhui P rovincialH os p ital Affili a ted to AnhuiM e d ical Universit y ,H efei 230001,Anhu i ,China1Abstract 2 O b ject i ve :T o analyze t he compositi on o f chrom oso m a l karyo type o f v illi i n 30cases o f spontaneous abo rti on a fter in v itro fertili zati on-e m bryo transfer (IVF -ET ),exp l o re t he causes o f aborti on 1M ethods :T he v ill us tissues o f 30cases of spontaneous a -borti on after I VF -ET w ere collec ted ,then pr i m ary culture i n v itro ,chromo so m a l prepara ti on and karyo type analysis were perfor m ed ;the effect o f abo rti on ti m es on inc i dence o f chro m osom al abnor m ality i n v illi was observed ;the relati onship bet w een gender difference and i nc-i dence of chrom oso m a l abno r m ality w as ana l yzed acco rd i ng to e m bryo sex 1R esu lts :The success ra te o f pri m ary culture o f v illi i n v itro w as 100%;20cases w ere f ound w it h abno r m al chro m osoma l karyo type ,accounti ng for 66170%,inc l udi ng 14cases o f tr i so m e karyo type ,1case o f 21m onosom e karyotype ,1case o f po l yp l o i dy ka ryotype ,2cases of chi m era ka ryotype and 2cases of o t her abnor m al karyo t ype ;13cases had the history o f abo rti on once ,9casesw ere found w ith abnor m a l e m bryo ka ryotype (69123%);17cases had the h i story o f recurrent abo r -ti on (mo re t han 2ti m es),11cases w ere found w ith abnor m a l e m bryo karyo t ype (64171%),t here w as no si gnificant d ifference bet w een the t wo g roups (P <0105)1Con clusi on:Chromo so m a l abnor m ality o f fetus is a m ain cause o f ear l y spon taneous abo rtion i n cases receiv i ng I VF -ET ,chromo so m a l exam ina tion o f v illi has i m po rtan t d irec ti ve sign ificance in fi nd i ng the causes of I VF -ET fa il ure 11K ey words 2 In v itro fertili zati on-e m bryo transfer ;A bortion ;P ri m a ry culture o f v ill;i K aryotype analysis 体外受精-胚胎移植(In v itro fertilization and e m bryo transfer ,I V F -ET )是一项被普遍接受的辅助生育常规治疗手段。

作者单位：528415　广东中山，南方医科大学附属小榄医院检验科通信作者：郑文婷，Email ：****************DOI ：10.3969/j.issn.1674-7151.2021.01.017156例自然流产绒毛细胞培养及染色体核型分析郑文婷 尹志军 黄雪珍【摘要】 目的 探讨染色体核型分析在自然流产查因中的应用。

方法 选择2019年1—12月于南方医科大学附属小榄医院就诊的156例自然流产患者作为研究对象，对所有患者进行绒毛细胞培养与G 显带核型分析，计算培养成功率，分析染色体异常检出率及主要异常类型。

结果 156例自然流产孕妇中绒毛培养成功144例，培养成功率为92.3%，其中28～34岁和35～40岁年龄段患者的标本培养成功率分别为96.1%（98/102）和85.2%（46/54）；9例因染菌导致培养失败，3例因胚胎停育时间过长、标本活性差、细胞不贴壁导致培养失败。

检出染色体异常70例，异常检出率为48.6%，其中常染色体非整倍体44例、性染色体非整倍体16例、三倍体7例、四倍体1例、染色体结构异常2例，异常核型以X 单体〔22.9%（16/70）〕、16三体〔20.0%（14/70）〕、22三体〔15.7%（11/70）〕、21三体〔10.0%（7/70）〕和三倍体〔10.0%（7/70）〕为主。

结论 染色体异常是导致自然流产的重要原因，对流产绒毛进行染色体核型分析有助于查明自然流产的原因，以便指导患者以后的生育并进行必要的产前诊断。

【关键词】 自然流产； 绒毛； 核型分析； 细胞培养Cell culture and karyotype analysis of spontaneous abortion villi in 156 casesZheng Wenting, Yin Zhijun, Huang Xuezhen. Clinical Laboratory, Xiao Lan Hospital Affiliated to Southern Medical University, Zhongshan 528415, Guangdong, ChinaCorrespondingauthor:ZhengWenting,Email:****************【Abstract 】 Objective To investigate the application of karyotyping in detection of the causes for spontaneous abortion. Methods 156 patients of spontaneous abortion villi admitted in Xiao Lan Hospital Affiliated to Southern Medical University from January to December 2019 were selected as research objects. The villus cell culture and G -banding karyotype analysis were performed in all patients, the success rate of culture was calculated, the detection rate of chromosomal abnormalities and main types of abnormalities were analyzed. Results In 156 patients of spontaneous abortion, 144 cases of villus culture were successful, the success rate was 92.3%. Nine cases failed due to infection of bacteria, 3 cases failed due to prolonged embryo suspension, poor specimen activity and non adherent cell culture. The success rates of specimen culture of 28-34 year old and 35-40 year old patients were 96.1% (98/102) and 85.2% (46/54). Forty -four cases were detected as autosomal aneuploidy, 16 cases were sex chromosome aneuploidy, 7 cases were triploidy, 1 case was tetraploid and 2 cases were structural abnormality. The abnormal karyotypes were mainly X monomer [22.9% (16/70)], 16 trisomy [20.0% (14/70)], 22 trisomy [15.7% (11/70)], 21 trisomy [10.0% (7/70)] and triploid [10.0% (7/70)]. Conclusions Chromosomal abnormality is an important cause for spontaneous abortion. Karyotype analysis of abortion villi is helpful to identify the causes of spontaneous abortion and guide the patients who will be pregnant again and to make necessary prenatal diagnosis.【Key words 】 Spontaneous abortion; Villi; Karyotyping;　Cell culture自然流产是指妊娠不足28周、胚胎/胎儿体重不足1 000 g 的宫内妊娠自然终止，分为早期自然流产（＜12周）和晚期自然流产（12～28周）。