Prenatal diagnosis and clinical analysis of fetal sex chromosome abnormalities

REN Mei-hong; et al

doi:10.13406/j.cnki.cyxb.2010.06.032

您当前的位置：

首页 >

文章列表页 >

Prenatal diagnosis and clinical analysis of fetal sex chromosome abnormalities

更新时间：2024-01-17

- Prenatal diagnosis and clinical analysis of fetal sex chromosome abnormalities
- Journal of Chongqing Medical University Vol. 35, Issue 6, Pages: 903-904(2010)
- 作者机构：
  
  北京大学人民医院产前诊断中心
- 作者简介：
- 基金信息：
- DOI：10.13406/j.cnki.cyxb.2010.06.032
  CLC： R714.53
- Published：2010，
扫描看全文
[1]任梅宏,张璘,张晓红.性染色体异常的产前诊断及临床分析[J].重庆医科大学学报,2010,35(06):903-904.

REN Mei-hong, et al. Prenatal diagnosis and clinical analysis of fetal sex chromosome abnormalities. [J]. Journal of Chongqing Medical University 35(6):903-904(2010)
[1]任梅宏,张璘,张晓红.性染色体异常的产前诊断及临床分析[J].重庆医科大学学报,2010,35(06):903-904. DOI： 10.13406/j.cnki.cyxb.2010.06.032.

REN Mei-hong, et al. Prenatal diagnosis and clinical analysis of fetal sex chromosome abnormalities. [J]. Journal of Chongqing Medical University 35(6):903-904(2010) DOI： 10.13406/j.cnki.cyxb.2010.06.032.

摘要

目的:分析孕期不同高危指征与胎儿性染色体异常之间的关系

探讨性染色体异常综合征的产前诊断高危指征。方法:对2346例高危孕妇行孕中期羊膜腔穿刺术

制备羊水染色体并分析胎儿核型。结果:2346例羊水染色体核型分析中发现有16例（0.58%）性染色体异常

其中

X3例

X/46

XX1例

X/46

（iX）（q10;q10）1例

X/46

de（lX）（q11）1例

（iX）（q10;q10）1例

XXY4例

XYY1例

XXX2例

XY/47

XXY1例

inv（X）1例。结论:孕妇在孕期有高龄妊娠或唐氏筛查高危或B超显示胎儿脏器结构异常或胎儿淋巴水囊瘤等临床表现者

其胎儿存在性染色体数目或结构异常的风险。做好产前诊断是提倡优生优育的有力保障。

Abstract

Objectives:To analyze the association between fetal sexchromosome abnormalities and various high-risk indications during pregnancy. Methods:mid-trimester amniocentesis was used to detect fetal sex chromosomes in 2 346 high-risk pregnant women. Results:Among the 16 cases of abnormal sex chromosome

there were 3 cases of 45

1 case of 45

X/46

1 case of 45

X/46

i (X)(q10;q10)

1 case of 45

X/46

del(X)(q11)

1 case of 46

i(X)(q10;q10)

4 cases of 47

XXY

1 case of 47

XYY

2 cases of 47

XXX

1 case of 46

XY/47

XXY

and 1 case of 46

inv9(X). Conclusion:To reduce the number of abnormal fetuses

invasive prenatal diagnostic techniques are feasible tools for confirming fetal sex chromosomes abnormalities. Advanced maternal age

positive serum screening results or ultrasound shows fetal abnormalities or fetal hygroma were associated with a higher frequency of fetal sex chromosome abnormalities.

关键词

性染色体异常染色体核型分析产前诊断

Keywords

Sex chromosome abnormalitiesChromosomal karyotypeprenatal diagnosis

references

Views

302

下载量

CSCD

Alert me when the article has been cited

提交

Tools

Publicity Resources

A DIRECT METHOD TO OBTAIN CHROMOSOME METAPHASE FROM HUMAN CHORIONIC VILLI

A study on the relationship between the infection of human cytomegalovirus(HCMV) and the variation of kinetochore

Accuracy of maternal serum free fetal DNA for prenatal diagnosis of chromosomal abnormalities：a systematic review

Prenatal diagnosis and clinical outcome analysis of fetal cardiac rhabdomyoma

Related Author

彭勤

翁亚光

王应雄

刘学庆

何俊琳

陈雪梅

HE Xiaoling

XU Hongbing

Related Institution

重庆医学院妇产科遗传室研究生

重庆医科大学计划生育系遗传优生教研室

Department of Obstetrics and Gynecology，The First Affiliated Hospital of Chongqing Medical University

Department of Obstetrics, The First Affiliated Hospital of Chongqing Medical University

⁰