胎儿染色体结构异常的细胞遗传学分析  

Analysis of fetus chromosome structural abnormalities at prenatal diagnosis

作　　者：罗小金[1] 韦升市 丛潇怡 宿宁[1] 温丽娟[1] LUO Xiao-jin, WEI Sheng-shi, CONG Xiao-yi, SU Ning, WEN Li-juan(Shenzhen Longgang District Maternity and Child Health Care Hospital, Guangdong Shenzhen 518172)

机构地区：[1]深圳市龙岗区妇幼保健院,广东深圳518172

出　　处：《中国优生与遗传杂志》2018年第3期39-40,8,共3页Chinese Journal of Birth Health & Heredity

基　　金：深圳市龙岗区重点科技计划项目(YLWS201606101 55624914)

摘　　要：目的通过对产前诊断中胎儿染色体结构异常的妊娠指征及妊娠结局进行分析,为孕妇的产前咨询和妊娠选择提供理论依据。方法对2011年5月至2017年9月,在我院产前诊断中心检出的72例染色体结构异常胎儿进行回顾性研究分析。结果 72例染色体结构异常中倒位32例,相互易位18例,非平衡易位16例,复杂重排3例及其它结构异常3例。72例病例中21例选择终止妊娠,其中非平衡易位16例,复杂重排1例、涉及X染色体与常染色体相互易位1例及其他结构异常3例,其余51例均选择继续妊娠。结论胎儿染色体结构异常是产前诊断中常见的染色体疾病,其发病率仅次于数目异常,主要为染色体相互易位、倒位及非平衡易位等。非平衡易位由于涉及大量遗传物质的增加或丢失,易导致胎儿产生临床表型特征。Objective：To analyze the pregnant indications and pregnant outcome of fetus chromosome structural abnormalities at prenatal diagnosis,to provide scientific guidelines for pregnant women. Methods：Analyzed and reviewed 72 cases of fetus structural abnormalities at prenatal diagnosis from May 2011 to October 2017. Results：Inversion were 32 cases,reciprocal translocation were 18 cases,unbalanced translocation were 16 cases,multiple arrangements were 3 cases and others 2 cases among 72 fetus structural abnormalities. Conclusion：Fetus structural abnormality is the most common disease at prenatal diagnosis. unbalanced translocations due to gene complement increased or lost,most of them chose to terminate preanancy.

关 键 词：绒毛 染色体 结构异常 产前诊断 

分 类 号：R596.1[医药卫生—内科学]