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染色体异常与不良孕产史的关系研究

ISSN号：1001-4411
期刊名称：《中国妇幼保健》
时间：0
分类：R173[医药卫生—妇幼卫生保健;医药卫生—公共卫生与预防医学]
作者机构：[1]广西壮族自治区妇幼保健院遗传代谢中心实验室,广西南宁530023
相关基金：广西自然科学基金（桂科自0832182）广西医疗卫生重点科研课题（重2012020）

关键词：不良孕产史, 染色体异常, 染色体多态性, Adverse pregnancy history, Chromosomal abnormality, Chromosomal polymorphism

中文摘要：

目的探讨染色体异常与不良孕产史之间的关系，并分析异常染色体的检出率和类型，为优生遗传咨询提供临床参考依据。方法选取2011年1月～2013年12月在该院就诊的2834对有不良孕产史的夫妇，对其行外周血染色体检查。结果2834对夫妇（5668例）中，染色体异常检出817例，检出率为14．41％（817／5668）。其中染色体多态633例，检出率为11.17％（633／5668）；常染色体异常140例，检出率为2．47％（140／5668）；性染色体异常36例，检出率为0．64％（36／5668）；标记染色体8例，检出率为0．14％（8／5668）。817例染色体异常患者中，习惯性流产或胚胎停育史527例，占64．50％（527／817）；染色体异常儿孕产史198例，占24．24％（198／817）；畸胎史60例，占7．34％（60／817）；先天性疾病患儿孕产史17例，占2．08％（17／817）；死胎死产14例，占1．71％（14／817）；早产1例，占0．12％（1／817）。结论染色体异常是导致不良孕产史的重要遗传学因素，行染色体检查可以对有不良孕产史的夫妇行生育指导。

英文摘要：

Objective To explore the relationship between chromosomal abnormalities and adverse pregnancy history, analyze the detection rates and types of chromosomal abnormalities, provide reference basis for clinical eugenic and genetic counseling. Methods A total of 2 834 couples with adverse pregnancy history were selected from the hospital from January 2011 to December 2013, peripheral blood chromosomal examination was performed. Results Among 2 834 couples （5 668 cases） , 817 cases were diagnosed as chromosomal abnormalities, the detection rate was 14. 41% （817/5 668）, including 633 cases with chromosomal polymorphism （11.17%, 633/5 668）, 140 cases with aUtosomal abnormalities （2.47% , 140/5 668 ） , 36 cases with sex chromosomal abnormality （0. 64% , 36/5 668 ） , 8 cases with marker chromosomes （0. 14% , 8/5 668） . Among 817 cases with chromosomal abnormalities, 527 cases were found with habitual abortion or embryo damage history, accounting for 64. 50% （527/817） ; 198 cases were tbund with pregnancy history of fetuses with chromosomal abnormalities, accounting for 24. 24% （198/817） ; 60 cases were found with fetal deformities history, accounting for 7.34% （60/817） ; 17 cases were found with pregnancy history of fetuses with congenital diseases, accounting for 2. 08% （ 17/817 ） ; 14 cases were found with still- birth, accounting for 1.71% （14/817） ; one case was found with preterm delivery, accounting for 0. 12% （1/817） . Conclusion Chromosomal abnormality is one of the important genetic causes of adverse pregnancy history, chromosomal examination can provide reproductive guidance for the couples with adverse pregnancy history.

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