38例胎儿羊水染色体核型异常及其父母外周血染色体的临床分析

Clinical analysis of 38 cases of amniotic chromosomal abnormalities and their parents peripheral blood chromosome analysis

目的通过对胎儿染色体和胎儿父母外周血染色体核型分析探讨异常染色体的来源。方法对2013年1月到2015年8月38例来我院进行产前诊断发现胎儿羊水染色体核型异常并召回胎儿父母或之一做外周血染色体核型分析。结果 38例胎儿核型异常中,18例多态性和13例结构异常为遗传双亲之一,1例多态性嵌合体为新发的,3例结构异常和3例数目异常为新发的异常。而被召回的夫妇或之一的多态性异常占异常比例的64%,其中以9号染色体倒位和Y染色体多态性为常见,而染色体的结构异常是导致流产的一个重要因素。结论产前诊断发现胎儿染色体异常时建议其父母做外周血染色体核型分析来确认异常染色体的来源,对于指导临床干预,对于降低人口出生缺陷具有重大的意义。

Objective：Based on fetal chromosomal and fetal parents peripheral blood karyotype analysis to explore the sources of the abnormal chromosomes. Methods：We retrospectively analyzed karyotypes of the patients to our hospital for prenatal diagnosis from January 2013 to August 2015,and recalled the 38 cases parents whose fetal chromosomal abnormalities for peripheral blood karyotype analysis. Results：In 38 cases of abnormal fetal karyotypes,18 cases of polymorphism and 13 cases of abnormal structure are both inherited from one of the parents,1 case with polymorphism chromosomal mosaic,3 cases with abnormal structure and 3 cases with abnormal number are for genetic mutations. Couples have been recalled in accounted for the number of abnormal of 64%,of which 9 chromosome inversion and Y chromosome polymorphism are common,and the structure of chromosome abnormality is one of the important factors that lead to miscarriage. Conclusion：We suggested the parents whose fetal chromosomal abnormalities in prenatal diagnosis do peripheral blood karyotype analysis,that can identify the sources of the abnormal chromosome.It is great significance for guiding clinical intervention and reducing the population birth defects.