摘要
目的:探讨新生儿脐血常规染色体核型分析的遗传学诊断意义。方法:回顾性分析石家庄市妇幼保健院2013年6—12月正常分娩的新生儿2 036例,采集新生儿脐血。常规外周血淋巴细胞培养,制备染色体标本,采用G显带技术进行常规细胞遗传学分析。结果:在2 036例新生儿脐血中,检出异常染色体核型16例(0.79%),其中常染色体异常13例(0.64%),包括21-三体3例(0.15%),末端缺失1例(0.05%),倒位3例(0.15%),平衡易位1例(0.05%),罗伯逊易位3例(0.15%),标记染色体2例(0.10%);性染色体异常3例(0.15%),包括47,XYY 2例(0.10%),46,XX,del(X)(q21)1例(0.05%)。检出多态变异核型181例(8.89%)。结论:应进一步加强妊娠期宣教,提高高危妊娠妇女的产前诊断率,如高危妇女未行产前诊断,应在新生儿阶段及早诊断。
Objective：To evaluate the clinical application of the chromosome karyotype of umbilical blood samples in genetic diagnosis. Methods：To analyze retrospectively the data of chromosome karyotype of umbilical blood samples in 2 036 newborns in our hospital from June to December 2013. The chromosome specimen was prepared by the method of conventional peripheral blood lymphocytes culture. Karyotype was analyzed by the Gbanding technique. Results：Totally,there were 16 cases（0.79%） of chromosome abnormalities in 2 036 cases,including 13 cases（0.64%） with autosomal abnormalities and 3 cases（0.15%） with sex chromosome abnormalities.There were 3 cases of 21-trisomy（0.15%）,a terminal deletion（0.05%）,3 cases of inversion（0.15%）,a balanced translocation（0.05%）,3 cases of Robertsonian translocation（0.15%） and two cases of marker chromosome（0.10%） in those autosomal abnormalities. There were 2 cases of 47,XYY（0.10%） and a 46,XX,del（X）（0.05%） in those sex chromosome abnormalities. There were also 181 cases（8.89%） of polymorphic variation karyotypes. Conclusions：We can increase the rate of prenatal diagnosis by improving the prenatal education.Those newborns should be diagnosed early in neonatal phase if pregnant women with high risks did not get prenatal diagnosis.
出处
《国际生殖健康／计划生育杂志》
CAS
2014年第6期478-480,共3页
Journal of International Reproductive Health/Family Planning
基金
河北省医学科学研究课题计划项目(20130626)
关键词
染色体
核型分析
染色体畸变
婴儿
新生
胎血
Chromosomes
Karyotyping
Chromosome aberrations
Infant
newborn
Fetal blood
