国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2014, Vol. 33 ›› Issue (6): 478-480.

• 论著 • 上一篇    下一篇

2 036例新生儿脐血染色体核型分析

杨会欣，封纪珍，魏淑彦，李天洁，贾立云，范红芳，李扬

  

  1. 050000 石家庄市妇幼保健院优生遗传科
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2014-11-15 发布日期:2014-11-15
  • 通讯作者: 封纪珍

Chromosome Karyotype Analysis of Umbilical Blood Samples in 2 036 Newborns

YANG Hui-xin，FENG Ji-zhen，WEI Shu-yan，LI Tian-jie，JIA Li-yun，FAN Hong-fang，LI Yang   

  1. Department of Heredity and Birth Health，Maternal and Child Health Care Hospital，Shijiazhuang 050000，China
  • Received:1900-01-01 Revised:1900-01-01 Published:2014-11-15 Online:2014-11-15
  • Contact: FENG Ji-zhen

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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。

关键词: 染色体, 核型分析, 染色体畸变, 婴儿, 新生, 胎血

Abstract: 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 G-banding 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.

Key words: Chromosomes, Karyotyping, Chromosome aberrations, Infant, newborn, Fetal blood