810例新生儿脐血染色体核型结果分析

The chromosome karyotype analysis of 810 newborns umbilical blood

目的统计810例新生儿脐血染色体畸变发生率,分析染色体畸变对出生缺陷发生的影响。方法常规外周血淋巴细胞培养法制备染色体标本,采用G显带技术进行细胞遗传学分析。结果在受检的810例新生儿中,检出异常核型17例,其中数目异常6例:47,XYY 1例,47,XY,+21 3例,47,XX,+Mar 2例;结构异常11例:45,XX,rob(13;14)1例,46,XX,del(5)(p13)1例,46,XY,inv(9)(p11q13)5例,46,XX,inv(9)(p11q13)2例,46,XX,inv(10)(q11q22)1例,46,XY,inv(12)(q13q24)1例。结论 810例新生儿脐血染色体核型分析结果表明染色体畸变发生率为2.1%,其中47,XY,+21发生率为0.37。鉴于染色体畸变发生率高,建议脐血染色体检查应作为新生儿常规筛查项目,从而提高遗传咨询水平,减少出生缺陷发生。

Objective ： To investigate the statistical chances of chromosomal abnormalities in 810 cases of neonatal umbilical cord blood and discuss the influence of chromosome aberration in birth defects. Methods ： The chromosome specimen was prepared by the method of conventional peripheral blood lymphocytes culture and analyzed by the G-banding technique. Results ： There were seventeen cases of chromosome abnormalities in 810 cases of neonatal. There are six cases with numeral abnormalities including one case of 47, XYY, three cases of 47, XY, ＋21 and two cases of 47, XX, ＋Mar. There are eleven cases with structural abnormalities including one case of 45, XX, rob （ 13 ; 14）, one case of 46, XX, del （5） （p 13 ）, five cases of 46, XY, inv （9） （pl lq13）, two cases of 46, XX, inv （9） （pllq13）, one case of 46, XX, inv （10） （qllq22）and one case of 46, XY, inv （12） （q13q24）. Conclusion ： 810 cases of neonatal umbilical cord blood karyotype analysis results showed that the chromosome aberration rate was 2.1%, among them the incidence of 47, XY, ＋ 21 was 0.37. Given the high incidence of chromosome aberration, the umbilical cord blood chromosome examination should be as routine screening project, so as to improve the level of genetic counseling and reduce birth defects.