原位培养羊水细胞的染色体核型分析

目的探讨不同产前诊断指征孕妇胎儿异常染色体核型发生率和原位培养羊水细胞染色体嵌合体发生率及相关临床意义。方法在超声引导下对14455例具有产前诊断指征的孕妇实施羊膜穿刺抽取羊水进行染色体核型分析,对异常染色体核型进行统计,并对涉及13号、18号、21号或性染色体的嵌合体病例采用荧光原位杂交技术(FISH)进行检测。结果14455例羊水细胞染色体核型中发现异常核型439例,异常核型率为3.0%。包括21-三体194例,18-三体81例,13-三体5例,倒位25例,易位51例,缺失16例,重复13例,性染色体异常54例。嵌合体一共38例,嵌合率为0.26%,其中涉及13号、18号、21号或性染色体的共23例,其核型与FISH结果显示嵌合一致有22例,不一致1例。结论对具有产前指征的孕妇进行羊水细胞染色体核型分析,可以减少染色体病患儿的出生。原位培养羊水细胞可提高染色体嵌合体的诊断,FISH是核型分析的有效补充。

Chromosome karyotype analysis of in situ cultured amniotic fluid cells

Objective To investigate the incidence of fetal abnormal chromosome karyotypes in pregnant women with different prenatal diagnosis indications,and the incidence of chromosomal chimeras in in situ cultured amniotic fluid cells and their clinical significance.Methods Under the guidance of ultrasound,14455 pregnant women with prenatal diagnosis indications were performed amniocentesis to extract amniotic fluid for karyotype analysis.The abnormal chromosome karyotype was counted,and chimeric cases involving 13,18,21 or sex chromosomes were detected by fluorescence in situ hybridization(FISH).Results Among the chromosomal karyotypes of 14455 cases,abnormal karyotypes were found in 439 cases,with an abnormal karyotype rate of 3.0%.There were 194 cases of trisomy 21,81 cases of trisomy 18,5 cases of trisomy 13,25 cases of inversion,51 cases of translocation,16 cases of deletion,13 cases of duplication,and 54 cases of sexual chromosomal abnormalities.There were 38 cases of chimerism with a chimerism rate of 0.26%,of which 23 cases involved 13,18,21 or sex chromosomes.The karyotype and FISH results showed that there were 22 cases with consistent chimerism and 1 case with non-uniformity.Conclusion Analysis of the karyotype of amniotic fluid cells in pregnant women with prenatal indications can reduce the birth of children with chromosomal disease.In situ culture of amniotic fluid cells can improve the diagnosis of chromosomal chimeras.FISH is an effective complement to karyotype analysis.