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目的探讨孕早期产前诊断中绒毛染色体嵌合的形成机制及临床特征。方法对2011年5月至2016年10月,在我院行绒毛染色体核型分析并检出为嵌合体的25病例进行回顾性研究分析。结果 25例嵌合体病例中,15例两性嵌合、3例三体嵌合和1例45,X/46,XX嵌合经羊水复查被证实为母体污染;2例三体嵌合和2例45,X/46,XX与羊水核型复查结果一致;2例三体嵌合经羊水核型复查结果正常,证实为限制性胎盘嵌合体。结论孕早期绒毛取样行产前染色体核型分析易导致染色体嵌合,大部分为母体组织污染所致,少部分存在胎盘限制性嵌合体。进一步羊水染色体检查能有效诊断绒毛嵌合体是否因母体组织污染或胎盘限制性嵌合体所导致,从而为产前咨询提供科学依据。
Objective To investigate the formation mechanism and clinical features of chorionic chimerism during prenatal diagnosis in early pregnancy. Methods From May 2011 to October 2016, we retrospectively analyzed 25 cases of chromosomal karyotype analysis and detected as chimera in our hospital. Results Among 25 cases of chimerism, 15 cases of maternal chimerism, 3 cases of trisomy and 1 case of 45, X / 46, XX chimera were confirmed as maternal contamination by chorionic reconstitution. Two cases of trisomy and 2 cases 45, X / 46, XX consistent with the amniotic fluid karyotype review; 2 cases of trisomy chimeric by amniotic fluid nuclear review results were normal, confirmed as restricted placental chimerism. Conclusion The prenatal chromosome karyotype analysis in the first trimester of villus sampling can lead to chromosomal chimerism, most of which is caused by maternal tissue contamination, and the placenta restrictive chimeras exist in a small part. Further amniotic fluid chromosomal examination can effectively diagnose villus chimerism is caused by maternal tissue contamination or placental restriction chimerism resulting in prenatal counseling to provide a scientific basis.