产前诊断中染色体异常核型的细胞遗传学及临床分析

Cytogenetic and clinical findings of chromosomal abnormalities on prenatal diagnosis

目的探讨264例产前诊断中染色体异常核型的细胞遗传学及临床特点,为孕早中期孕妇的妊娠提供理论依据。方法对2011年2月至2015年12月,在我院进行孕早期绒毛及孕中期羊水染色体检查的4562例标本中的264例染色体异常核型病例进行回顾分析。结果 264例异常核型中252例来自孕中期羊水检查,12例来自孕早期绒毛检查。异常核型的分布主要为Down′s综合征(21三体)161例,18三体34例,13三体9例,Turner综合征(45,X)31例,结构异常25例,其它4例。异常核型的产前指征分布主要为唐氏筛查高风险127例,高龄妊娠79例,超声软指标23例,不良孕产史12例,易位携带者12例,NT增厚4例,无创产前筛查高风险4例,其它3例。结论胎儿异常核型主要来自高龄妊娠、唐氏筛查高风险及超声软指标异常等高危孕妇,最为常见的异常核型为Down′s综合征及Turner综合征等非整倍体异常。羊水穿刺及绒毛取样能准确有效的检出胎儿染色体疾病。

Objective：To explore the cytogenetic and clinical characteristics of 264 cases with abnormal karyotyping on prenatal diagnosis. Methods：Retrospectively analyzed and reviewed the chromosomal abnormalities of 264 cases during the period of study from February 2011 to December 2015. Result：Chromosomal abnormalities were distributed in Downs Syndrome 161 cases,34 cases of trisomy 18,9 cases of trisomy 13 and 31 cases of Turner Syndrome. Conclusion：Down′s Syndrome and Turner Syndrome are the most common chromosomal abnormalities on prenatal diagnosis. Chromosomal disease can effectively and accurately detected by chromosomal karyotyping through amniocentesis and chorionic villi.