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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 investigate the cytogenetics and clinical features of chromosomal abnormal karyotypes in 264 cases of prenatal diagnosis and to provide a theoretical basis for the pregnancy of pregnant women in the early and middle stages of pregnancy. Methods From February 2011 to December 2015, 264 cases of chromosomal abnormalities karyotype in 4562 specimens of first trimester pregnancy and second trimester amniocentesis were retrospectively analyzed. Results 252 cases of abnormal karyotype 252 cases from the second trimester of amniotic fluid examination, 12 cases from the first trimester villus examination. Abnormal karyotype distribution mainly Down’s syndrome (trisomy 21) 161 cases, 18 trisomy 34 cases, 13 trisomy 9, Turner syndrome (45, X) 31 cases, 25 cases of structural abnormalities, the other 4 example. Abnormal karyotype distribution of prenatal indications for Down’s screening of 127 cases of high risk of screening, 79 cases of advanced pregnancy, soft ultrasound 23 cases, 12 cases of adverse pregnancy, translocation carriers in 12 cases, NT thickening in 4 cases , Non-invasive prenatal screening high risk 4 cases, the other 3 cases. Conclusion The abnormal fetal karyotype mainly comes from high-risk pregnancies, Down’s syndrome and Turner’s syndrome. Amniocentesis and villus sampling can accurately and effectively detect fetal chromosomal diseases.