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王莹, 袁春雷, 干志峰, 梁少霞, 王德刚, 方小武. 妊娠中晚期胎儿2948例染色体核型分析[J]. 中国公共卫生, 2010, 26(12): 1594-1595. DOI: 10.11847/zgggws2010-26-12-63
引用本文: 王莹, 袁春雷, 干志峰, 梁少霞, 王德刚, 方小武. 妊娠中晚期胎儿2948例染色体核型分析[J]. 中国公共卫生, 2010, 26(12): 1594-1595. DOI: 10.11847/zgggws2010-26-12-63
WANG Ying, YUAN Chun-lei, GAN Zhi-feng, . Chromosomal karyotype analysis for 2948 fetuses in mid-or late pregnancy[J]. Chinese Journal of Public Health, 2010, 26(12): 1594-1595. DOI: 10.11847/zgggws2010-26-12-63
Citation: WANG Ying, YUAN Chun-lei, GAN Zhi-feng, . Chromosomal karyotype analysis for 2948 fetuses in mid-or late pregnancy[J]. Chinese Journal of Public Health, 2010, 26(12): 1594-1595. DOI: 10.11847/zgggws2010-26-12-63

妊娠中晚期胎儿2948例染色体核型分析

Chromosomal karyotype analysis for 2948 fetuses in mid-or late pregnancy

  • 摘要: 目的了解有产前诊断指征孕妇妊娠中、晚期胎儿染色体异常核型种类,为产前诊断提供参考依据。方法对广东省中山市博爱医院2005年8月-2009年10月筛查出有产前诊断指征的2 948例孕妇,于妊娠16~36周抽取羊水或胎儿脐血进行染色体核型分析。结果2 948例中检出胎儿染色体核型异常272例,核型异常检出率为9.3%;其中染色体多态性215例,占79.04%;三体型48例,占17.65%;染色体缺失4例,占1.47%;平衡易位3例,占1.10%;单体型2例,占0.74%;各产前诊断指征中,高龄孕妇胎儿染色体核型异常检出率为3.77%;唐氏筛查阳性孕妇核型异常检出率为6.22%;有不良生育史孕妇核型异常检出率为8.71%;孕早期有明显致畸因素接触史孕妇核型异常检出率为4.50%;夫妇一方为染色体平衡异位携带者核型异常检出率为50%;曾生育过染色体病患儿孕妇核型异常检出率为5.33%;其他产前诊断指征核型异常检出率为15.85%。结论染色体多态性是有产前诊断指征孕妇妊娠中、晚期胎儿最常见的染色体异常;产前进行染色体核型分析诊断有助于减少染色体异常儿的出生。

     

    Abstract: ObjectiveTo evaluate prenatal diagnosis value of chromosomal karyo types for fetus of mid-orlate pregnary.MethodsChromosomal karyo types of cells in amniotic fluid or cord blood were analyzed among 2 948 fetuses in 16.36 weeks of pregnancy with signs for prenatal diagnosis.ResultsTotally 272 cases of abnormal chromosomal karyo-types were identified among the pregnancies with a positive rates of 9.3%.The rate of abnormal autosomal and sex chromo some were 98.8% and 1.2%,respectively.Polymorph ismand number abnormality were the most common among the auto-somal and sex chromosome.ConclusionThe most frequent abnormal chromo somal are chromo somal polymorphismand number abnormality for fetuses with signs for pregnatal diagnosis.Prenatal diagnosis with chromo somal karyo types analysis is helpful in reducing new born with abnormal chromo somal karyo types.

     

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