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胎儿染色体非整倍体无创产前检查应用探讨 被引量:4

Application for prenatal testing of fetal chromesome aneuploidies.
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摘要 目的探讨无创产前检测技术在胎儿染色体非整倍体检测中的应用价值。方法自2013年6月至2015年10月在泰安市妇幼保健院接受外周血中胎儿游离DNA检测的孕妇562例,均为单胎,孕周为14-26+5w,根据类型分为高龄组,高风险组,临界风险组和其他组。检测结果阳性者通过羊膜腔穿刺及羊水细胞培养,并进行染色体核型分析,对结果加以验证。结果对562份标本进行了DNA检测,提示染色体异常13例,其中12例进行了产前诊断,1例未在本院诊断。染色体诊断12例,其中染色体异常7例,正常5例,阳性预测值58.3%(7/12),符合率为99.1%(557/562),假阳性率0.89%(5/562),目前未发现假阴性病例。结论胎儿无创产前检测技术是灵敏度高、对胎儿无创伤的特点,可作为传统的产前诊断技术的有效辅助手段,对于18,21号染色体特异性较高,但对于13号及性染色体的非整倍体检测目前有局限性,假阳性较高,对患者心里负担造成较大影响。 Objective: Application for prenatal testing of fetal chromesome aneuploidies. Methods: Pregnant women in 562 cases with Detection of fetal free DNA in peripheral blood in hospital, from June 2013 to October 2015, are all single birth, and Gestational week is 14-26+5weeks, which are divided into Old age group, High risk group, Critical risk group and other groups, according to the type.In order to verity the result, the amniotic cavity of those pregnant women should be punctured, their amniotic cells should be cultivated and their chromosomal karyotype should be analgzed. Rusults: The DNA of 562 samples were detected, It showed that 13 cases were chromosome abnormality, among which 12 cases received prenatal diagnoses and 1 case didn' t.12 cases received chromosomal diagnosis, among which 7 cases showed chromosome abnormalities and 5 cases were normal. The coincidence rate is 58.3% (7/12) , the coincidence rate is 99.1% (557/562) and the false positive rate is 0.89% (5/562) , and false negative cases haven't been found. Conclusion: Prenatal testing of fetal chromesome aneuploidies has High sensitivity and No trauma, Can be used as an auxiliary method of traditional prenatal diagnosis method. The sensitivity of this technalogy is hith for chromosomes 21 and 18, but it has limitations to test chromosone 13 and sex chromosomes.The false positive rate is high, which has bad effects on the patients' psychology.
作者 杨站 刘建生 YANG Zhan, LIU Jian-sheng. (Taian Maternal and Child Health Care Hostital, Taian 271000, Shandong China)
出处 《中国优生与遗传杂志》 2016年第8期44-45,共2页 Chinese Journal of Birth Health & Heredity
关键词 染色体非整倍体 无创DNA 产前诊断 Chromesome aneuploidies Noninvasive DNA Prenatal diagnosis
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