首页> 中文期刊>中华医学遗传学杂志 >919例胎儿颈后皮肤皱褶增厚与染色体异常的相关性

919例胎儿颈后皮肤皱褶增厚与染色体异常的相关性

摘要

目的 探讨胎儿颈后皮肤皱褶(nuchal fold,NF)增厚与胎儿染色体异常的相关性.方法 对超声检查提示NF增厚的919例孕妇进行介入性产前诊断,分析其染色体异常的检出率.结果 随NF值的升高,染色体异常检出率显著升高,差异有统计学意义(P<0.05).高龄组孕妇羊水染色体异常的检出率显著升高,差异有统计学意义(P<0.05).此外,合并其他B超异常者,随异常数目的增多,染色体异常检出率也显著升高,差异有统计学意义(P<0.05).在所有异常核型中,21-三体的检出率最高.在已知分娩及引产婴儿中,男女比例为1.6:1.结论 胎儿NT或NF增厚男婴发生率较女婴高,且随其数值的升高,胎儿出现染色体异常的风险显著升高,高龄或合并其他B超异常,增加染色体异常的风险,尤其对21-三体的产前筛查较为灵敏.%Objective To explore the correlation between fetal nuchal fold (NF)thickening and fetal chromosomal abnormality.Methods In total 919 pregnant women undergoing ultrasound examination were selected for interventional prenatal diagnosis in order to detect fetal chromosomal abnormality.Results The detection rate of chromosomal abnormality has significantly increased with NF thickness,advanced maternal age,presence of other ultrasound abnormalities (P < 0.05 ). Trisomy 21 was the most common abnormality,and there was a prepondance for male fetuses.Conclusion Increased NF thickness is strongly associated with the risk of fetal chromosomal abnormalities, advanced maternal age and presence of additional ultrasound abnormalities.

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