3226例胎儿染色体核型分析

Chromosome karyotype analysis in 3226 cases with prenatal diagnosis indication

  • 摘要: 目的 探讨不同产前诊断指征与胎儿异常染色体核型的关系。方法 收集本中心2014-2018年具有产前诊断指征的3 226例孕妇羊水或脐血染色体核型分析结果。对不同产前诊断指征孕妇的染色体异常检出率进行统计分析。结果 3 226例孕妇染色体核型分析中,共检出289例胎儿染色体异常,检出率为8.96%;单项指征组、双项指征组、三项指征组异常核型检出率分别为6.81%、38.57%、75.00%;单项指征中无创产前DNA检测(noninvasive prenatal DNA testing,NIPT)阳性异常核型检出率最高(56.38%),其次为父母一方染色体异常(52.78%)。结论 NIPT阳性、父母一方染色体异常这两项指征的异常染色体核型检出率最高;孕妇具有产前诊断指征越多,胎儿染色体异常的风险越大。

     

    Abstract: Objective To investigate the relationship between different prenatal diagnostic indications and fetal abnormal karyotypes. Methods The amniotic fluids or cord bloods were collected in 3 226 pregnant women with prenatal diagnosis indications in our center from 2014 to 2018.The chromosomal karyotypes and the abnormal chromosomal karyotype detection rate were analyzed. Results A total of 289 fetal chromosomal abnormalities(excluding chromosomal polymorphisms)were detected in 3 226 karyotypes,with detection rate of 8.96%.The abnormal karyotype detection rates in single indication group,two indications group and three indications group were 6.81%,38.57%,and 75.00% respectively,with statistically significant differences between these groups(P<0.05,respectively).The abnormal karyotype detection rate in NIPT-positive subgroup(56.38%)was the highest in the single indication group,followed by the parental chromosomal abnormality subgroup(52.78%). Conclusion The abnormal chromosomal karyotype detection rate of NIPT-positive group and parental chromosomal abnormalities group ranks highest in all the indications.Pregnant women with more prenatal diagnosis indications have higher risk of fetal chromosomal abnormalities.

     

/

返回文章
返回