摘要
目的探讨羊水细胞异常核型发生的频率、类型与不同产前诊断指征之间的关系,评估羊水穿刺术诊断染色体疾病的临床价值。方法选取2009年7月～2018年7月在广东医科大学顺德妇女儿童医院产前诊断中心具有产前诊断指征的孕妇6 503例,进行羊水穿刺,胎儿羊水细胞染色体核型分析。结果①6 503例羊水细胞中,检出染色体异常核型358例,异常率5.51%。染色体数目异常264例,其中21三体128例,18三体51例,13三体20例,性染色体数目异常65例;染色体的结构异常66例;嵌合体28例。各产前诊断指征中,染色体异常检出率分别为3.34%,3.15%,61.95%,17.22%,37.14%,5.60%和0.62%,经χ~2检验发现,高龄组与血清学筛查高风险组,高龄组与不良孕产史组,血清学筛查高风险组与不良孕产史组,差异均无统计学意义(χ~2=0.147～2.279,均P>0.05);其余各组之间两两比较,差异均有统计学意义(χ~2=7.411～997.801,均P<0.01)。②2 456例高龄孕妇中,年龄35～39岁组与年龄≥40岁组胎儿染色体异常检出率分别为2.70%和5.63%,两者比较,差异有统计学意义(χ~2=11.059,P<0.01)。③无创产前基因筛查(NIPT)对21三体、18三体和13三体的检测准确度分别为80.28%,75.86%和44.00%,对性染色体异常的检测准确度为55.17%,对其他染色体异常的检测准确度为22.73%。结论①对具有明确产前诊断指征的孕妇行羊膜腔穿刺术,进行羊水细胞染色体核型分析非常重要,可有效地检出染色体异常胎儿,避免其出生,提高人口素质。②高龄孕妇,尤其是≥40岁的高龄孕妇,进行产前诊断非常必要。③NIPT对筛查胎儿染色体疾病准确率较高,但只是筛查手段,不能完全代替羊水细胞核型分析。
Objective To explore the relationship between the frequency and type of abnormal karyotypes in amniotic fluidcells and different prenatal diagnostic indications,and evaluate the clinical value of amniocentesis in the diagnosis of chromosomal diseases.Methods From July 2009to July 2018,6 503pregnant women with prenatal diagnosis indications in the Prenatal Diagnosis Center of Shunde Women and Children Hospital of Guangdong Medical University were selected for amniocentesis and karyotype analysis of fetal amniotic fluid cells.Results①In 6 503cases of amniotic fluid cells,358cases ofchromosomalabnormalities were detected,and the abnormal rate was 5.51%.There were 264cases of abnormal chromosomenumber,of which were 128cases of 21trisomy,51cases of 18trisomy,20cases of trisomy 13and 64 65cases of abnormal chromosome number,66cases of abnormal chromosome structure and 28caces of chimera.In the prenatal diagnosis indications,the detection rates of chromosomal abnormalities were 3.34%,3.15%,61.95%,17.22%,37.14%,5.60%and 0.62%,respectively.Theχ^2 test found that there was no significant difference between the elderly group and the serological screeninghigh risk group,the elderly group and the poor maternal history group,the serological screening high risk group and the poormaternal history group(χ^2=0.147~2.279,all P>0.05).The other groups were compared between the two groups andthe difference was statistically significant(χ^2=7.411~997.801,all P<0.01).②Among the 2 456pregnant women,the detection rates of fetal chromosomal abnormalities in the age group of 35~39yearsuc2 women,especially those aged 40or older,are necessary for prenatal diagnosis.③NIPT has a high accuracy rate for screening fetal chromosomal diseases,but it is only a screening method and cannot completely replace the amniotic fluid karyotype analysis.
作者
罗小芳
黄柳萍
吴海燕
张秀群
LUO Xiao-fang;HUANG Liu-ping;WU Hai-yan;ZHANG Xiu-qun(Prenatal Diagnosis Center of Shunde Women and Children Hospital of Guangdong Medical University,Guangdong Foshan 528300,China)
出处
《现代检验医学杂志》
CAS
2019年第2期44-47,51,共5页
Journal of Modern Laboratory Medicine
