目的通过羊水细胞染色体核型分析验证无创DNA产前检测技术提示高风险的准确性,探讨无创DNA产前检测技术在产前检查中的应用价值,为更好地产前检查提供临床实践依据。方法因胎儿无创DNA产前检测提示高风险的156例孕妇行常规羊膜腔穿刺术,经羊水细胞培养、制片及G带分析,并提示常染色体微重复(缺失)的孕妇进行微阵列比较基因组杂交技术(Array-CGH)检查分析。结果在156例羊水细胞染色体核型中,118例见明显异常,35例未见明显异常,1例为21-三体的低嵌合体,2例为多态性染色体核型;在异常核型中,主要以21-三体综合征为主,占异常核型的73.73%(87/118),其次是18-三体综合征,占18.64%(22/118)。通过羊水细胞染色体核型分析验证,11例提示13-三体综合征高风险中,染色体核型分析有2例为13-三体,检出率18.18%(2/11);26例提示18-三体综合征高风险中,染色体核型分析有23例见明显异常,检出率63.89%(23/26),22例为18-三体,其中1例为21-三体;96例提示21-三体综合征高风险中,染色体核型分析有86例为21-三体,检出率89.58%(86/96);17例提示性染色体异常中,染色体核型分析有6例见明显异常,检出率35.29%(6/17),为特纳综合征和47,XXY;6例提示常染色体微重复(缺失)中,仅1例见明显异常,检出率16.67%(1/6),其它5例未见明显的染色体核型异常,而这6例提示的常染色体微重复(缺失)都经过Array-CGH检测,检测出了提示4号和9号染色体微重复的两例是异常,即染色体微重复。结论通过羊水细胞染色体核型分析了156例无创DNA产前检测技术提示高风险的孕妇,胎儿以21-三体综合征为主,其次是18-三体综合征。在无创DNA产前检测技术提示的高风险中,21-三体综合征高风险的准确性最高,达到89.58%,而13-三体综合征高风险和常染色体微重复(缺失)的准确性都较低。所以,在临床产前检查工作中,无创DNA产前检测技术只能作为高精度的筛查技术应用,暂时还不能作为临床的诊断技术。 Objective To confirm the high risk of noninvasive DNA prenatal detection by amniotic cell chromosome karyotype analysis and to explore the value of prenatal detection of noninvasive DNA in prenatal care and provide clinical practice basis for better prenatal examination. Methods A total of 156 pregnant women with high risk of noninvasive DNA prenatal examination of fetal fetuses underwent routine amniocentesis by amniocentesis. The amniotic fluid cell culture, preparation and G band analysis were performed. The results showed that pregnant women with atopic duplication (deletion) Hybridization technology (Array-CGH) check analysis. Results Among the 156 cases of amniotic fluid cell karyotype, 118 cases showed obvious abnormalities, 35 cases showed no obvious abnormality, 1 case was 21-trisomy low chimera and 2 cases was polymorphic karyotype. In abnormal karyotype , Mainly in 21-trisomy syndrome, accounting for 73.73% (87/118) of abnormal karyotype, followed by 18-trisomy syndrome, accounting for 18.64% (22/118). According to the karyotype analysis of amniotic fluid cell chromosomes, in 11 cases of high risk of 13-trisomy syndrome, 2 cases were 13-trisomy with the detection rate of 18.18% (2/11); 26 cases showed 18 - In the high risk of trisomy, chromosomal karyotype analysis showed obvious abnormality in 23 cases, the detection rate was 63.89% (23/26), 22 cases were 18-trisomy, 1 case was 21-trisomy, and 96 cases Tip 21-trisomy syndrome high risk, chromosomal karyotype analysis of 86 cases of 21-trisomy, the detection rate was 89.58% (86/96); 17 cases of prompted chromosomal abnormalities, chromosome karyotype analysis of 6 cases See obvious abnormalities, the detection rate was 35.29% (6/17), Turner syndrome and 47, XXY; 6 cases suggested autosomal micro-duplication (deletion), only 1 case of obvious abnormalities, the detection rate was 16.67% 1/6). The other 5 cases showed no significant abnormality of chromosome karyotypes, but all of the 6 cases suggested autosomal duplication (deletion) were detected by Array-CGH. Two cases were abnormal, that is, chromosome microreplication. Conclusion According to the karyotype analysis of amniotic fluid cells, 156 cases of non-invasive DNA prenatal detection of high risk pregnant women, the fetus with 21-trisomy syndrome, followed by 18-trisomy syndrome. The high-risk 21-trisomy syndrome has the highest risk of reaching 89.58% at high risk of non-invasive DNA prenatal testing, and the high risk of trisomy 13 and the accuracy of autosomal micro-overlap (deletion) Are lower. Therefore, in clinical prenatal care work, non-invasive DNA prenatal testing technology can only be used as a high-precision screening technology, but not yet as a clinical diagnostic technology.