目的 探讨无创胎儿染色体非整倍体基因检测在产前诊断中的临床应用及价值。方法 2014年1月至2016年6月淮安市第一人民医院建卡产检的11 000例孕妇中选取血清学产前筛查高风险、血清学筛查临界风险及高龄孕妇1246例，进行无创胎儿染色体非整倍体基因检测，对于无创阳性孕妇抽取羊水细胞进行染色体核型分析，作为研究组；2008年1月至2011年1月淮安市第一人民医院建卡产检的15 000例孕妇中选取1650例血清学筛查高风险、血清学筛查临界风险及高龄孕妇进行羊水穿刺核型分析作为对照组。结果 研究组1246例孕妇中无创DNA检测与羊水染色体核型分析结果相比，21-三体检出率为100%，无创DNA假阳性率为0%。18-三体检出率为100%，假阳性率为0。研究人群染色体患儿检出率90%、产前诊断参加率98.7%；对照组1650例孕妇中，21-三体检出率为78%。18-三体检出率为100%，研究人群染色体患儿检出率78%、产前诊断参加率53.3%。结论 胎儿染色体非整倍体无创基因检测在产前诊断中因其具有敏感度及特异度高及无创等优点，运用于临床可明显降低先天性缺陷儿出生率。
Objective In order to investigate the clinical application and the value of fetal chromosomal aneuploidy noninvasive genetic testing in prenatal diagnosis. Method 1246 pregnant women were selected to fetal chromosomal aneuploidy noninvasive genetic testing，they were high-risk or critical-risk in serological screening in January 2014 to June 2016 who checked the cards in our hospital. Karyotype analysis was carried out on positive pregnant women by amniocentesis. It is the study group. 1650 pregnant women were selected to fetal chromosomal aneuploidy noninvasive genetic testing，they were high-risk or critical-risk in serological screening in January 2008 to January 2011 who checked the cards in our hospital. Karyotype analysis was carried out on positive pregnant women by amniocentesis. It is the control group. Results eight cases were detected in 1246 pregnant women, including 6 cases of trisomy 21, 2 cases of trisomy 18. Compared with amniotic fluid karyotype analysis, the examination of trisomy 21 was 100%, false positive rate was 0%, and the examination of trisomy 18 was 100%, false positive rate was5 0%. 90% chromosomal abnormalities were detected in study population and prenatal diagnosis participation rate was 98.7%, the detection rate of trisomy 21 was 78%, the examination of trisomy 18 was 100% in control group. 78% chromosomal abnormalities was detected in study population and prenatal diagnosis participation rate was53.3%. Conciusions Fetal chromosomal aneuploidy noninvasive genetic testing has a high sensitivity and specificity in prenatal diagnosis; it can be used as the supplementary means of serology, to reduce the birth rate of congenital defects.
