检验医学与临床2017，Vol.14Issue(24)：3579-3582,4.DOI:10.3969/j.issn.1672-9455.2017.24.005
产前无创基因检测在诊断胎儿染色体非整倍体疾病中的临床价值
Clinical significance of NIPT detection in the diagnosis of fetal chromosomal aneuploidy disease
摘要
Abstract
Objective To investigate the clinical significance of NIPT detection in the diagnosis of fetal chromosomal aneuploidy disease .Methods From September 2013 to August 2017 ,3685 pregnant women were examined by NIPT in the obstetric clinic of our hospital ,using high-throughput genomic sequencing platforms and bioinformatic analysis techniques ,deep sequencing of free DNA in maternal venous blood was performed ,and the information of fetal chromosome were obtained .Amniocentesis and fetal kar-yotype analysis were performed in pregnant women with high-risk NIPT test results ,and telephone follow-up was performed on pregnant women with negative NIPT test results .Results 3685 pregnant women were tested with NIPT ,and 42 pregnant women were at high risk .The test report showed a high risk of 21-Trisomy syndrome in 31 patients ,and of 18-trisomy in 6 cases ,and sex chromosome abnormality was found in 5 cases .The positive rate was 1 .14％ (42/3685) .The 3685 pregnant women were included in the study and were grouped according to age .The positive rate of the high risk of chromosomal aneuploidy in patients over 40 years old was 4 .17％ .There were 42 cases of high-risk women with chromosomal aneuploidy ,and 5 cases of high-risk NIPT result did not undergo amniocentesis-karyotype analysis ,using termination of pregnancy by induced labor .The karyotypes of 37 cases of high-risk pregnant women were analyzed by amniocentesis ,and among them ,there were 27 cases of 21-Trisomy syndrome ,5 cases of 18-Trisomy syndrome ,and 5 cases of sex chromosome abnormality .The high risk results of NIPT detection were compared with the karyotype analysis of the membrane puncture fluid cell chromosome as the gold standard .The abnormally high risk results of Chromosomal aneuploidy in 21-Triple syndrome cell and the results of amniocentesis and karyotype analysis were analyzed :the coin-cidence rate was 96 .30％ (26/27) ,there is a false positive result ,the false positive rate was 3 .70％ (1/27) .The abnormally high risk results of chromosomal aneuploidy in 18-Trisomy syndrome cell and the results of amniocentesis and karyotype analysis were ana-lyzed :the coincidence rate was 100 .00％ (5/5) .The abnormally high risk results of chromosomal aneuploidy in sex chromosome and the results of amniocentesis and karyotype analysis were analyzed :the coincidence rate was 80 .00％ (4/5) ,there is a false positive result ,and the false positive rate was 20 .00％ (1/5) .The sensitivity of NIPT in the diagnosis of fetal chromosomal aneuploidy was 100 .00％ (3643/3643) ,and the overall specificity was 94 .59％ (35/37) .The total false positive rate was 0 .05％ (2/3680) ,and the false negative rate was 0 .00％ (0/0) .Conclusion The high-throughput genomic sequencing platforms and bioinformatics analy-sis technique have relatively high sensitivity and specificity ;the positive rate of fetal chromosomal aneuploidy detected by NIPT in Chongqing area was 1 .13％ ,and mainly 21-Trisomy syndrome was detected ,accounting for 73 .81％ ;the positive rate of NIPT in 40 year old pregnant women is higher than that of other age groups ,up to 4 .17％ ;NIPT diagnosis has a high clinical value in the diag-nosis of fetal chromosomal aneuploidy disease ,and it is important to prevent birth defects .关键词
染色体非整倍体/产前无创基因检测/大规模平行测序技术/基因检测/胎儿Key words
chromosome aneuploidy/NIPT/M PS/gene testing/fetus引用本文复制引用
谢建渝,黎义,谢家宁,刘琴,熊建林,徐公辉,兰静,邹光美,林为..产前无创基因检测在诊断胎儿染色体非整倍体疾病中的临床价值[J].检验医学与临床,2017,14(24):3579-3582,4.基金项目
重庆市九龙坡区科委社会发展类基金资助项目(201617). （201617）
