摘要
目的将高通量基因测序的产前筛查以及诊断技术应用于高龄孕妇中,研究及分析诊断价值。方法此文2015年2月至2018年5月在本医院接受诊断的6400例高龄孕妇,开展回顾分析,包含3385例直接要求羊水诊断的孕妇及3015例先要求接受无创DNA产前检测间接羊水诊断的孕妇,研究及分析所有孕妇的诊断结果。结果先要求接受无创DNA产前检测间接羊水诊断的高龄孕妇中,染色体异常检出总计率是1.23%,包含21-三体20例、18-三体10例、47,XXY 7例,直接要求羊水诊断的高龄孕妇中,染色体异常检出总计率是1.03%,包含21-三体19例、18-三体9例、47,XXY 7例,先要求接受无创DNA产前检测间接羊水诊断的染色体异常检出总计率略高于直接要求羊水诊断,但无显著数据差异,P>0.05。结论对高龄孕妇采取高通量基因测序的产前筛查以及诊断技术呈现重要诊断价值,能够为拒绝接受羊膜腔穿刺术或是具有羊水诊断相关禁忌证的高龄孕妇提供新的产前诊断方式。
Objective To apply high-throughput gene sequencing prenatal screening and diagnostic techniques to older pregnant women to study and analyze diagnostic value. Methods A retrospective analysis of 6,400 pregnant women who were diagnosed in our hospital from February 2015 to May 2018 included 3385 pregnant women who were directly asked for amniocentesis and 3015 who required noninvasive DNA prenatal testing for indirect amniocentesis, studying and analyzing the diagnosis of all pregnant women. Results In the elderly pregnant women who were asked to receive non-invasive DNA prenatal testing for indirect amniocentesis, the total rate of chromosomal abnormalities was 1.23%, including 20 cases of 21-trisomy, 10 cases of 18-trisomy, and 7 cases of 47,XXY. In the elderly women diagnosed with amniocentesis, the total chromosomal abnormality detection rate was 1.03%, including 19 cases of 21-trisomy, 9 cases of 18-trisomy, and 7 cases of 47,XXY. The total rate of chromosomal abnormalities detected by indirect amniocentesis for non-invasive DNA prenatal testing was slightly higher than that of direct amniocentesis, but there was no significant data difference, P>0.05. Conclusion Prenatal screening and diagnostic techniques for highthroughput gene sequencing in pregnant women with advanced age have important diagnostic value and can provide new prenatal diagnosis methods for elderly women who refuse to undergo amniocentesis or have contraindications for amniocentesis.
作者
田琪
黄凡华
章钧
侯红瑛
TIAN Qi;HUANG Fan-hua;ZHANG Jun;HOU Hong-ying(Obstetrics Department of the Third Affiliated Hospital of Sun Yat-Sen University,Guangzhou,Guangdong 510630;Department of Clinical Laboratory,the Third Affiliated Hospital of Sun Yat-sen University,Guangzhou,Guangdong 510630)
出处
《智慧健康》
2018年第33期13-14,18,共3页
Smart Healthcare
基金
广州市科技计划项目(201508020259)
广州市科技计划项目(201704020114)
关键词
高通量基因测序
产前筛查
高龄
孕妇
High-throughput gene sequencing
Prenatal screening
Advanced age
Pregnant women
