拷贝数变化
胎儿游离DNA
计算生物学
DNA测序
遗传学
生物
基因
基因组DNA
产前诊断
胎儿
基因组
怀孕
作者
Lucie Faldynová,Sylwia Walczysková,David Cerna,Monika Kudrejová,Šárka Hilscherová,Romana Kaniová,Simona Širůčková
摘要
Abstract Objective Recent studies have integrated copy number variant (CNV) and gene analysis using target enrichment. Here, we transferred this concept to our routine genetics laboratory, which is not linked to centralized non‐invasive prenatal testing (NIPT) facilities. Method From a cohort of 100 pregnant women, 22 were selected for the analysis of maternal genomic DNA (gDNA) along with fetal cell‐free DNA. Using targeted enrichment, 135 genes were analyzed, combined with aberrations of chromosomes 21, 18, 13, X, and Y. The data were subjected to specificity and sensitivity analyses, and correlated with the results from invasive testing methods. Results The sensitivity/specificity was determined for the CNV analysis of chromosomes: 21 (80%/75%), 18 (‐/82%), 13 (100%/67%), and Y (100%/100%). The gene detection was valid for maternal gDNA. However, for cell‐free fetal DNA, it was not possible to determine the boundary between an artifact and a real sequence variant. Conclusion The target enrichment method combining CNV and gene detection seems feasible in a regular laboratory. However, this method can only be responsibly optimized with a sufficient number of controls and further validation on a strong bioinformatic background. The present results showed that NIPT should be performed in specialized centers, and that its introduction to isolated laboratories may not provide valid data.
科研通智能强力驱动
Strongly Powered by AbleSci AI