An advanced model to precisely estimate the cell-free fetal dna concentration in maternal plasma
文献类型：期刊论文
| 作者 | Kang, Xiongbin1; Xia, Jun1,2; Wang, Yicong2; Xu, Huixin2; Jiang, Haojun2; Xie, Weiwei2; Chen, Fang2,3; Zeng, Peng2; Li, Xuchao2; Xie, Yifan1,2 |
| 刊名 | Plos one
 |
| 出版日期 | 2016-09-23 |
| 卷号 | 11期号:9页码:14 |
| ISSN号 | 1932-6203 |
| DOI | 10.1371/journal.pone.0161928 |
| 通讯作者 | Jiang, hui(jianghui@genomics.cn) ; Zhang, xiuqing(zhangxq@genomics.cn) |
| 英文摘要 | Background with the speedy development of sequencing technologies, noninvasive prenatal testing (nipt) has been widely applied in clinical practice for testing for fetal aneuploidy. the cell-free fetal dna (cffdna) concentration in maternal plasma is the most critical parameter for this technology because it affects the accuracy of nipt-based sequencing for fetal trisomies 21, 18 and 13. several approaches have been developed to calculate the cffdna fraction of the total cell-free dna in the maternal plasma. however, most approaches depend on specific single nucleotide polymorphism (snp) allele information or are restricted to male fetuses. methods in this study, we present an innovative method to accurately deduce the concentration of the cffdna fraction using only maternal plasma dna. snps were classified into four maternal-fetal genotype combinations and three boundaries were added to capture effective snp loci in which the mother was homozygous and the fetus was heterozygous. the median value of the concentration of the fetal dna fraction was estimated using the effective snps. a depth-bias correction was performed using simulated data and corresponding regression equations for adjustments when the depth of the sequencing data was below 100-fold or the cffdna fraction is less than 10%. results using our approach, the median of the relative bias was 0.4% in 18 maternal plasma samples with a median sequencing depth of 125-fold. there was a significant association (r = 0.935) between our estimations and the estimations inferred from the y chromosome. furthermore, this approach could precisely estimate a cffdna fraction as low as 3%, using only maternal plasma dna at the targeted region with a sequencing depth of 65-fold. we also used pcr instead of parallel sequencing to calculate the cffdna fraction. there was a significant association (r = 98.2%) between our estimations and those inferred from the y chromosome. |
| WOS关键词 | NONINVASIVE PRENATAL-DIAGNOSIS ; CHROMOSOMAL ANEUPLOIDY ; SEQUENCING DATA ; PREGNANT-WOMEN ; DOWN-SYNDROME ; DIGITAL PCR ; GENOME ; SERUM |
| WOS研究方向 | Science & Technology - Other Topics |
| WOS类目 | Multidisciplinary Sciences |
| 语种 | 英语 |
| 出版者 | PUBLIC LIBRARY SCIENCE |
| WOS记录号 | WOS:000383893500003 |
| URI标识 | http://www.irgrid.ac.cn/handle/1471x/2375818 |
| 专题 | 中国科学院大学 |
| 通讯作者 | Jiang, Hui; Zhang, Xiuqing |
| 作者单位 | 1.Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R China 2.BGI Shenzhen, Shenzhen 518083, Peoples R China 3.BGI Shenzhen, Shenzhen Birth Defects Screening Project Lab, Shenzhen, Peoples R China |
| 推荐引用方式 GB/T 7714 | Kang, Xiongbin,Xia, Jun,Wang, Yicong,et al. An advanced model to precisely estimate the cell-free fetal dna concentration in maternal plasma[J]. Plos one,2016,11(9):14. |
| APA | Kang, Xiongbin.,Xia, Jun.,Wang, Yicong.,Xu, Huixin.,Jiang, Haojun.,...&Zhang, Xiuqing.(2016).An advanced model to precisely estimate the cell-free fetal dna concentration in maternal plasma.Plos one,11(9),14. |
| MLA | Kang, Xiongbin,et al."An advanced model to precisely estimate the cell-free fetal dna concentration in maternal plasma".Plos one 11.9(2016):14. |
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来源：中国科学院大学
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