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Kim, S., Jung, H., Han, S.H., Lee, S., Kwon, J., Kim, M.G., Chu, H., Han, K., Kwak, H., Park, S., Joo, H.J., An, M., Ha, J., Lee, K., Kim, B.C., Zheng, H., Zhu, X., Chen, H. and Bhak, J. (2016) An Adaptive Detection Method for Fetal Chromosomal Aneuploidy Using Cell-Free DNA from 447 Korean Women. BMC Medical Genomics, 9, 61.
https://doi.org/10.1186/s12920-016-0222-5

has been cited by the following article:

• TITLE: Multiple z-Score Based Method for Noninvasive Prenatal Test Using Cell-Free DNA in Maternal Plasma

  AUTHORS: Hyuk Jung Kwon, Amit Goyal, Heesu Im, Kichan Lee, Seon Young Yun, Yoon Hee Kim, Sungjong Lee, Mi-Gyeong Lee, Hyuna Lee, Reena Garg, Boram Park, Soyoung Choi, Joungsu Joo, Jin-Sik Bae, Min-Jeong Kim, Min Seob Lee, Sunghoon Lee

  KEYWORDS: Cell-Free DNA, z-Score, Multiple Thresholds, Coefficient of Variance, Noninvasive Prenatal Testing, NIPT

  JOURNAL NAME: Open Journal of Genetics, Vol.7 No.1, February 7, 2017

  ABSTRACT: Objective: To improve the detecting accuracy of chromosomal aneuploidy of fetus by non-invasive prenatal testing (NIPT) using next generation sequencing data of pregnant women’s cell-free DNA. Methods: We proposed the multi-Z method which uses 21 z-scores for each autosomal chromosome to detect aneuploidy of the chromosome, while the conventional NIPT method uses only one z-score. To do this, mapped read numbers of a certain chromosome were normalized by those of the other 21 chromosomes. Average and standard deviation (SD), which are used for calculating z-score of each sample, were obtained with normalized values between all autosomal chromosomes of control samples. In this way, multiple z-scores can be calculated for 21 autosomal chromosomes except oneself. Results: Multi-Z method showed 100% sensitivity and specificity for 187 samples sequenced to 3 M reads while the conventional NIPT method showed 95.1% specificity. Similarly, for 216 samples sequenced to 1 M reads, Multi-Z method showed 100% sensitivity and 95.6% specificity and the conventional NIPT method showed a result of 75.1% specificity. Conclusion: Multi-Z method showed higher accuracy and robust results than the conventional method even at low coverage reads.