title: Noninvasive fetal trisomy detection by multiplexed semiconductor sequencing: a barcoding analysis strategy.
abstract: Noninvasive prenatal detection of fetal chromosomal aneuploidies by high-throughput next-generation sequencing proves to be accurate and sensitive. Currently, most of the data analysis methods involve a Z-score test based on the reference distribution of at least dozens of normal samples. This is not only costly but also time consuming. Moreover, as the experimental condition varies between every single run, noises cannot be eliminated and will skew the results. In order to overcome these drawbacks, we have proposed a new analytical strategy based on the multiplex barcoding sequencing of both normal and unknown samples in a single run on Ion Torrent PGM. In this method, only one normal sample is required. By applying this method to 13 single runs with a total number of 44 samples, we achieved the sensitivity and specificity of 100 and 95.181% for T13 detection, 100 and 100% for T18 detection, 90 and 100% for T21 detection, respectively.
authors.affiliation: Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China.|Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai, China.|School of Bio-medical Engineering, Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Jiawei
authors.initials: J
authors.lastname: Shen
authors.affiliation: Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China.|Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Zujia
authors.initials: Z
authors.lastname: Wen
authors.affiliation: Shanghai genomePilot Institutes of Genomics and Human Health, Shanghai, China.
authors.forename: Xiaolan
authors.initials: X
authors.lastname: Qin
authors.affiliation: Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China.|Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai, China.|Shanghai Changning Mental Health Center, Shanghai, China.
authors.forename: Yongyong
authors.initials: Y
authors.lastname: Shi
mesh_terms: D058893:DNA Barcoding, Taxonomic; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012666:Semiconductors; D014314:Trisomy / Q000175:diagnosis*