An adaptive detection method for fetal chromosomal aneuploidy using cell-free DNA from 447 Korean women.

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BMC medical genomics, ISSN: 1755-8794, Vol: 9, Issue: 1, Page: 61

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Kim, Sunshin; Jung, HeeJung; Han, Sung Hee; Lee, SeungJae; Kwon, JeongSub; Kim, Min Gyun; Chu, Hyungsik; Han, Kyudong; Kwak, Hwanjong; Park, Sunghoon; Joo, Hee Jae; An, Minae; Ha, Jungsu; Lee, Kyusang; Kim, Byung Chul; Zheng, Hailing; Zhu, Xinqiang; Chen, Hongliang; Bhak, Jong Show More Hide
Springer Nature
Biochemistry, Genetics and Molecular Biology; Medicine; Non-invasive prenatal testing; Adaptive detection algorithm; Sequencing; Circulating fetal DNA; Trisomy; Genome
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Noninvasive prenatal testing (NIPT) using massively parallel sequencing of cell-free DNA (cfDNA) is increasingly being used to predict fetal chromosomal abnormalities. However, concerns over erroneous predictions which occur while performing NIPT still exist in pregnant women at high risk for fetal aneuploidy. We performed the largest-scale clinical NIPT study in Korea to date to assess the risk of false negatives and false positives using next-generation sequencing.