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Zhang, Jinglan; Li, Jianli; Saucier, Jennifer B; Feng, Yanming; Jiang, Yanjun; Sinson, Jefferson; McCombs, Anne K; Schmitt, Eric S; Peacock, Sandra; Chen, Stella; Dai, Hongzheng; Ge, Xiaoyan; Wang, Guoli; Shaw, Chad A; Mei, Hui; Breman, Amy; Xia, Fan; Yang, Yaping; Purgason, Anne; Pourpak, Alan; Chen, Zhao; Wang, Xia; Wang, Yue; Kulkarni, Shashikant; Choy, Kwong Wai; Wapner, Ronald J; Van den Veyver, Ignatia B; Beaudet, Arthur; Parmar, Sheetal; Wong, Lee-Jun; Eng, Christine M
Nature medicine, 03/2019, Letnik: 25, Številka: 3Journal Article
Current non-invasive prenatal screening is targeted toward the detection of chromosomal abnormalities in the fetus . However, screening for many dominant monogenic disorders associated with de novo mutations is not available, despite their relatively high incidence . Here we report on the development and validation of, and early clinical experience with, a new approach for non-invasive prenatal sequencing for a panel of causative genes for frequent dominant monogenic diseases. Cell-free DNA (cfDNA) extracted from maternal plasma was barcoded, enriched, and then analyzed by next-generation sequencing (NGS) for targeted regions. Low-level fetal variants were identified by a statistical analysis adjusted for NGS read count and fetal fraction. Pathogenic or likely pathogenic variants were confirmed by a secondary amplicon-based test on cfDNA. Clinical tests were performed on 422 pregnancies with or without abnormal ultrasound findings or family history. Follow-up studies on cases with available outcome results confirmed 20 true-positive, 127 true-negative, zero false-positive, and zero-false negative results. The initial clinical study demonstrated that this non-invasive test can provide valuable molecular information for the detection of a wide spectrum of dominant monogenic diseases, complementing current screening for aneuploidies or carrier screening for recessive disorders.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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in: SICRIS
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