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Non-invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders Using Circulating Cell-free Fetal DNA

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.

Obstetrical & Gynecological Survey: June 2019 - Volume 74 - Issue 6 - p 330–332
doi: 10.1097/01.ogx.0000559886.06419.26

(Abstracted from Nat Med 2019;25:439–447)

Noninvasive prenatal screening has focused on the detection of chromosomal abnormalities in the fetus. At present, screening for many dominant monogenic disorders associated with de novo mutations is not available, despite their relatively high incidence.

Department of Molecular and Human Genetics, Baylor College of Medicine (J.Z., H.D., X.G., C.A.S., H.M., A. Breman, F.X., Y.Y., Z.C., X.W., Y.W., S.K., I.B.V.d.V., A. Beaudet, L.-J.W., C.M.E.); Baylor Genetics (J.L., Y.F., Y.J., J.S., E.S.S., S. Peacock, S.C., G.W., A. Purgason, A. Pourpak), Houston, TX; Natera, Inc, San Carlos, CA (J.B.S., S. Parmar); Office of Clinical Research, Baylor College of Medicine (A.K.M.); Department of Statistics, Rice University (C.A.S.), Houston, TX; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong (K.W.C.); The Chinese University of Hong Kong–Baylor College of Medicine Joint Center for Medical Genetics (K.W.C.), Hong Kong, China; Department of Obstetrics and Gynecology, Columbia University, New York, NY (R.J.W.); and Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX (I.B.V.d.V.)

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