Combined Count- and Size-Based Analysis of Maternal Plasma DNA for Noninvasive Prenatal Detection of Fetal Subchromosomal Aberrations Facilitates Elucidation of the Fetal and/or Maternal Origin of the Aberrations | Zendy

Stephanie C Y Yu | Zendy; Peiyong Jiang | Zendy; K.C. Allen Chan | Zendy; Brigitte H. W. Faas | Zendy; Kwong Wai Choy | Zendy; Wing Cheong Leung | Zendy; Tak Yeung Leung | Zendy; Y. M. Dennis Lo | Zendy; Rossa W. K. Chiu | Zendy

Open Access

Combined Count- and Size-Based Analysis of Maternal Plasma DNA for Noninvasive Prenatal Detection of Fetal Subchromosomal Aberrations Facilitates Elucidation of the Fetal and/or Maternal Origin of the Aberrations

Author(s) -

Stephanie C Y Yu,

Peiyong Jiang,

K.C. Allen Chan,

Brigitte H. W. Faas,

Kwong Wai Choy,

Wing Cheong Leung,

Tak Yeung Leung,

Y. M. Dennis Lo,

Rossa W. K. Chiu

Publication year - 2016

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2016.254813

Subject(s) - fetus , false positive paradox , prenatal diagnosis , obstetrics , pregnancy , medicine , computer science , biology , genetics , artificial intelligence

Noninvasive prenatal detection of fetal subchromosomal copy number aberrations (CNAs) can be achieved through massively parallel sequencing of maternal plasma DNA. However, when a mother herself is a carrier of a CNA, one cannot discern if her fetus has inherited the CNA. In addition, false-positive results would become more prevalent when more subchromosomal regions are analyzed.

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