Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA | Zendy

Lyn S. Chitty | Zendy; Y. M. Dennis Lo | Zendy

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Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA

Author(s) -

Lyn S. Chitty,

Y. M. Dennis Lo

Publication year - 2015

Publication title -

cold spring harbor perspectives in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.853

H-Index - 105

eISSN - 2472-5412

pISSN - 2157-1422

DOI - 10.1101/cshperspect.a023085

Subject(s) - china , family medicine , chinese academy of sciences , library science , medicine , queen (butterfly) , forensic genetics , genetics , political science , biology , law , microsatellite , gene , computer science , hymenoptera , allele , botany

The identification of cell-free fetal DNA (cffDNA) in maternal plasma in 1997 heralded the most significant change in obstetric care for decades, with the advent of safer screening and diagnosis based on analysis of maternal blood. Here, we describe how the technological advances offered by next-generation sequencing have allowed for the development of a highly sensitive screening test for aneuploidies as well as definitive prenatal molecular diagnosis for some monogenic disorders.

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