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Int. J. Mol. Sci. 2017, 18(2), 453; doi:10.3390/ijms18020453

Bioinformatics Approaches for Fetal DNA Fraction Estimation in Noninvasive Prenatal Testing

Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China
Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
Author to whom correspondence should be addressed.
Academic Editor: William Chi-shing Cho
Received: 18 January 2017 / Revised: 9 February 2017 / Accepted: 11 February 2017 / Published: 20 February 2017
(This article belongs to the Collection Precision Medicine—From Bench to Bedside)
View Full-Text   |   Download PDF [475 KB, uploaded 20 February 2017]   |  


The discovery of cell-free fetal DNA molecules in plasma of pregnant women has created a paradigm shift in noninvasive prenatal testing (NIPT). Circulating cell-free DNA in maternal plasma has been increasingly recognized as an important proxy to detect fetal abnormalities in a noninvasive manner. A variety of approaches for NIPT using next-generation sequencing have been developed, which have been rapidly transforming clinical practices nowadays. In such approaches, the fetal DNA fraction is a pivotal parameter governing the overall performance and guaranteeing the proper clinical interpretation of testing results. In this review, we describe the current bioinformatics approaches developed for estimating the fetal DNA fraction and discuss their pros and cons. View Full-Text
Keywords: noninvasive prenatal testing; circulating cell-free DNA; fetal DNA fraction noninvasive prenatal testing; circulating cell-free DNA; fetal DNA fraction

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Peng, X.L.; Jiang, P. Bioinformatics Approaches for Fetal DNA Fraction Estimation in Noninvasive Prenatal Testing. Int. J. Mol. Sci. 2017, 18, 453.

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