Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis Y. M. Dennis Lo, Mark S.C. Tein, Tze.

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© Copyright 2009 by the American Association for Clinical Chemistry Maternal Plasma DNA Analysis Using Massively Parallel Sequencing-By- Ligation for Noninvasive.

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Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis Y. M. Dennis Lo, Mark S.C. Tein, Tze K. Lau, Christopher J. Haines, Tse N. Leung, Priscilla M.K. Poon, James S. Wainscoat, Philip J. Johnson, Allan M.Z. Chang, N. Magnus Hjelm The American Journal of Human Genetics Volume 62, Issue 4, Pages 768-775 (April 1998) DOI: 10.1086/301800 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Real-time quantitative PCR. A, Amplification plots obtained using real-time quantitative PCR for the SRY gene. Each plot corresponds to a particular input target quantity, marked by a corresponding symbol. The X-axis denotes the cycle number of a quantitative PCR reaction. The Y-axis denotes the ΔRn, which is the fluorescence intensity over the background (Heid et al. 1996). B, Plot of the threshold cycle (CT) against the input target quantity (common log scale). The correlation coefficient is 0.986. The American Journal of Human Genetics 1998 62, 768-775DOI: (10.1086/301800) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Sequential study of 12 women, bearing male fetuses, who conceived by IVF. Each case is denoted by a unique recruitment case number. The X-axis denotes the gestational ages at which serum samples were obtained. A gestational age of zero denotes the preconception sample. The Y-axis denotes the concentration of fetal SRY in maternal serum, expressed in copies per milliliter. The scale has been optimized for the concentration range for each case. The American Journal of Human Genetics 1998 62, 768-775DOI: (10.1086/301800) Copyright © 1998 The American Society of Human Genetics Terms and Conditions