Non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma from PGD pregnancies  Ying Li, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Ephrat Levy-Lahad, Ehud J Margalioth, Xiaoyan Zhong, Sinuhe Hahn, Wolfgang Holzgreve  Reproductive BioMedicine Online  Volume 19, Issue 5, Pages 714-720 (November 2009) DOI: 10.1016/j.rbmo.2009.09.005 Copyright © 2009 Reproductive Healthcare Ltd, Duck End Farm, Dry Drayton, Cambridge CB23 8DB, UK Terms and Conditions

Figure 1 Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry analysis of the 167del in GJB2 gene (sample 1) in the size-fractionated cell-free-DNA from maternal plasma with the homogenous MassEXTEND® assay. The mass spectrum indicated that the fetus has inherited the paternal deletion allele, presented as DEL. The wild-type background allele is presented as A. Reproductive BioMedicine Online 2009 19, 714-720DOI: (10.1016/j.rbmo.2009.09.005) Copyright © 2009 Reproductive Healthcare Ltd, Duck End Farm, Dry Drayton, Cambridge CB23 8DB, UK Terms and Conditions

Figure 2 Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry analysis of sample 3 with single-allele base extension reaction assay. (A) The analysis of the size-fractionated cell-free-DNA in maternal plasma indicated that the fetus did not inherit the paternal Gaucher disease. The mass spectrum shows the mutant allele G is absent from maternal plasma. (B) The analysis of the size-fractionated cell-free-DNA in maternal plasma indicated that the fetus did not inherit the paternal Tay-Sachs mutation. The mass spectrum shows the mutant allele T is absent from maternal plasma. (C) The analysis of the size-fractionated cell-free-DNA in maternal plasma indicated that the fetal paternally inherited SNP allele G was detectable. UEP=unextended primer. Reproductive BioMedicine Online 2009 19, 714-720DOI: (10.1016/j.rbmo.2009.09.005) Copyright © 2009 Reproductive Healthcare Ltd, Duck End Farm, Dry Drayton, Cambridge CB23 8DB, UK Terms and Conditions