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Clinical Chemistry 53: 2223-2224, 2007; 10.1373/clinchem.2007.093146
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(Clinical Chemistry. 2007;53:2223-2224.)
© 2007 American Association for Clinical Chemistry, Inc.

Letters to the Editor

44 Single-Nucleotide Polymorphisms Expressed by Placental RNA: Assessment for Use in Noninvasive Prenatal Diagnosis of Trisomy 21

Attie T.J.I. Go1, Allerdien Visser2, Monique A.M. Mulders2, Marinus A. Blankenstein2, John M.G. van Vugt1 and Cees B.M. Oudejans2,a

1 Departments of Obstetrics/Gynecology, and 2 Clinical Chemistry, VU University, Medical Center, Amsterdam, The Netherlands

aAddress correspondence to this author at: Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. Fax 31-20-444 3895; e-mail cbm.oudejans@vumc.nl.

The first 20% of the full text of this article appears below.


To the Editor:

For noninvasive prenatal diagnosis, markers that directly reflect changes in chromosome dosage are preferred over indirect markers that are associated with epiphenomena(1)(2). The RNA:single-nucleotide polymorphism (SNP) allelic ratio strategy was described recently as a means to directly assess fetal chromosome dosage in maternal plasma(2). Quantitive comparison of the allelic expression ratios of a placentally expressed, chromosome 21–encoded gene, placenta-specific 4 (PLAC4), enabled detection in maternal plasma of the differences between 2 (normal) or 3 copies of chromosome 21(2). The RNA:SNP ratio strategy is currently limited to a subset of the population with heterozygosity of the SNP used. Theoretically, an increase in population coverage can be obtained by inclusion of additional SNPs within PLAC4 or other chromosome 21–encoded transcripts with placental expression and detectability in maternal plasma(2). We therefore tested 44 SNPs expressed by 7 chromosome 21–encoded, placentally expressed genes(2), PLAC4, collagen, type VI, alpha 2 (COL6A2), collagen, type VI, alpha 1 (COL6A1), BTG family, member 3 (BTG3), ADAM metallopeptidase with thrombospondin type 1 motif, 1 (. . . [Full Text of this Article]




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 Clin. Chem.Home page
A. T.J.I. Go, A. Visser, O. T. Betsalel, J. M.G. van Vugt, M. A. Blankenstein, and C. B.M. Oudejans
Measurement of Allelic-Expression Ratios in Trisomy 21 Placentas by Quencher Extension of Heterozygous Samples Identified by Partially Denaturing HPLC
Clin. Chem., February 1, 2008; 54(2): 437 - 440.
[Abstract] [Full Text] [PDF]


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