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Clinical Chemistry 53: 141-142, 2007; 10.1373/clinchem.2007.079335
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(Clinical Chemistry. 2007;53:141-142.)
© 2007 American Association for Clinical Chemistry, Inc.

Letters to the Editor

Mass Spectrometric Detection of an SNP Panel as an Internal Positive Control for Fetal DNA Analysis in Maternal Plasma

Katherine C.K. Chow1, Rossa W.K. Chiu1,2, Nancy B.Y. Tsui1, Chunming Ding2,3, Tze K. Lau4, Tse N. Leung4 and Y.M. Dennis Lo1,2,a

1 Department of Chemical Pathology
2 Li Ka Shing Institute of Health Sciences
3 Centre for Emerging Infectious Diseases
4 Department of Obstetrics, and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China

aAddress correspondence to this author at: Department of Chemical Pathology, The Chinese University of Hong Kong, Room 38063, 1/F Clinical Sciences Building, Prince of Wales Hospital, 30–32 Ngan Shing Str., Shatin, New Territories, Hong Kong Special Administrative Region, China. Fax +852-2194-6171; e-mail loym@cuhk.edu.hk.

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


To the Editor:

Applications of fetal DNA detection in maternal plasma have been reported for the prenatal assessment of fetal RhD status, sex-linked disorders, and ß-thalassemia. Because fetal DNA constitutes only 3% to 6% of the total DNA in maternal plasma (1), fetal sequences may occasionally go undetected because of low fetal DNA concentrations or fetal DNA loss during sample processing. Such false-negative results may lead to misinterpretation of the fetal genotype and consequently, false diagnoses. Thus the incorporation of analytical controls to confirm the presence of fetal DNA is recommended. Other investigators have developed a panel of insertion-deletion polymorphisms to serve this purpose(2). Single nucleotide polymorphisms (SNPs), however, are the most abundant class of polymorphisms in the human genome. We have recently developed a mass spectrometry based protocol, the single allele base extension reaction (SABER), that allows the sensitive and specific detection of fetal SNPs in maternal plasma(3). We applied SABER to develop . . . [Full Text of this Article]




The following articles in journals at HighWire Press have cited this article:


Home page
 Clin. Chem.Home page
Y. K. Tong, R. W.K. Chiu, T. Y. Leung, C. Ding, T. K. Lau, T. N. Leung, and Y.M. D. Lo
Detection of Restriction Enzyme Digested Target DNA by PCR Amplification Using a Stem-Loop Primer: Application to the Detection of Hypomethylated Fetal DNA in Maternal Plasma
Clin. Chem., November 1, 2007; 53(11): 1906 - 1914.
[Abstract] [Full Text] [PDF]


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