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Non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma from PGD pregnancies

Li, Ying and Altarescu, Gheona and Renbaum, Paul and Eldar-Geva, Talia and Levy-Lahad, Ephrat and Margalioth, Ehud J. and Zhong, Xiaoyan and Hahn, Sinuhe and Holzgreve, Wolfgang. (2009) Non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma from PGD pregnancies. Reproductive biomedicine online : RBM online : an international journal devoted to rapid publication of peer-reviewed biomedical research on human conception and the human embryo, Vol. 19. pp. 714-720.

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Official URL: http://edoc.unibas.ch/dok/A6003257

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Abstract

Preimplantation genetic diagnosis (PGD) is usually used to establish a non-affected pregnancy for those couples facing a genetic risk of having an affected child. However, an invasive test is still recommended to all PGD patients due to the risk of misdiagnosis. The discovery of cell-free fetal DNA in maternal plasma provides the possibility for noninvasive prenatal diagnosis. Studies have shown that fetal single-gene disorders can be detected in cell-free fetal DNA by the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) assay with single-allele base extension reaction (SABER) approach or by the size-fractionation approach, whereby cell-free fetal DNA is enriched on the basis of its smaller size compared with maternal DNA fragments. Recent studies have indicated that a combination of the two approaches increases the accuracy of detection. This study combined the two methods and examined fetal paternally inherited gene mutations in maternal plasma obtained from four PGD-conducted pregnancies. The presence or absence of mutations was correctly detected in all cases. This combined method could be used for risk-free prenatal diagnosis of diseases caused by single-gene mutations, and in particular for couples who undergo PGD who opt not to perform invasive prenatal confirmation due to the risk of abortion.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Former Units at DBM > Gynecological Oncology (Zhong)
UniBasel Contributors:Zhong, Xiao Yan
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Elsevier
ISSN:1472-6491
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:01 Mar 2013 11:14
Deposited On:01 Mar 2013 11:11

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