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Mol. Hum. Reprod. Advance Access originally published online on July 4, 2006
Molecular Human Reproduction 2006 12(9):587-591; doi:10.1093/molehr/gal052
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe

I. Stanghellini1, R. Bertorelli2, L. Capone2, V. Mazza3, C. Neri1, A. Percesepe1,4 and A. Forabosco1

1Department of Medical Genetics, University of Modena, Modena, 2Genomic Research Centre, Cante di Montevecchio Association O.N.L.U.S., Fano (PU) and 3Department of Obstetrics and Gynecology, University of Modena, Modena, Italy

4 To whom correspondence should be addressed at: Department of Medical Genetics, University of Modena, Via del Pozzo 71, Modena 41100, Italy. E-mail: percesepe.antonio{at}unimo.it

Cell-free fetal DNA in maternal plasma or serum is at present widely investigated as a source of fetal genetic material, both in studies of pregnancy-related disorders and in planning strategies for non-invasive prenatal diagnosis. Despite the number of trials already performed on the quantitation of fetal DNA, data about the amount of DNA at the beginning of pregnancy, in particular in the first trimester, remain limited. A new probe mapping on the deleted in azoospermia (DAZ) repetitive region of the Yq chromosome was designed for an early assessment of fetal DNA concentration in maternal serum. Among 57 pregnant women prospectively studied in their first trimester, fetal DNA was detected already by the 5th gestational week, with the analysis becoming reliable by the 8th week of gestation when a 100% accuracy in fetal sex determination was achieved. Moreover, in the three cases of pregnancy ending in fetal loss, the amount of fetal DNA apparently decreased before the abortion was diagnosed, whereas it consistently showed an increasing trend in normal pregnancies. Real-time PCR with the use of DAZ multilocus probe can efficiently quantitate free fetal DNA in the maternal serum at the beginning of pregnancy.

Key words: DAZ repetitive probe/fetal DNA quantitation


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