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

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 o...

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Bibliographic Details
Published in:Molecular human reproduction 2006-09, Vol.12 (9), p.587-591
Main Authors: Stanghellini, I., Bertorelli, R., Capone, L., Mazza, V., Neri, C., Percesepe, A., Forabosco, A.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosomes, Human, Y - genetics
DAZ repetitive probe
Deleted in Azoospermia 1 Protein
DNA - blood
DNA Probes
Embryology: invertebrates and vertebrates. Teratology
Female
fetal DNA quantitation
Fundamental and applied biological sciences. Psychology
Humans
Male
Maternal-Fetal Exchange
Polymerase Chain Reaction
Predictive Value of Tests
Pregnancy - blood
Pregnancy Outcome
Pregnancy Trimester, First
Prospective Studies
RNA-Binding Proteins - genetics
Sex Determination Processes
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Summary: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.
ISSN:1360-9947
1460-2407
DOI:10.1093/molehr/gal052