title: The effect of DYS-14 copy number variations on extracellular fetal DNA quantification in maternal circulation.
abstract: The aims of our research involved to investigate DYS-14 copy number variations in healthy males, to quantify extracellular DNA in maternal circulation in normal versus complicated pregnancies, and to study variations in the DYS-14 copy number in extracellular male fetal DNA. Fifty-five healthy males, 43 uncomplicated male singleton pregnancies (23 sampled at the 16th week and 20 sampled at the 36th week), and 15 pregnancies with placental insufficiency (PI)-related complications (mean 34.1 weeks) were analyzed using real-time PCR with DYS-14 sequence, sex determining region Y (SRY), and beta-globin (GLO) genes used as markers. Increased levels of extracellular DNA were detected in PI-related complications relative to gestational age-matched controls (SRY, p < 0.001; DYS-14, p = 0.007; GLO, p < 0.001). When the mean + 2SD (standard deviation) of controls was used as a cutoff, SRY, DYS-14, and GLO achieved 91.7%, 68.8%, and 94.4% accuracy, respectively, for differentiation between normal and complicated pregnancies. Considerable variations in the DYS-14 copy number in healthy males (mean 52.6) and extracellular DNA were found. A lower DYS-14 copy number was observed in PI-related complications (mean 83.5) compared to uncomplicated pregnancies (16th week: mean 114.2, p = 0.02; 36th week: mean 142.8, p = 0.04). The DYS-14 copy number was higher in extracellular DNA throughout gestation relative to healthy males. We concluded that, regarding interindividual copy number variations, the DYS-14 sequence is not an optimal marker for extracellular fetal DNA quantification for differentiation between normal and complicated pregnancies.
authors.affiliation: Department of Molecular Biology and Cell Pathology, 3rd Medical Faculty, Charles University, Prague, Czech Republic. ilona.hromadnikova@lf3.cuni.cz
authors.forename: Ilona
authors.initials: I
authors.lastname: Hromadnikova
authors.forename: Martina
authors.initials: M
authors.lastname: Benesova
authors.forename: Lenka
authors.initials: L
authors.lastname: Zejskova
authors.forename: Jana
authors.initials: J
authors.lastname: Stehnova
authors.forename: Jindrich
authors.initials: J
authors.lastname: Doucha
authors.forename: Petr
authors.initials: P
authors.lastname: Sedlacek
authors.forename: Klara
authors.initials: K
authors.lastname: Dlouha
authors.forename: Ladislav
authors.initials: L
authors.lastname: Krofta
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D041322:Chromosomes, Human, Y / Q000235:genetics*; D004247:DNA / Q000097:blood*; D005260:Female; D005333:Fetus; D018628:Gene Dosage; D005865:Gestational Age; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009035:Mothers; D010927:Placental Insufficiency / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D055815:Young Adult
chemical_list: D018797:Cell Cycle Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; C497749:TSPY1 protein, human; D004247:DNA