title: [Prenatal diagnosis of fetal chromosomal aneuploidies using quantitative fluorescent PCR (QF-PCR)].
abstract: The trisomy of the 21 chromosomes is one of the most important chromosomal anomalies and is responsible for Down syndrome. It persists in Poland in 1/700 birth. The risk of childbirth with Down syndrome grows with age, especially in women after 35 years old. In this study we performed QF-PCR method with specific polymorphic sequence--D21S11 for detection of trisomy of the 21 chromosome. DNA for PCR was isolated from amniotic fluid, blood of healthy and with Down syndrome patients. PCR was performed with ProfilerPlus Kit, which permits for amplification of 9 STR loci (also D21S11) and gender marker--amelogenin gene. We detected incorrect amplification of STR sequence for D21S11 in one amniotic fluid, which was confirmed by kariotyping as trisomy of the 21 chromosome of fetus.
authors.affiliation: Zakład Endokrynologii Ginekologicznej, Akademia Medyczna w Gdańsku. miroslaw.nakonieczny@invicta.pl
authors.forename: Mirosław
authors.initials: M
authors.lastname: Nakonieczny
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Jezierski
authors.forename: Izabela
authors.initials: I
authors.lastname: Woźniak
authors.forename: Joanna
authors.initials: J
authors.lastname: Liss
authors.forename: Ryszard
authors.initials: R
authors.lastname: Pawłowski
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Preis
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Swiatkowska-Freund
authors.forename: Czesław
authors.initials: C
authors.lastname: Wójcikowski
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Łukaszuk
mesh_terms: D000782:Aneuploidy; D016022:Case-Control Studies; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D005453:Fluorescence; D005819:Genetic Markers; D006801:Humans; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis / Q000379:methods*; D012680:Sensitivity and Specificity
chemical_list: D005819:Genetic Markers