title: Assessment of QF-PCR as the first approach in prenatal diagnosis.
abstract: Quantitative fluorescent PCR (QF-PCR) has been used by many laboratories for prenatal diagnosis of the most common aneuploidies. QF-PCR is rapid, cost-effective, and suitable for automation and can detect most abnormalities diagnosed by conventional karyotyping. Whether QF-PCR should be used alone in most of the samples and in which karyotyping should also be offered is currently a topic of debate. We evaluated and compared the results obtained from 7679 prenatal samples in which conventional karyotype and QF-PCR had been performed, including 1243 chorionic villi and 6436 amniotic fluid samples. Concordant QF-PCR and karyotype results were obtained in 98.75% of the samples. An abnormal karyotype associated with adverse clinical outcome undetected by QF-PCR was found in 0.05% of samples. Therefore, QF-PCR can be used alone in a large number of samples studied in a prenatal laboratory, thereby reducing both the workload in cytogenetic laboratories and parental anxiety when awaiting results.
authors.affiliation: Biochemistry and Molecular Genetics Service, Villarroel 170, Hospital Clínic de Barcelona, 08036 Barcelona, Spain. cbadenas@clinic.ub.es
authors.forename: Celia
authors.initials: C
authors.lastname: Badenas
authors.forename: Laia
authors.initials: L
authors.lastname: Rodríguez-Revenga
authors.forename: Carme
authors.initials: C
authors.lastname: Morales
authors.forename: Carmen
authors.initials: C
authors.lastname: Mediano
authors.forename: Alberto
authors.initials: A
authors.lastname: Plaja
authors.forename: Ma Mar
authors.initials: MM
authors.lastname: Pérez-Iribarne
authors.forename: Anna
authors.initials: A
authors.lastname: Soler
authors.forename: Núria
authors.initials: N
authors.lastname: Clusellas
authors.forename: Antoni
authors.initials: A
authors.lastname: Borrell
authors.forename: Ma Ángeles
authors.initials: MÁ
authors.lastname: Sánchez
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Miró
authors.forename: Aurora
authors.initials: A
authors.lastname: Sánchez
authors.forename: Montserrat
authors.initials: M
authors.lastname: Milà
authors.forename: Wladimiro
authors.initials: W
authors.lastname: Jiménez
mesh_terms: D000653:Amniotic Fluid / Q000737:chemistry; D002824:Chorionic Villi / Q000737:chemistry; D002869:Chromosome Aberrations; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping / Q000379:methods; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D005819:Genetic Markers